Ocular albinism is a condition of abnormality in the cellular metabolism of the production of melanin in the ocular tissues. This condition was first described by Nettleship1 in 1909, and since then the male condition has become well known. This usually consists of an albinotic fundus with the choroidal vessels clearly visible through the low-pigmented fundus, absence of the foveal reflex, lowered visual acuity, an iris that transilluminates well with scleral illumination, a pendular horizontal nystagmus, head-nodding in infancy in some cases, photophobia, and poor vision in bright lights. In addition males with ocular albinism tend to be less dark in general pigmentation than unaffected patients. Many have ocular deviations and amblyopias. Falls2 states that head-nodding decreases as infants get older and acquire more pigmentation and that the visual acuity of affected males with some pigmentation in the eye is better than that of males without pigmentation in
GILLESPIE FD. Ocular Albinism with Report of a Family with Female Carriers. Arch Ophthalmol. 1961;66(6):774–777. doi:10.1001/archopht.1961.00960010776003
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