|Classification and external resources|
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar.:865
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.
|Ocular albinism, type 1 (OA1)||300500||GPR143||Also known as Nettleship-Falls syndrome, 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||Also known as Forsius-Eriksson syndrome or "Åland Island 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.|
- "Ocular albinism - Genetics Home Reference".
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- synd/990 at Who Named It?
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- synd/1336 at Who Named It?
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