Ocular albinism
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Template:Infobox medical condition (new) Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]Template:Rp
Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]
Types
| Name | OMIM | Gene | Description |
|---|---|---|---|
| Ocular albinism, type 1 (OA1) | 300500 | GPR143 | Also known as Nettleship–Falls syndrome,[4][5][6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms. |
| Ocular albinism, type 2 (OA2) | 300600 | CACNA1F[7] | Also known as Forsius–Eriksson syndrome[8][9] or "Åland eye disease", mostly affects males, though females are often carriers and can sometimes be symptomatic; it is frequently linked with protanopic dichromacy (a form of color blindness) and with night blindness (nyctalopia). |
| Ocular albinism with sensorineural deafness (OASD) | 300650 | ? (Xp22.3) | Is, as its name implies, associated with loss of hearing. May be the same as OA1.[10] |
References
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- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Template:ISBN.
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- ↑ synd/990 at Whonamedit?
- ↑ E. Nettleship. On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57-198.
- ↑ H. F. Falls. Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, Chicago, 1951, 34: 41-50.
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- ↑ synd/1336 at Whonamedit?
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External links
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