/ocular albinism with late-onset sensorineural deafness

ocular albinism with late-onset sensorineural deafness

Rare Disease

MONDO:0010390

Also Known As

OASDalbinism ocular late onset sensorineural deafnessalbinism, ocular, with late-onset sensorineural deafnessdeafness and ocular albinismocular albinism with sensorineural deafness

Definition

Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.