Table 1 Summary of clinical features of affected males.
From: Deep intronic GPR143 mutation in a Japanese family with ocular albinism
Subject | Sex | Age | Age of onset | Visual acuity (left/right) | Nystagmus | Abnormal head movement | Fundus hypo-pigmentation | Fundus foveal hypoplasia | Iris hypo-pigmentation |
|---|---|---|---|---|---|---|---|---|---|
II:1 | Male | 7 y | Since birth | 0.08/0.08 (corrected 0.3/0.3) | Conjugate, horizontal | No (obvious head tilt) | Yes | Yes | No |
II:2 | Male | 1 y 11âm | Since birth | NA | Conjugate, horizontal | No | Yes | Yes | No |
