View source for Retinitis pigmentosa

{{short description|Gradual retinal degeneration leading to progressive sight loss}}
{{cs1 config|name-list-style=vanc}}
{{Infobox medical condition (new)
| name          = Retinitis pigmentosa
| synonyms      = Inherited retinal dystrophy/diseases
| image         = Fundus of patient with retinitis pigmentosa, mid stage.jpg
| caption       = [[Fundus (eye)|Back of the eye]] of a person with mid-stage retinitis pigmentosa. Note pigment deposits in the mid periphery along with [[retinal atrophy]]. While the [[macula]] is preserved there is some loss of pigmentation around it.
| pronounce     =
| field         = [[Ophthalmology]], [[Optometry]]
| symptoms      = [[nyctalopia|Trouble seeing at night]], decreased [[peripheral vision]]<ref name=NIH2014/>
| complications =
| onset         = Childhood<ref name=NIH2014/>
| duration      =
| types         =
| causes        = [[Genetics|Genetic]]<ref name=NIH2014/>
| risks         =
| diagnosis     = [[Eye examination]]<ref name=NIH2014/>
| differential  =
| prevention    =
| treatment     = [[Low vision aids]], portable lighting, [[orientation and mobility]] training<ref name=NIH2014/>
| medication    = 
| prognosis     =
| frequency     = 1 in 4,000 people<ref name=NIH2014/>
| deaths        =
}}
<!-- Definition and symptoms -->

'''Retinitis pigmentosa''' ('''RP''') is a member of a group of [[genetic disorder]]s called inherited retinal dystrophy (IRD) that cause [[vision impairment|loss of vision]].<ref name=NIH2014/> Symptoms include [[nyctalopia|trouble seeing at night]] and decreasing [[peripheral vision]] (side and upper or lower visual field).<ref name=NIH2014/> As peripheral vision worsens, people may experience "[[tunnel vision]]".<ref name=NIH2014/> Complete [[blindness]] is uncommon.<ref name="Kel2008">{{cite book |last1=Openshaw |first1=Amanda |url=http://kellogg.umich.edu/patientcare/downloads/Understand-Retinitis-Pigmentosa.pdf |title=Understanding Retinitis Pigmentosa |date=Feb 2008 |publisher=University of Michigan Kellogg Eye Center |access-date=2017-12-02 |archive-url=https://web.archive.org/web/20170829205230/http://kellogg.umich.edu/patientcare/downloads/Understand-Retinitis-Pigmentosa.pdf |archive-date=2017-08-29}}</ref> Onset of symptoms is generally gradual and often begins in childhood.<ref name=NIH2014/><ref name=Kel2008/>

<!-- Cause and mechanism -->
Retinitis pigmentosa is generally inherited from one or both parents.<ref name="OMIM">{{cite web |title=OMIM Entry: Retinitis Pigmentosa |url=https://www.omim.org/entry/268000#inheritance |access-date=18 July 2023 |website=Online Mendelian Inheritance in Man}}</ref> It is caused by genetic variants in nearly 100 [[genes]].<ref name=OMIM/> The underlying mechanism involves the progressive loss of rod [[photoreceptor cell]]s that line the [[retina]] of the eyeball.<ref name=NIH2014/> The [[rod cell]]s secrete a [[Neuroprotection|neuroprotective]] substance (rod-derived cone viability factor, RdCVF) that protects the cone cells from [[apoptosis]]. When these rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells.<ref name=NIH2014/> Diagnosis is through [[Eye examination#Retinal examination|eye examination of the retina]] finding dark pigment deposits caused by the rupture of the underlying [[Retinal pigment epithelium|retinal pigmented epithelial cells]], given that these cells contain [[melanin]].<ref name=NIH2014/> Other supportive testing may include the [[Electroretinography|electroretinogram]] (ERG), [[visual field test]]ing (VFT), ocular coherence tomography (OCT) and [[Genetic testing|DNA testing]] to determine the gene responsible for a person's particular type of RP.<ref name=NIH2014/>

<!-- Treatment and epidemiology -->
There is currently no cure for retinitis pigmentosa.<ref name=Kel2008/> Efforts to manage the problem may include the use of [[low vision aids]], portable lighting, or [[orientation and mobility]] training.<ref name=NIH2014/> [[Vitamin A palmitate]] supplements may be useful to slow progression.<ref name=NIH2014/> A [[visual prosthesis]] may be an option for people with severe symptoms.<ref name=NIH2014/>

There is only one FDA-approved [[gene therapy]] that is commercially available to RP patients with [[Leber congenital amaurosis]] type 2. It replaces the miscoded [[RPE65]] protein that is produced within the retinal pigmented epithelium. It has been found to be effective in approximately 50% of the patients who receive the therapy. The earlier a child receives the RPE65 therapy, the better their chances are for a positive outcome. There are many other therapies being researched at this time, with the goal of being approved in the next few years.

It is estimated to affect 1 in 4,000 people.<ref name="NIH2014">{{cite web |date=May 2014 |title=Facts About Retinitis Pigmentosa |url=https://nei.nih.gov/health/pigmentosa/pigmentosa_facts |archive-url=https://web.archive.org/web/20190307155841/https://nei.nih.gov/health/pigmentosa/pigmentosa_facts |archive-date=7 March 2019 |access-date=18 April 2020 |website=National Eye Institute}}</ref>

== Signs and symptoms ==
[[Image:Tunnel vision sc.png|thumb|upright=1.3|Example of tunnel vision (bottom)]]
The initial retinal degenerative symptoms of retinitis pigmentosa are characterized by decreased [[night vision]] ([[nyctalopia]]) and the loss of the mid-peripheral visual field.<ref name="pmid19545852">{{cite journal |last1=Shintani |first1=Kelly |last2=Shechtman |first2=Diana L. |last3=Gurwood |first3=Andrew S. |year=2009 |title=Review and update: Current treatment trends for patients with retinitis pigmentosa |journal=Optometry |volume=80 |issue=7 |pages=384–401 |doi=10.1016/j.optm.2008.01.026 |pmid=19545852}}</ref> The rod photoreceptor cells, which are responsible for low-light vision and are orientated mainly in the retinal periphery, are the retinal processes affected first during non-syndromic (without other conditions) forms of this disease.<ref name="pmid9768836">{{cite journal |last1=Soucy |first1=E |last2=Wang |first2=Y |last3=Nirenberg |first3=S |last4=Nathans |first4=J |last5=Meister |first5=M |year=1998 |title=A Novel Signaling Pathway from Rod Photoreceptors to Ganglion Cells in Mammalian Retina |journal=Neuron |volume=21 |issue=3 |pages=481–93 |doi=10.1016/S0896-6273(00)80560-7 |pmid=9768836 |s2cid=6636037 |doi-access=free}}</ref> Visual decline progresses relatively quickly to the far peripheral field, eventually extending into the central visual field as tunnel vision increases. [[Visual acuity]] and [[color vision]] can become compromised due to accompanying loss of the cone photoreceptor cells, which are responsible for color vision, visual acuity, and sight in the central visual field.<ref name=pmid9768836 /> The progression of disease occurs in both eyes in a similar but not identical pattern. A variety of indirect symptoms characterize retinitis pigmentosa along with the direct effects of the initial rod photoreceptor degeneration and later cone photoreceptor decline. Phenomena such as [[photophobia]] in which light is perceived as an intense [[Glare (vision)|glare]], and [[photopsia]], the presence of blinking, swirling or shimmering lights spontaneously occurring within the visual field, often manifest during the later stages of RP.{{cn|date=October 2025}}

Findings related to RP have often been characterized in the [[fundus (eye)|fundus]] (back layer) of the eye as the "ophthalmic triad". This includes the development of (1) a [[mottled]] appearance of the retina and [[retinal pigment epithelium]] (RPE) that gives the same visual appearance of bone spicule patterns (but are not bone spicules), (2) a waxy yellow appearance of the [[optic disk]], and (3) the [[attenuation]] of blood vessels in size and arterial/venous ratio as they enter and exit the [[Optic disc|optic disk]] of the retina and transverse it.<ref name=pmid19545852 />

Non-syndromic RP (RP appears alone without other co-morbidities) usually presents a variety of the following symptoms:{{Citation needed | date = April 2019}}
* [[nyctalopia|Night blindness]]
* [[Tunnel vision]] (due to loss of peripheral vision)
* [[Latticework vision]]{{Clarify|reason=What is latticework vision?|date=September 2021}} (due to patchy loss of peripheral vision)
* loss of [[depth perception]]<ref>{{cite journal |last1=Prem Senthil |first1=M |last2=Khadka |first2=J |last3=Pesudovs |first3=K |date=May 2017 |title=Seeing through their eyes: lived experiences of people with retinitis pigmentosa |journal=Eye |volume=31 |issue=5 |pages=741–748 |doi=10.1038/eye.2016.315 |pmc=5437327 |pmid=28085147}}</ref>
* [[Photopsia]] (Spontaneously occurring flashes/blinking/swirling/shimmering lights)
* [[Photophobia]] (aversion to bright lights)
* Development of the appearance of melanin pigment in a bone spicule pattern in the fundus (not bone tissue)
* Slow adjustment from dark to light environments and vice versa
* [[Blurred vision|Blurring of vision]]
* Poor color separation
* Central vision towards the end of progression, because this is a disease of the rods, and the cones are mostly responsible for central vision ([[macula]] and [[Fovea centralis|fovea]])
* Eventual partial or total [[Visual impairment|blindness]]. The majority of patients do not become [[Visual impairment#United States|totally blind]], often retaining limited or non-functional vision.

== Causes ==
RP may be:
(1) non-syndromic, that is, it occurs alone, without any other clinical findings,
(2) syndromic, with other neurosensory disorders, [[Developmental abnormality|developmental abnormalities]], or complex clinical findings, or
(3) secondary to other systemic diseases.<ref>{{cite journal |last1=Daiger |first1=S P |last2=Sullivan |first2=L S |last3=Bowne |first3=S J |year=2013 |title=Genes and mutations causing retinitis pigmentosa |journal=Clinical Genetics |volume=84 |issue=2 |pages=132–41 |doi=10.1111/cge.12203 |pmc=3856531 |pmid=23701314}}</ref>
* RP combined with [[deafness]] ([[Birth defect|congenital]] or progressive) is called [[Usher syndrome]].<ref>{{cite web |title=Usher Syndrome |url=https://retinauk.org.uk/about-inherited-sight-loss/types-of-inherited-sight-loss/usher-syndrome/}}</ref>
* [[Alport syndrome|Alport's syndrome]] is associated with RP and an abnormal [[Glomerular basement membrane|glomerular-basement membrane]] leading to [[nephrotic syndrome]]. It is inherited as [[X-linked dominant inheritance|X-linked dominant]].
* RP combined with [[ophthalmoplegia]], [[dysphagia]], [[ataxia]], and [[Cardiac conduction system|cardiac conduction]] defects is seen in the [[mitochondrial DNA]] disorder [[Kearns–Sayre syndrome]] (also known as Ragged Red Fiber [[Myopathy]]).
* RP combined with intellectual disability, [[peripheral neuropathy]], acanthotic (spiked) RBCs, ataxia, [[steatorrhea]], and absence of VLDL is seen in [[abetalipoproteinemia]].<ref>{{cite web |date=2015-12-18 |title=Diseases – MM – Types Of Overview |url=https://www.mda.org/disease/mitochondrial-myopathies/types-of |work=Muscular Dystrophy Association}}</ref>
* RP is seen clinically in association with several other rare [[genetic disorder]]s (including [[muscular dystrophy]] and [[chronic granulomatous disease]]) as part of [[McLeod syndrome]]. This is an [[X-linked recessive inheritance|X-linked recessive]] [[phenotype]] characterized by a complete absence of [[XK (protein)|XK cell surface proteins]], and therefore markedly reduced expression of all [[Kell antigen system|Kell red blood cell antigens]]. For [[Blood transfusion|transfusion]] purposes, these patients are considered completely incompatible with all normal and K0/K0 [[Blood donation|donors]].
* RP associated with [[hypogonadism]], and [[Developmental disability|developmental delay]] with an [[autosomal recessive inheritance]] pattern is seen with [[Bardet–Biedl syndrome]].<ref>{{cite web |title=Bardet-Biedl (Laurence Moon) |url=https://retinauk.org.uk/about-inherited-sight-loss/types-of-inherited-sight-loss/bardet-biedl/}}</ref>

Other conditions include [[neurosyphilis]], [[toxoplasmosis]] and [[Refsum's disease]].

Acquired conditions resulting in [[Ophthalmoscopy|ophthalmoscopic]] findings resembling RP include eye inflammation associated with infection in early age ([[rubella]], [[syphilis]], [[toxoplasmosis]], [[Herpesviridae|herpesvirus]]), autoimmune paraneoplastic [[retinopathy]], [[Adverse drug reaction|drug toxicity]] ([[phenothiazine]]s and [[chloroquine]], less commonly with [[thioridazine]] and [[hydroxychloroquine]]), [[diffuse unilateral subacute neuroretinitis]] and [[Eye injury|eye trauma]]. Acquired conditions may be unilateral or bilateral, and static or progressive.<ref>Adamus, G., Ren, G. & Weleber, R.G. Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy. BMC Ophthalmol 4, 5 (2004). https://doi.org/10.1186/1471-2415-4-5</ref><ref>Bastek JV, Foos RY, Heckenlively J. Traumatic pigmentary retinopathy. Am J Ophthalmol. 1981 Nov;92(5):621-4. doi: 10.1016/s0002-9394(14)74652-5. PMID 7304688.</ref>

=== Genetics ===
Retinitis pigmentosa (RP) is one of the most common forms of inherited retinal [[Degenerative disease|degeneration]].<ref name="Hartong">{{cite journal |last1=Hartong |first1=Dyonne T |last2=Berson |first2=Eliot L |last3=Dryja |first3=Thaddeus P |year=2006 |title=Retinitis pigmentosa |journal=The Lancet |volume=368 |issue=9549 |pages=1795–1809 |doi=10.1016/S0140-6736(06)69740-7 |pmid=17113430 |s2cid=24950783}}</ref>

There are multiple [[genes]] that code for proteins needed in the [[Visual system|visual pathway]] that, when [[Mutation|mutated]], can cause the retinitis pigmentosa [[phenotype]].<ref>{{OMIM|268000|RETINITIS PIGMENTOSA; RP}}</ref> Inheritance patterns of RP have been identified as autosomal dominant, autosomal recessive, X-linked, and maternally ([[Mitochondrial inheritance|mitochondrially]]) acquired, and are dependent on the specific RP gene mutations present in the parental generation. Autosomal Dominant RP Type 11 (PRPF-31) can be inherited as a genotype only because of [[incomplete penetrance]], and is thus coded for in the DNA but does not manifest the disease as a phenotype.<ref name="pmid12015282">{{cite journal |last1=Rivolta |first1=C. |last2=Sharon |first2=D |last3=Deangelis |first3=M. M. |last4=Dryja |first4=T. P. |year=2002 |title=Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns |journal=Human Molecular Genetics |volume=11 |issue=10 |pages=1219–27 |doi=10.1093/hmg/11.10.1219 |pmid=12015282 |doi-access=free}}</ref> In 1989, a [[mutation]] of the gene for [[rhodopsin]], a [[pigment]] that plays an essential part in the [[Visual phototransduction|visual transduction cascade]] enabling vision in low-light conditions, was identified. The rhodopsin gene [[Coding strand|encodes]] a principal protein of photoreceptor outer segments. Mutations in this gene most commonly presents as [[missense mutation]]s or misfolding of the rhodopsin protein, and most frequently follow autosomal dominant inheritance patterns. Since the discovery of the rhodopsin gene, more than 100 RHO mutations have been identified, accounting for 15% of all types of [[Retinopathy|retinal degeneration]], and approximately 25% of [[dominance (genetics)#Autosomal dominant gene|autosomal dominant]] forms of RP.<ref name="Hartong" /><ref name="Berson EL, Rosner B, Sandberg MA, Dryja TP 1991 92–101">{{cite journal |last1=Berson |first1=Eliot L. |last2=Rosner |first2=B |last3=Sandberg |first3=M. A. |last4=Dryja |first4=T. P. |year=1991 |title=Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa and a Rhodopsin Gene Defect (Pro-23-His) |journal=Archives of Ophthalmology |volume=109 |issue=1 |pages=92–101 |doi=10.1001/archopht.1991.01080010094039 |pmid=1987956}}</ref>

Over 100 mutations have been reported to date in the [[opsin]] gene associated with RP since the Pro23His mutation in the intradiscal domain of the protein was first reported in 1990. These mutations are found throughout the opsin gene and are distributed along the three domains of the protein (the intradiscal, [[transmembrane]], and [[cytoplasmic]] [[Protein domain|domains]]). One of the main [[Biochemistry|biochemical]] causes of RP in the case of rhodopsin mutations is [[protein folding|protein misfolding]], and the disruption of [[molecular chaperones]].<ref>{{cite journal |last1=Senin |first1=Ivan I. |last2=Bosch |first2=Laia |last3=Ramon |first3=Eva |last4=Zernii |first4=Evgeni Yu. |last5=Manyosa |first5=Joan |last6=Philippov |first6=Pavel P. |last7=Garriga |first7=Pere |year=2006 |title=Ca2+/recoverin dependent regulation of phosphorylation of the rhodopsin mutant R135L associated with retinitis pigmentosa |journal=Biochemical and Biophysical Research Communications |volume=349 |issue=1 |pages=345–52 |doi=10.1016/j.bbrc.2006.08.048 |pmid=16934219}}</ref> The mutation of [[Genetic code|codon]] 23 in the rhodopsin gene, in which [[proline]] is changed to [[histidine]], accounts for the largest fraction of rhodopsin mutations in the [[United States]]. Several other studies have reported various codon mutations associated with retinitis pigmentosa, including Thr58Arg, Pro347Leu, Pro347Ser, as well as deletion of Ile-255.<ref name="Berson EL, Rosner B, Sandberg MA, Dryja TP 1991 92–101" /><ref>{{cite journal |last1=Dryja |first1=Thaddeus P. |last2=McGee |first2=Terri L. |last3=Reichel |first3=Elias |last4=Hahn |first4=Lauri B. |last5=Cowley |first5=Glenn S. |last6=Yandell |first6=David W. |last7=Sandberg |first7=Michael A. |last8=Berson |first8=Eliot L. |year=1990 |title=A point mutation of the rhodopsin gene in one form of retinitis pigmentosa |journal=Nature |volume=343 |issue=6256 |pages=364–6 |bibcode=1990Natur.343..364D |doi=10.1038/343364a0 |pmid=2137202 |s2cid=4351328}}</ref><ref>{{cite journal |last1=Dryja |first1=Thaddeus P. |last2=McGee |first2=Terri L. |last3=Hahn |first3=Lauri B. |last4=Cowley |first4=Glenn S. |last5=Olsson |first5=Jane E. |last6=Reichel |first6=Elias |last7=Sandberg |first7=Michael A. |last8=Berson |first8=Eliot L. |year=1990 |title=Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa |journal=New England Journal of Medicine |volume=323 |issue=19 |pages=1302–7 |doi=10.1056/NEJM199011083231903 |pmid=2215617 |doi-access=free}}</ref><ref>{{cite journal |last1=Berson |first1=E. L. |last2=Rosner |first2=B |last3=Sandberg |first3=M. A. |last4=Weigel-Difranco |first4=C |last5=Dryja |first5=T. P. |year=1991 |title=Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine |journal=American Journal of Ophthalmology |volume=111 |issue=5 |pages=614–23 |doi=10.1016/s0002-9394(14)73708-0 |pmid=2021172}}</ref><ref>{{cite journal |last1=Inglehearn |first1=C. F. |last2=Bashir |first2=R |last3=Lester |first3=D. H. |last4=Jay |first4=M |last5=Bird |first5=A. C. |author-link5=Alan C. Bird |last6=Bhattacharya |first6=S. S. |year=1991 |title=A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa |journal=American Journal of Human Genetics |volume=48 |issue=1 |pages=26–30 |pmc=1682750 |pmid=1985460}}</ref> In 2000, a rare mutation in codon 23 was reported causing autosomal dominant retinitis pigmentosa, in which proline changed to [[alanine]]. However, this study showed that the retinal [[Retinopathy|dystrophy]] associated with this mutation was characteristically mild in presentation and course. Furthermore, there was greater preservation in [[electroretinography]] [[amplitude]]s than the more prevalent Pro23His mutation.<ref name="pmid10980774">{{cite journal |last1=Oh |first1=Kean T. |last2=Weleber |first2=R. G. |last3=Lotery |first3=A |last4=Oh |first4=D. M. |last5=Billingslea |first5=A. M. |last6=Stone |first6=E. M. |year=2000 |title=Description of a New Mutation in Rhodopsin, Pro23Ala, and Comparison with Electroretinographic and Clinical Characteristics of the Pro23His Mutation |journal=Archives of Ophthalmology |volume=118 |issue=9 |pages=1269–76 |doi=10.1001/archopht.118.9.1269 |pmid=10980774 |doi-access=free}}</ref>

Autosomal recessive inheritance patterns of RP have been identified in at least 45 genes.<ref name=pmid12015282 /> This means that two unaffected individuals who are carriers of the same RP-inducing gene mutation in [[Diallel cross|diallelic]] form can produce offspring with the RP phenotype. A mutation on the USH2A gene is known to cause 10-15% of a syndromic form of RP known as Usher's Syndrome when inherited in an autosomal recessive fashion.<ref name="ghr.nlm.nih.gov">{{cite web |title=Retinitis pigmentosa |url=https://medlineplus.gov/genetics/condition/retinitis-pigmentosa/}}</ref>

Mutations in four [[pre-mRNA]] [[splicing factor]]s are known to cause [[autosomal dominant]] retinitis pigmentosa. These are [[PRPF3]] (human PRPF3 is HPRPF3; also PRP3), [[PRPF8]], [[PRPF31]] and [[RP9|PAP1]]. These factors are ubiquitously expressed and it is proposed that defects in a ubiquitous factor (a protein expressed everywhere) should only cause disease in the [[retina]] because the retinal photoreceptor cells have a far greater requirement for protein processing ([[rhodopsin]]) than any other cell type.<ref>{{cite journal |last1=Bujakowska |first1=K. |last2=Maubaret |first2=C. |last3=Chakarova |first3=C. F. |last4=Tanimoto |first4=N. |last5=Beck |first5=S. C. |last6=Fahl |first6=E. |last7=Humphries |first7=M. M. |last8=Kenna |first8=P. F. |last9=Makarov |first9=E. |last10=Makarova |first10=O. |last11=Paquet-Durand |first11=F. |last12=Ekstrom |first12=P. A. |last13=Van Veen |first13=T. |last14=Leveillard |first14=T. |last15=Humphries |first15=P. |year=2009 |title=Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP) |journal=Investigative Ophthalmology & Visual Science |volume=50 |issue=12 |pages=5927–5933 |doi=10.1167/iovs.08-3275 |pmid=19578015 |last16=Seeliger |first16=M. W. |last17=Bhattacharya |first17=S. S.}}</ref>

The somatic, or [[X-linked recessive inheritance|X-linked inheritance]] patterns of RP are currently identified with the mutations of six genes, the most common occurring at specific loci in the RPGR and RP2 genes.<ref name="ghr.nlm.nih.gov" />

Types include:
{| class="sortable wikitable"
|-
! [[OMIM]]
! Gene
! Type
|-
 | {{OMIM|400004||none}}
 | [[RPY]]
 | Retinitis pigmentosa Y-linked
|-
 | {{OMIM|180100||none}}
 | [[RP1]]
 | Retinitis pigmentosa-1
|-
 | {{OMIM|312600||none}}
 | [[RP2 (gene)|RP2]]
 | Retinitis pigmentosa-2
|-
 | {{OMIM|300029||none}}
 | [[RPGR]]
 | Retinitis pigmentosa-3
|-
 | {{OMIM|608133||none}}
 | [[PRPH2]]
 | Retinitis pigmentosa-7
|-
 | {{OMIM|180104||none}}
 | [[RP9]]
 | Retinitis pigmentosa-9
|-
 | {{OMIM|180105||none}}
 | [[IMPDH1]]
 | Retinitis pigmentosa-10
|-
 | {{OMIM|600138||none}}
 | [[PRPF31]] Inheritance can be either phenotypic or genotypic.
 | Retinitis pigmentosa-11 Autosomal Dominant
|-
 | {{OMIM|600105||none}}
 | [[CRB1]]
 | Retinitis pigmentosa-12, autosomal recessive
|-
 | {{OMIM|600059||none}}
 | [[PRPF8]]
 | Retinitis pigmentosa-13
|-
 | {{OMIM|600132||none}}
 | [[TULP1]]
 | Retinitis pigmentosa-14
|-
 | {{OMIM|600852||none}}
 | [[Carbonic anhydrase 4|CA4]]
 | Retinitis pigmentosa-17
|-
 | {{OMIM|601414||none}}
 | [[PRPF3|HPRPF3]]
 | Retinitis pigmentosa-18
|-
 | {{OMIM|601718||none}}
 | [[ABCA4]]
 | Retinitis pigmentosa-19
|-
 | {{OMIM|602772||none}}
 | [[EYS (gene)|EYS]]
 | Retinitis pigmentosa-25
|-
 | {{OMIM|608380||none}}
 | [[CERKL]]
 | Retinitis pigmentosa-26
|-
|[https://www.omim.org/entry/606068 606068]
|FAM161A
|Retinitis pigmentosa-28
|-
 | {{OMIM|607921||none}}
 | [[FSCN2]]
 | Retinitis pigmentosa-30
|-
 | {{OMIM|609923||none}}
 | [[TOPORS]]
 | Retinitis pigmentosa-31
|-
 | {{OMIM|610359||none}}
 | [[SNRNP200]]
 | Retinitis pigmentosa 33
|-
 | {{OMIM|610282||none}}
 | [[SEMA4A]]
 | Retinitis pigmentosa-35
|-
 | {{OMIM|610599||none}}
 | [[PRCD]]
 | Retinitis pigmentosa-36
|-
 | {{OMIM|611131||none}}
 | [[NR2E3]]
 | Retinitis pigmentosa-37
|-
 | {{OMIM|268000||none}}
 | [[MERTK]]
 | Retinitis pigmentosa-38
|-
 | {{OMIM|268000||none}}
 | [[USH2A]]
 | Retinitis pigmentosa-39
|-
 | {{OMIM|612095||none}}
 | [[PROM1]]
 | Retinitis pigmentosa-41
|-
 | {{OMIM|612943||none}}
 | [[KLHL7]]
 | Retinitis pigmentosa-42
|-
 | {{OMIM|268000||none}}
 | [[CNGB1]]
 | Retinitis pigmentosa-45
|-
 | {{OMIM|613194||none}}
 | [[BEST1]]
 | Retinitis pigmentosa-50
|-
 | {{OMIM|613464||none}}
 | [[TTC8]]
 | Retinitis pigmentosa 51
|-
 | {{OMIM|613428||none}}
 | [[C2orf71]]
 | Retinitis pigmentosa 54
|-
 | {{OMIM|613575||none}}
 | [[ARL6]]
 | Retinitis pigmentosa 55
|-
 | {{OMIM|613617||none}}
 | [[ZNF513]]
 | Retinitis pigmentosa 58
|-
 | {{OMIM|613861||none}}
 | [[DHDDS]]
 | Retinitis pigmentosa 59
|-
 | {{OMIM|613194||none}}
 | [[BEST1]]
 | Retinitis pigmentosa, concentric
|-
 | {{OMIM|608133||none}}
 | [[PRPH2]]
 | Retinitis pigmentosa, digenic
|-
 | {{OMIM|613341||none}}
 | [[Lecithin retinol acyltransferase|LRAT]]
 | Retinitis pigmentosa, juvenile
|-
 | {{OMIM|268000||none}}
 | [[SPATA7]]
 | Retinitis pigmentosa, juvenile, autosomal recessive
|-
 | {{OMIM|268000||none}}
 | [[CRX (gene)|CRX]]
 | Retinitis pigmentosa, late-onset dominant
|-
 | {{OMIM|300455||none}}
 | [[RPGR]]
 | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
|}

== Pathophysiology ==
[[File:ScanEMphoto.jpg|thumb|Scanning electron micrograph depicting the retinal [[rod cell|rod]] and [[cone cell|cone]] photoreceptors. The elongated rods are colored yellow and orange, while the shorter cones are colored red.]]
A variety of retinal molecular pathway defects have been matched to multiple known RP gene [[mutation]]s. Mutations in the [[rhodopsin]] gene (''RHO''), which is responsible for the majority of autosomal-dominantly inherited RP cases, disrupts the rhodopsin protein essential for translating light into decipherable electrical signals within the [[Visual phototransduction|phototransduction cascade]] of the [[central nervous system]]. Defects in the activity of this [[G-protein-coupled receptor]] are classified into distinct classes that depend on the specific folding abnormality and the resulting molecular pathway defects. The Class I mutant protein's activity is compromised as specific point mutations in the protein-coding [[amino acid]] sequence affect the pigment protein's transport to the outer segment of the eye, where the [[Visual phototransduction|phototransduction cascade]] is localized. Additionally, the misfolding of Class II rhodopsin gene mutations disrupts the protein's conjunction with 11-cis-retinal to induce proper [[chromophore]] formation. Additional mutants in this pigment-encoding gene affect protein stability, disrupt mRNA integrity post-translationally, and affect the activation rates of [[transducin]] and [[opsin]] optical proteins.<ref>{{cite journal |vauthors=Mendes HF, van der Spuy J, Chapple JP, Cheetham ME |date=April 2005 |title=Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy |journal=Trends in Molecular Medicine |volume=11 |issue=4 |pages=177–185 |doi=10.1016/j.molmed.2005.02.007 |pmid=15823756}}</ref>

Additionally, animal models suggest that the [[retinal pigment epithelium]] fails to [[phagocytose]] the outer rod segment discs that have been shed, leading to an accumulation of outer rod segment debris. In mice that are [[Dominance (genetics)|homozygous recessive]] for retinal degeneration mutation, rod photoreceptors stop developing and undergo degeneration before cellular maturation completes. A defect in cGMP-phosphodiesterase has also been documented; this leads to toxic levels of cGMP.{{cn|date=October 2025}}

[[Oxidative stress|Oxidative damage]] associated with [[lipid peroxidation]] is a potential cause of cone cell death in retinitis pigmentosa.<ref>{{cite journal |last1=Shen |first1=Jikui |last2=Yang |first2=Xiaoru |last3=Dong |first3=Aling |last4=Petters |first4=Robert M. |last5=Peng |first5=You-Wei |last6=Wong |first6=Fulton |last7=Campochiaro |first7=Peter A. |date=2005 |title=Oxidative damage is a potential cause of cone cell death in retinitis pigmentosa |journal=Journal of Cellular Physiology |volume=203 |issue=3 |pages=457–464 |doi=10.1002/jcp.20346 |pmid=15744744 |s2cid=23961882}}</ref>

== Diagnosis ==

An accurate [[medical diagnosis|diagnosis]] of retinitis pigmentosa relies on the documentation of the progressive loss of [[photoreceptor cell]] function, confirmed by a combination of [[visual field test|visual field]] and [[visual acuity]] tests, fundus and optical coherence imagery, and [[electroretinography]] (ERG).<ref name="kellogg.umich.edu">{{cite web |title=Understanding Retinitis Pigmentosa |url=http://www.kellogg.umich.edu/patientcare/downloads/Understand-Retinitis-Pigmentosa.pdf |archive-url=https://web.archive.org/web/20170329143940/http://kellogg.umich.edu/patientcare/downloads/Understand-Retinitis-Pigmentosa.pdf |archive-date=2017-03-29 |access-date=2015-03-16}}</ref>

Visual field and acuity tests measure and compare the size of the patient's field of vision and the clarity of their visual perception with the standard visual measurements associated with healthy 20/20 vision. Clinical diagnostic features indicative of retinitis pigmentosa include a substantially small and progressively decreasing visual area in the visual field test, and compromised levels of clarity measured during the visual acuity test.<ref>{{cite book |author=Abigail T Fahim |title=Retinitis Pigmentosa Overview |publisher=University of Washington, Seattle |year=1993 |chapter=Nonsyndromic Retinitis Pigmentosa Overview |pmid=20301590 |chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK1417/}}</ref> Additionally, optical tomography such as fundus and retinal (optical coherence) imagery provide further diagnostic tools when determining an RP diagnosis. Photographing the back of the dilated eye allows the confirmation of bone spicule accumulation in the fundus, which presents during the later stages of RP retinal degeneration. Combined with cross-sectional imagery of optical coherence tomography, which provides clues into photoreceptor thickness, retinal layer morphology, and retinal pigment epithelium physiology, fundus imagery can help determine the state of RP progression.<ref>{{Cite journal |vauthors=Chang S, Vaccarella L, Olatunji S, Cebulla C, Christoforidis J |year=2011 |title=Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability |journal=Current Genomics |volume=12 |issue=4 |pages=267–75 |doi=10.2174/138920211795860116 |pmc=3131734 |pmid=22131872}}</ref>

While visual field and acuity test results combined with retinal imagery support the diagnosis of retinitis pigmentosa, additional testing is necessary to confirm other pathological features of this disease. [[Electroretinography]] (ERG) confirms the RP diagnosis by evaluating functional aspects associated with photoreceptor degeneration, and can detect physiological abnormalities before the initial manifestation of symptoms. An electrode lens is applied to the eye as photoreceptor response to varying degrees of quick light pulses is measured. Patients exhibiting the retinitis pigmentosa phenotype would show decreased or delayed electrical response in the rod photoreceptors, as well as possibly compromised cone photoreceptor cell response.{{cn|date=October 2025}}

The patient's family history is also considered when determining a diagnosis due to the genetic mode of inheritance of retinitis pigmentosa. At least 35 different [[gene]]s or [[Locus (genetics)|loci]] are known to cause nonsyndromic RP. Indications of the RP mutation type can be determined through [[DNA testing]], which is available on a clinical basis for:
* {{Gene|RLBP1}} (autosomal recessive, Bothnia type RP)
* {{Gene|RP1}} (autosomal dominant, RP1)
* {{Gene|RHO}} (autosomal dominant, RP4)
* {{Gene|RDS}} (autosomal dominant, RP7)
* {{Gene|PRPF8}} (autosomal dominant, RP13)
* {{Gene|PRPF3}} (autosomal dominant, RP18)
* [[CRB1]] (autosomal recessive, RP12)
* {{Gene|ABCA4}} (autosomal recessive, RP19)
* {{Gene|RPE65}} (autosomal recessive, RP20)<ref>{{cite web |date=26 April 2022 |title=Retinitis Pigmentosa |url=http://www.columbiaeye.org/content/retinitis-pigmentosa}}</ref>

For all other genes (e.g. [[dehydrodolichyl diphosphate synthase|DHDDS]]), molecular [[genetic testing]] is available on a research basis only.{{cn|date=October 2025}}

RP can be inherited in an [[autosomal dominant]], [[autosomal recessive]], [[Sex linkage|X-linked]] or [[Y linkage|Y-linked]]<ref>{{cite journal |vauthors=Zhao GY, Hu DN, Xia HX, Xia ZC |year=1995 |title=Chinese family with retinitis pigmentosa |journal=Ophthalmic Genetics |volume=16 |issue=2 |pages=75–76 |doi=10.3109/13816819509056916 |pmid=7493160}}</ref> manner. X-linked RP can be either [[recessive]], affecting primarily only males, or [[dominant allele|dominant]], affecting both males and females, although males are usually more mildly affected. Some digenic (controlled by two genes) and [[mitochondrial]] forms have also been described.{{cn|date=October 2025}}

[[Genetic counseling]] depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing.{{cn|date=October 2025}}

== Treatment ==

There is currently no cure for retinitis pigmentosa, but the efficacy and safety of various prospective treatments are currently being evaluated. The efficiency of various supplements, such as vitamin A, [[Docosahexaenoic acid|DHA]], NAC, and [[lutein]], in delaying disease progression remains an unresolved, yet prospective treatment option.<ref>{{cite journal |last1=Hartong |first1=Dyonne T |last2=Berson |first2=Eliot L |last3=Dryja |first3=Thaddeus P |date=November 2006 |title=Retinitis pigmentosa |journal=The Lancet |volume=368 |issue=9549 |pages=1795–1809 |doi=10.1016/S0140-6736(06)69740-7 |pmid=17113430 |s2cid=24950783}}</ref><ref>{{cite journal |last1=Schwartz |first1=Stephen G |last2=Wang |first2=Xue |last3=Chavis |first3=Pamela |last4=Kuriyan |first4=Ajay E |last5=Abariga |first5=Samuel A |date=18 June 2020 |title=Vitamin A and fish oils for preventing the progression of retinitis pigmentosa |journal=Cochrane Database of Systematic Reviews |volume=2020 |issue=6 |doi=10.1002/14651858.CD008428.pub3 |pmc=7388842 |pmid=32573764 |article-number=CD008428}}</ref> Clinical trials investigating optic prosthetic devices, gene therapy mechanisms, and retinal sheet transplantations are active areas of study in the partial restoration of vision in retinitis pigmentosa patients.<ref name="pmid25209781">{{cite journal |last1=Lok |first1=Corie |date=September 2014 |title=Curing blindness: Vision quest |journal=Nature |volume=513 |issue=7517 |pages=160–162 |bibcode=2014Natur.513..160L |doi=10.1038/513160a |pmid=25209781 |doi-access=free}}</ref>

=== Stalling of disease ===
Studies have demonstrated the delay of rod photoreceptor degeneration by the daily intake of 15000 [[International unit|IU]] (equivalent to 4.5&nbsp;mg) of [[vitamin A palmitate]]; thus, stalling disease progression in some patients.<ref name="pmid8512476">{{cite journal |last1=Berson |first1=Eliot L. |last2=Rosner |first2=B |last3=Sandberg |first3=M. A. |last4=Hayes |first4=K. C. |last5=Nicholson |first5=B. W. |last6=Weigel-Difranco |first6=C |last7=Willett |first7=W |year=1993 |title=A Randomized Trial of Vitamin a and Vitamin E Supplementation for Retinitis Pigmentosa |journal=Archives of Ophthalmology |volume=111 |issue=6 |pages=761–72 |doi=10.1001/archopht.1993.01090060049022 |pmid=8512476}}</ref> Recent investigations have shown that proper [[vitamin A]] supplementation can postpone blindness by up to 10 years (by reducing the 10% loss pa to 8.3% pa) in some patients in certain stages of the disease.<ref name="pmid17531222">{{cite journal |last1=Berson |first1=Eliot L. |year=2007 |title=Long-term visual prognoses in patients with retinitis pigmentosa: The Ludwig von Sallmann lecture |journal=Experimental Eye Research |volume=85 |issue=1 |pages=7–14 |doi=10.1016/j.exer.2007.03.001 |pmc=2892386 |pmid=17531222}}</ref>

=== Bone marrow derived stem cells (BMSC) ===
MD Stem Cells, a clinical research company using autologous bone marrow derived stem cells (BMSC) in the treatment of retinal and optic nerve disease, published results from the Retinitis Pigmentosa cohort within their ongoing NIH registered Stem Cell Ophthalmology Study II (SCOTS2) clinical trial (NCT 03011541).<ref>{{Cite web |date=22 February 2021 |title=Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II |url=https://www.clinicaltrials.gov/ct2/show/NCT03011541?term=NCT+03011541&draw=2&rank=1}}</ref> Outcomes were encouraging with 45.5% of eyes showing an average of 7.9 lines of improvement (40.9% LogMAR improvement over baseline) and 45.5% of eyes showing stable acuity over the follow-up. Results were statistically significant(p=0.016).<ref>Weiss JN, Levy S. Stem Cell Ophthalmology Treatment Study: bone marrow derived stem cells in the treatment of Retinitis Pigmentosa. Stem Cell Investig. 2018 Jun 6;5:18. doi: 10.21037/sci.2018.04.02. eCollection 2018.</ref> Retinitis Pigmentosa continues to be treated and evaluated in the study.{{cn|date=October 2025}}

=== Argus retinal prosthesis ===
The [[Argus retinal prosthesis]] became the first approved treatment for the disease in February 2011, and is currently available in Germany, France, Italy, and the UK.<ref>{{cite web |title=Nahrungsergänzungsmittel: ALLES, was du wissen musst! |url=http://2-sight.eu/ee/how-does-argus-ii-produce-sight |archive-url=https://archive.today/20130819184440/http://2-sight.eu/ee/how-does-argus-ii-produce-sight |archive-date=2013-08-19 |access-date=2013-08-19}}</ref> Interim results on 30 patients long term trials were published in 2012.<ref name="pmid22244176">{{cite journal |last1=Humayun |first1=Mark S. |last2=Dorn |first2=Jessy D. |last3=Da Cruz |first3=Lyndon |last4=Dagnelie |first4=Gislin |last5=Sahel |first5=José-Alain |last6=Stanga |first6=Paulo E. |last7=Cideciyan |first7=Artur V. |last8=Duncan |first8=Jacque L. |last9=Eliott |first9=Dean |last10=Filley |first10=Eugene |last11=Ho |first11=Allen C. |last12=Santos |first12=Arturo |last13=Safran |first13=Avinoam B. |last14=Arditi |first14=Aries |last15=Del Priore |first15=Lucian V. |year=2012 |title=Interim Results from the International Trial of Second Sight's Visual Prosthesis |journal=Ophthalmology |volume=119 |issue=4 |pages=779–88 |doi=10.1016/j.ophtha.2011.09.028 |pmc=3319859 |pmid=22244176 |last16=Greenberg |first16=Robert J.}}</ref> The Argus II retinal implant has also received market approval in the US.<ref>{{cite web |title=FDA approves first retinal implant for adults with rare genetic eye disease |url=http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm339824.htm |archive-url=https://web.archive.org/web/20130216064721/http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm339824.htm |archive-date=2013-02-16 |website=[[Food and Drug Administration]]}}</ref> The device may help adults with RP who have lost the ability to perceive shapes and movement to be more mobile and to perform day-to-day activities. In June 2013, twelve hospitals in the US announced they would soon accept consultation for patients with RP in preparation for the launch of Argus II later that year.<ref name="Science Daily">{{cite news |date=29 June 2013 |title='First Bionic Eye' Retinal Chip for Blind |url=https://www.sciencedaily.com/releases/2013/06/130629164628.htm |access-date=30 June 2013 |newspaper=Science Daily}}</ref>{{ums|date=November 2017}} The Alpha-IMS is a [[retinal implant|subretinal implant]] involving the surgical implantation of a small image-recording chip beneath the optic [[fovea centralis|fovea]]. Measures of visual improvements from Alpha-IMS studies require the demonstration of the device's safety before proceeding with clinical trials and granting market approval.<ref>{{Cite journal |vauthors=Stingl K, Bartz-Schmidt KU, Besch D, Braun A, Bruckmann A, Gekeler F, Greppmaier U, Hipp S, Hörtdörfer G, Kernstock C, Koitschev A, Kusnyerik A, Sachs H, Schatz A, Stingl KT, Peters T, Wilhelm B, Zrenner E |year=2013 |title=Artificial vision with wirelessly powered subretinal electronic implant alpha-IMS |journal=Proc. Biol. Sci. |volume=280 |issue=1757 |doi=10.1098/rspb.2013.0077 |pmc=3619489 |pmid=23427175 |article-number=20130077}}</ref>

=== Gene therapy ===
The goal of [[gene therapy]] studies is to virally supplement retinal cells expressing mutant genes associated with the retinitis pigmentosa phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene. Clinical trials investigating the insertion of the healthy RPE65 gene in retinas expressing the [[Leber's congenital amaurosis|LCA2]] retinitis pigmentosa phenotype measured modest improvements in vision; however, the degradation of retinal photoreceptors continued at the disease-related rate.<ref>{{cite journal |last1=Bainbridge |first1=James W.B. |last2=Smith |first2=Alexander J. |last3=Barker |first3=Susie S. |last4=Robbie |first4=Scott |last5=Henderson |first5=Robert |last6=Balaggan |first6=Kamaljit |last7=Viswanathan |first7=Ananth |last8=Holder |first8=Graham E. |last9=Stockman |first9=Andrew |last10=Tyler |first10=Nick |last11=Petersen-Jones |first11=Simon |last12=Bhattacharya |first12=Shomi S. |last13=Thrasher |first13=Adrian J. |last14=Fitzke |first14=Fred W. |last15=Carter |first15=Barrie J. |year=2008 |title=Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis |journal=New England Journal of Medicine |volume=358 |issue=21 |pages=2231–9 |citeseerx=10.1.1.574.4003 |doi=10.1056/NEJMoa0802268 |pmid=18441371 |last16=Rubin |first16=Gary S. |last17=Moore |first17=Anthony T. |last18=Ali |first18=Robin R.}}</ref> Likely, gene therapy may preserve remaining healthy retinal cells while failing to repair the earlier accumulation of damage in already diseased photoreceptor cells.<ref name=pmid25209781/> Response to [[gene therapy]] would theoretically benefit young patients exhibiting the shortest progression of photoreceptor decline; thus, correlating to a higher possibility of cell rescue via the healthy inserted gene.<ref>{{cite journal |display-authors=etal |vauthors=Maguire AM, High KA, Auricchio A |date=November 2009 |title=Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial |journal=The Lancet |volume=374 |issue=9701 |pages=1597–1605 |doi=10.1016/S0140-6736(09)61836-5 |pmc=4492302 |pmid=19854499}}</ref>

=== Drugs ===
{{expand section|section=11|find=Retinitis pigmentosa Disulfiram|date=April 2022}}
One study at UC Berkeley found that [[disulfiram]], a drug used to treat alcoholism in humans, had potential to partially restore vision loss in rats with retinitis pigmentosa, even during late stages of the disease.<ref>{{cite web |title=A key to restoring sight may be held in a drug that treats alcoholism |url=https://www.urmc.rochester.edu/news/publications/neuroscience/a-key-to-restoring-sight-may-be-held-in-a-drug-that-treats-alcoholism |access-date=2022-04-13 |website=URMC Newsroom |language=en-us}}</ref><ref>{{Cite journal |last1=Telias |first1=Michael |last2=Sit |first2=Kevin K. |last3=Frozenfar |first3=Daniel |last4=Smith |first4=Benjamin |last5=Misra |first5=Arjit |last6=Goard |first6=Michael J. |last7=Kramer |first7=Richard H. |year=2022 |title=Retinoic acid inhibitors mitigate vision loss in a mouse model of retinal degeneration |journal=Science Advances |volume=8 |issue=11 |bibcode=2022SciA....8M4643T |doi=10.1126/sciadv.abm4643 |issn=2375-2548 |pmc=8932665 |pmid=35302843 |article-number=eabm4643}}</ref><ref>{{cite web |date=2022-03-19 |title=A drug once used to treat alcoholism may cure retinal degeneration |url=https://interestingengineering.com/antabuse-drug-alcoholism-retinal-degeneration |access-date=2022-04-13 |website=interestingengineering.com |language=en-US}}</ref> Efforts to continue research in humans is ongoing.

== Prognosis ==
The progressive nature of and lack of a definitive cure for retinitis pigmentosa contribute to the inevitably discouraging outlook for patients with this disease. While complete blindness is rare, the person's visual acuity and visual field will continue to decline as initial rod photoreceptor and later cone photoreceptor degradation proceeds.<ref>{{Cite journal |last1=Shintani |first1=Kelly |last2=Shechtman |first2=Diana L. |last3=Gurwood |first3=Andrew S. |date=July 2009 |title=Review and update: Current treatment trends for patients with retinitis pigmentosa |journal=Optometry - Journal of the American Optometric Association |volume=80 |issue=7 |pages=384–401 |doi=10.1016/j.optm.2008.01.026 |pmid=19545852}}</ref>

Studies indicate that children carrying the disease genotype benefit from [[Genetic counseling|presymptomatic counseling]] in order to prepare for the physical and social implications associated with progressive vision loss. While the psychological prognosis can be slightly alleviated with active counseling<ref>{{cite journal |last1=Mezer |first1=E |last2=Babul-Hirji |first2=R |last3=Wise |first3=R |last4=Chipman |first4=M |last5=Dasilva |first5=L |last6=Rowell |first6=M |last7=Thackray |first7=R |last8=Shuman |first8=C. T. |last9=Levin |first9=A. V. |year=2007 |title=Attitudes regarding predictive testing for retinitis pigmentosa |journal=Ophthalmic Genet. |volume=28 |issue=1 |pages=9–15 |doi=10.1080/13816810701199423 |pmid=17454742 |s2cid=21636488}}</ref> the physical implications and progression of the disease depend largely on the age of initial symptom manifestation and the rate of photoreceptor degradation, rather than access to prospective treatments. Corrective visual aids and personalized vision therapy provided by Low Vision Specialists may help patients correct slight disturbances in visual acuity and optimize their remaining visual field. Support groups, vision insurance, and lifestyle therapy are additional useful tools for those managing progressive visual decline.<ref name="kellogg.umich.edu" />

== Epidemiology ==
Retinitis pigmentosa is the leading cause of inherited blindness,<ref>{{Cite journal |author=Parmeggiani F |year=2011 |title=Clinics, Epidemiology and Genetics of Retinitis Pigmentosa |journal=Current Genomics |volume=12 |issue=4 |pages=236–7 |doi=10.2174/138920211795860080 |pmc=3131730 |pmid=22131868}}</ref> with approximately 1/4,000 individuals experiencing the non-syndromic form of their disease within their lifetime.<ref>{{cite journal |last1=Hamel |first1=Christian |year=2006 |title=Retinitis pigmentosa |journal=Orphanet Journal of Rare Diseases |volume=1 |doi=10.1186/1750-1172-1-40 |pmc=1621055 |pmid=17032466 |doi-access=free |article-number=40}}</ref> It is estimated that 1.5 million people worldwide are currently affected. Early onset RP occurs within the first few years of life and is typically associated with syndromic disease forms, while late onset RP emerges from early to mid-adulthood.{{cn|date=October 2025}}

Autosomal dominant and recessive forms of retinitis pigmentosa affect both male and female populations equally; however, the less frequent X-linked form of the disease affects male recipients of the X-linked mutation, while females usually remain unaffected carriers of the RP trait. The X-linked forms of the disease are considered severe, and typically lead to complete blindness during later stages. In rare occasions, a dominant form of the [[X-linked dominant inheritance|X-linked gene mutation]] will affect both males and females equally.<ref>{{cite journal |last1=Prokisch |first1=Holger |last2=Hartig |first2=Monika |last3=Hellinger |first3=Rosa |last4=Meitinger |first4=Thomas |last5=Rosenberg |first5=Thomas |year=2007 |title=IOVS – A Population-Based Epidemiological and Genetic Study of X-Linked Retinitis Pigmentosa |journal=Investigative Ophthalmology & Visual Science |volume=48 |issue=9 |pages=4012–8 |doi=10.1167/iovs.07-0071 |pmid=17724181}}</ref>

Due to the genetic inheritance patterns of RP, many isolate populations exhibit higher disease frequencies or increased prevalence of a specific RP mutation. Pre-existing or emerging mutations that contribute to rod photoreceptor degeneration in retinitis pigmentosa are passed down through familial lines; thus, allowing certain RP cases to be concentrated to specific geographical regions with an ancestral history of the disease. Several hereditary studies have been performed to determine the varying prevalence rates in Maine (USA), Birmingham (England), Switzerland (affects 1/7000), Denmark (affects 1/2500), and Norway.<ref>{{Cite journal |last1=Haim |first1=Marianne |year=2002 |title=The epidemiology of retinitis pigmentosa in Denmark |url=http://onlinelibrary.wiley.com/store/10.1046/j.1395-3907.2002.00001.x/asset/j.1395-3907.2002.00001.x.pdf;jsessionid=DFAE926129B842C779D7F3FF4161710F.f02t01?v=1&t=i9kqhu90&s=5d78760662660ed7e8d11c378c2c396095ea2017 |journal=Acta Ophthalmologica Scandinavica |volume=80 |issue=233 |pages=1–34 |doi=10.1046/j.1395-3907.2002.00001.x |pmid=11921605 |url-access=subscription |doi-access=free}}</ref> Navajo Indians display an elevated rate of RP inheritance as well, which is estimated as affecting 1 in 1878 individuals. Despite the increased frequency of RP within specific familial lines, the disease is considered non-discriminatory and tends to equally affect all world populations.{{cn|date=October 2025}}

== Research ==
Future treatments may involve retinal [[organ transplant|transplants]],<ref>{{cite journal |last1=Graham-Rowe |first1=Duncan |date=8 September 2008 |title=Retinal transplants see fleeting success |journal=Nature |doi=10.1038/news.2008.1088 |article-number=news.2008.1088}}</ref> artificial [[retinal implant]]s,<ref>{{cite press release |title=Ophthalmologists Implant Five Patients with Artificial Silicon Retina Microchip To Treat Vision Loss from Retinitis Pigmentosa |date=2005-01-31 |publisher=[[Rush University Medical Center]] |url=http://www.rush.edu/webapps/MEDREL/servlet/NewsRelease?ID=608 |access-date=2007-06-16 |archive-url=https://web.archive.org/web/20050208061300/http://www.rush.edu/webapps/MEDREL/servlet/NewsRelease?ID=608 |archive-date=2005-02-08}}</ref> [[gene therapy]], [[stem cell]]s, [[Dietary supplement|nutritional supplements]], and/or [[Pharmacology|drug therapies]].

2012: Scientists at the University of Miami [[Bascom Palmer Eye Institute]] presented data showing protection of photoreceptors in an animal model when eyes were injected with mesencephalic astrocyte-derived neurotrophic factor ([[MANF (gene)|MANF]]).<ref>{{cite journal |last1=Wen |first1=Rong |last2=Luo |first2=Lingyu |last3=Huang |first3=Dequang |last4=Xia |first4=Xin |last5=Wang |first5=Zhengying |last6=Chen |first6=Pingping |last7=Li |first7=Yiwen |date=March 2012 |title=Mesencephalic Astrocyte-derived Neurotrophic Factor (MANF) Protects Rod and Cone Photoreceptors from Degeneration in Transgenic Rats Carrying the S334ter Rhodopsin Mutation |url=http://iovs.arvojournals.org/article.aspx?articleid=2353744 |journal=[[Investigative Ophthalmology & Visual Science|Invest. Ophthalmol. Vis. Sci.]] |volume=53 |issue=14 |page=2581 |access-date=2016-08-07}}</ref><ref>{{cite conference |last1=Wen |first1=Rong |last2=Luo |first2=Lingyu |last3=Huang |first3=Dequang |last4=Xia |first4=Xin |last5=Wang |first5=Zhengying |last6=Chen |first6=Pingping |last7=Li |first7=Yiwen |date=May 7, 2012 |title=Mesencephalic Astrocyte-derived Neurotrophic Factor (MANF) Protects Rod and Cone Photoreceptors from Degeneration in Transgenic Rats Carrying the S334ter Rhodopsin Mutation |url=http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=76ea053d-6fdd-4338-ac0b-66e2ff1885a1&cKey=a6522c99-616b-4978-8252-b8dff363a98e&mKey=f0fce029-9bf8-4e7c-b48e-9ff7711d4a0e |conference=ARVO 2012}}</ref> Researchers at the University of California, Berkeley were able to restore vision to blind mice by exploiting a "photoswitch" that activates retinal ganglion cells in animals with damaged rod and cone cells.<ref>{{cite journal |last1=Tochitsky |first1=Ivan |last2=Polosukhina |first2=Aleksandra |last3=Degtyar |first3=Vadim E. |last4=Gallerani |first4=Nicholas |last5=Smith |first5=Caleb M. |last6=Friedman |first6=Aaron |last7=Van Gelder |first7=Russell N. |last8=Trauner |first8=Dirk |author-link8=Dirk Trauner |last9=Kaufer |first9=Daniela |last10=Kramer |first10=Richard H. |year=2014 |title=Restoring Visual Function to Blind Mice with a Photoswitch that Exploits Electrophysiological Remodeling of Retinal Ganglion Cells |journal=Neuron |volume=81 |issue=4 |pages=800–13 |doi=10.1016/j.neuron.2014.01.003 |pmc=3933823 |pmid=24559673}}</ref>

2015: A study by Bakondi et al. at [[Cedars-Sinai Medical Center]] showed that [[CRISPR]]/Cas9 can be used to treat rats with the autosomal dominant form of retinitis pigmentosa.<ref>{{cite journal |last1=Bakondi |first1=Benjamin |last2=Lv |first2=Wenjian |last3=Lu |first3=Bin |last4=Jones |first4=Melissa K |last5=Tsai |first5=Yuchun |last6=Kim |first6=Kevin J |last7=Levy |first7=Rachelle |last8=Akhtar |first8=Aslam Abbasi |last9=Breunig |first9=Joshua J |last10=Svendsen |first10=Clive N |last11=Wang |first11=Shaomei |date=March 2016 |title=In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa |journal=Molecular Therapy |volume=24 |issue=3 |pages=556–563 |doi=10.1038/mt.2015.220 |pmc=4786918 |pmid=26666451}}</ref> Researchers find that two molecules, rod-derived cone viability factor (RdCVF) and [[NRF2|Nrf2]], can protect cone photoreceptors in mouse models of retinitis pigmentosa.<ref>{{cite journal |last1=Byrne |first1=Leah C. |last2=Dalkara |first2=Deniz |last3=Luna |first3=Gabriel |last4=Fisher |first4=Steven K. |last5=Clérin |first5=Emmanuelle |last6=Sahel |first6=Jose-Alain |last7=Léveillard |first7=Thierry |last8=Flannery |first8=John G. |date=2 January 2015 |title=Viral-mediated RdCVF and RdCVFL expression protects cone and rod photoreceptors in retinal degeneration |journal=Journal of Clinical Investigation |volume=125 |issue=1 |pages=105–116 |doi=10.1172/JCI65654 |pmc=4382269 |pmid=25415434}}</ref><ref>{{cite journal |last1=Xiong |first1=Wenjun |last2=MacColl Garfinkel |first2=Alexandra E. |last3=Li |first3=Yiqing |last4=Benowitz |first4=Larry I. |last5=Cepko |first5=Constance L. |date=1 April 2015 |title=NRF2 promotes neuronal survival in neurodegeneration and acute nerve damage |journal=Journal of Clinical Investigation |volume=125 |issue=4 |pages=1433–1445 |doi=10.1172/JCI79735 |pmc=4396467 |pmid=25798616}}</ref>

2016: RetroSense Therapeutics aimed to inject viruses with DNA from light-sensitive algae into the eyes of several blind people (who have retinitis pigmentosa). If successful, they will be able to see in black and white.<ref>{{cite web |date=19 December 2017 |title=FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss |url=https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm589467.htm |archive-url=https://web.archive.org/web/20171219164647/https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm589467.htm |archive-date=December 19, 2017 |access-date=18 June 2020 |website=U.S. Food and Drug Administration}}</ref><ref>{{cite web |last=Bourzac |first=Katherine |title=A blind woman in Texas is first person to undergo optogenetic therapy, which could let her see again if successful |url=https://www.technologyreview.com/s/601067/texas-woman-is-the-first-person-to-undergo-optogenetic-therapy/ |website=technologyreview.com}}</ref>

In 2017 the FDA approved the gene therapy [[voretigene neparvovec]] to treat people with biallelic RPE65 mutation-associated retinal dystrophy.<ref>{{cite web |last=Commissioner |first=Office of the |date=2018-11-03 |title=Press Announcements - FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss |url=https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm589467.htm |archive-url=https://web.archive.org/web/20171219164647/https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm589467.htm |archive-date=December 19, 2017 |access-date=2019-01-16 |website=www.fda.gov}}</ref>

In 2020, a literature review estimated the experimental therapeutic technique called [[transcorneal electrical stimulation]] as "probably effective" (level B) in retinitis pigmentosa, based on the evidence available at that time.<ref name="pmid31884495">{{cite journal |vauthors=Perin C, Viganò B, Piscitelli D, Matteo BM, Meroni R, Cerri CG |date=2020 |title=Non-invasive current stimulation in vision recovery: a review of the literature |journal=Restorative Neurology and Neuroscience |volume=38 |issue=3 |pages=239–250 |doi=10.3233/RNN-190948 |pmc=7504999 |pmid=31884495}}</ref>

In 2021 an [[optogenetics]] application of the protein [[Channelrhodopsin]] in a human patient was reported with partial recovery of non-functional vision in a series of one patient only. They did not use standard protocol to measure visual improvement, but created their own criteria.<ref>{{cite journal |vauthors=Sahel JA, Boulanger Scemama E, Pagot C et al |year=2021 |title=Partial recovery of visual function in a blind patient after optogenetic therapy |journal=Nature Medicine |volume=27 |issue=7 |pages=1223–1229 |doi=10.1038/s41591-021-01351-4 |pmid=34031601 |doi-access=free}}</ref> The serendipitous discovery of the novel algal [[channelrhodopsin]] used came out of the [[1000 Plant Genomes Project]].<ref>{{cite news |author=James Gallagher |date=24 May 2021 |title=Algae proteins partially restore man's sight |url=https://www.bbc.com/news/health-57226572 |work=BBC News}}</ref>

== Notable cases ==
* [[Jennifer L. Armentrout]], American author of YA paranormal and Science Fiction{{cn|date=October 2025}}
* [[Walt Bodine]]. American broadcaster, Kansas City{{cn|date=October 2025}}
* [[Willie Brown (politician)|Willie Brown]], 41st Mayor of San Francisco, California{{cn|date=October 2025}}
* [[Alex Bulmer]], Canadian playwright<ref>{{cite web |last=Maga |first=Carly |date=12 December 2017 |title=Blind actor Alex Bulmer leads the way into theatre's future |url=https://www.thestar.com/entertainment/stage/2017/12/12/blind-actor-alex-bulmer-leads-the-way-into-theatres-future.html |access-date=9 August 2020 |website=Toronto Star |language=en}}</ref>
* [[Molly Burke]], Canadian YouTuber and motivational speaker<ref>{{Cite web |title=About |url=https://www.mollyburkeofficial.com/about |access-date=2025-11-22 |website=Molly Burke Official |language=en-US}}</ref>
* [[Mark Erelli]], American singer/songwriter, guitarist for [[Lori McKenna]]<ref>{{Cite web |last=Daley |first=Lauren |date=September 29, 2022 |title=Losing his vision has opened Mark Erelli's eyes |url=https://www.bostonglobe.com/2022/09/29/arts/losing-his-vision-has-opened-mark-erellis-eyes/ |access-date=2023-09-11 |website=The Boston Globe |language=en-US}}</ref>
* [[Neil Fachie]], British paralympic cyclist<ref>[https://web.archive.org/web/20120627100338/http://www.paralympics.org.uk/gb/athletes/neil-fachie Neil Fachie]</ref>
* [[William (Bill) Fulton]], urban planner, author, and former Mayor of Ventura, California{{cn|date=October 2025}}
* [[Gordon Gund]], American businessman and professional sports team owner{{cn|date=October 2025}}
* [[Rigo Tovar]], Mexican musician, singer and actor{{cn|date=October 2025}}
* [[Lindy Hou]], Australian tandem cyclist and triathlete<ref>{{cite news |last=McDonald |first=Margie |date=31 May 2008 |title=Wheel turns a full circle as proud Lindy rides for two countries in Beijing |url=http://www.theaustralian.com.au/news/proud-lindy-rides-for-two-countries/story-e6frg7mo-1111116493868 |access-date=1 February 2012 |publisher=[[The Australian]] |page=54}}</ref>
* [[Amar Latif]], entrepreneur, television personality and professional traveller{{cn|date=October 2025}}
* [[Rachael Leahcar]], Australian singer/songwriter, actress and motivational speaker{{cn|date=October 2025}}
* [[Steve Lonegan]], Mayor of Bogota, New Jersey; Republican candidate for U.S. Senate<ref>{{cite web |last=Rizzo |first=Salvador |date=2013-09-25 |title=Lonegan opens up about is blindness |url=http://www.nj.com/politics/index.ssf/2013/09/lonegan_opens_up_about_his_blindness.html#incart_m-rpt-1}}</ref>
* [[Chris McCausland]], British stand-up comedian and actor<ref>{{Cite news |last=Duerden |first=Nick |date=16 June 2023 |title=Chris McCausland: 'A miracle to cure my blindness completely? I'd consider that' |url=https://inews.co.uk/culture/comedy/chris-mccausland-miracle-cure-blindness-2417677?srsltid=AfmBOorsUIvIJwOi5rfyv8585oiyUAlvmJ5HCe0jtbJLHktzEY1a8eK5 |work=[[i (British newspaper)|The i paper]]}}</ref>
* [[Robin Millar (producer)|Robin Millar]], English record producer, musician and businessman<ref>{{cite news |last1=Thomson |first1=Alice |date=15 July 2023 |title='I was 16. My doctor said, "You'll go blind. Get on with it"' |url=https://www.thetimes.com/culture/music/article/robin-millar-record-producer-interview-blindness-david-bowie-sade-3bd0kb0l6 |access-date=15 July 2023 |work=[[The Times]]}}</ref>
* [[Woody Shaw]], American jazz trumpeter<ref>{{cite book |last=Spencer |first=Frederick J. |url=https://archive.org/details/jazzdeathmedical00spen |title=Jazz and Death: Medical Profiles of Jazz Greats |date=2002 |publisher=University of Mississippi Press |isbn=978-1-57806-453-3 |pages=[https://archive.org/details/jazzdeathmedical00spen/page/55 55]–57 |url-access=registration}}</ref>
* [[Regina Sorenson]], Australian television personality<ref>{{cite news |last=Guertin |first=Lachlan |date=26 April 2022 |title=Big Brother's Reggie Bird tears up detailing her battle with blindness |url=https://au.news.yahoo.com/big-brother-reggie-bird-battle-with-blindness-000516074.html |access-date=13 July 2022 |publisher=[[Yahoo! News]]}}</ref>
* [[Shel Talmy]], American record producer, songwriter and arranger<ref>{{cite web |last=Wayne |first=Artie |title=SHEL TALMY INTERVIEWED BY ARTIE WAYNE, PART TWO |url=http://www.spectropop.com/ShelTalmy2/index.htm |access-date=31 March 2020 |website=spectropop.com |publisher=Artie Wayne}}</ref>
* [[Sabriye Tenberken]], German Tibetologist and developer of [[Tibetan Braille]]
* [[Danelle Umstead]], American Paralympic alpine skier, ''[[Dancing with the Stars (U.S. TV series)|Dancing with the Stars]]'' contestant<ref>{{Cite news |title=Danelle Umstead |url=https://www.teamusa.org/para-alpine-skiing/athletes/danelle-umstead |archive-url=https://web.archive.org/web/20150501110921/http://www.teamusa.org/para-alpine-skiing/athletes/Danelle-Umstead |archive-date=May 1, 2015 |access-date=2018-09-13 |work=Team USA}}</ref>
* [[Jon Wellner]], American actor<ref>{{cite web |title=CSI Cast: Jon Wellner |url=http://www.cbs.com/primetime/csi/cast/jon-wellner/ |access-date=October 5, 2010 |publisher=[[CBS]]}}</ref>
* [[Steve Wynn]], American business magnate and Las Vegas casino developer<ref>{{cite magazine |last=Paumgarten |first=Nick |date=2006-10-16 |title=Doh! Dept: The $40-Million Elbow |url=http://www.newyorker.com/archive/2006/10/23/061023ta_talk_paumgarten |access-date=2012-08-13 |magazine=The New Yorker}}</ref>
* [[Sheena Iyengar]],  S.T. Lee Professor of Business in the Management Department at Columbia Business School<ref>{{cite web |title=Take 5: Sheena Iyengar, author and expert on choice |date=26 March 2018 |url=http://www.nj.com/inside-jersey/index.ssf/2018/03/take_5_sheena_iyengar_author_and_expert_on_choice.html |archive-url=https://web.archive.org/web/20180510191447/http://www.nj.com/inside-jersey/index.ssf/2018/03/take_5_sheena_iyengar_author_and_expert_on_choice.html |archive-date=2018-05-10 |access-date=2018-05-10}}</ref>

== See also ==
{{col div|colwidth=30em}}
* [[Cone dystrophy]]
* [[Eye disease|List of eye diseases and disorders]]
* [[Progressive retinal atrophy]] for the condition in dogs
* [[Retinitis pigmentosa GTPase regulator]]
* [[Retinitis Pigmentosa International]]
{{colend}}

== References ==
{{reflist|colwidth=30em}}

== External links ==
{{Medical resources
|   ICD10       = {{ICD10|H|35|5|h|30}}
|   ICD9        = {{ICD9|362.74}}
| DiseasesDB=11429
|   MedlinePlus = 001029
|   OMIM        = 268000
|   MeshID      = D012174
|  GeneReviewsNBK   = NBK1417
|  GeneReviewsName  = Retinitis Pigmentosa Overview
}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1417/  GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview]
* [https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=retinitis+pigmentosa/ NCBI/Molecular diagnosis of retinitis pigmentosa]
<!-- * [http://forums.delphiforums.com/C2ORF71cure  Patient support group for RP54 C2orf71 Retinitis Pigmentosa] -->

{{Eye pathology|globe}}
{{ABC transporter disorders}}
{{Disorders of translation and posttranslational modification}}

{{Authority control}}

[[Category:Channelopathies]]
[[Category:Blindness]]
[[Category:Disorders of choroid and retina]]
[[Category:Wikipedia medicine articles ready to translate]]