ocular albinism with late-onset sensorineural deafness
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.
MONDO:0017304
ocular albinism
is_a
OASD
related
albinism ocular late onset sensorineural deafness
related
albinism, ocular, with late-onset sensorineural deafness
related