Ocular Albinism
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.
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 "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. |