Types
Name | OMIM | Gene | Description |
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 "Ă…land Island eye disease", mostly only 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. |
Read more about this topic: Ocular Albinism
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