X-linked inheritance of ocular albinism with late-onset sensorineural deafness.
We have investigated a large Afrikaner kindred in which seven males had ocular albinism and late-onset sensorineural deafness (OASD). The pattern of inheritance of OASD is X-linked recessive. To the best of our knowledge, this association has not previously been reported and in order to establish syndromic identity we describe and discuss the condition in this article.
D000328:Adult; D000417:Albinism / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008544:Melanocytes / Q000473:pathology; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000002:abnormalities*; D012867:Skin / Q000473:pathology; D014960:X Chromosome