title: X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers.
abstract: In a group of 15 males with X-linked ocular albinism and 13 obligate carriers of the gene for the condition skin biopsy in a search for giant pigment granules with light microscopy and macromelanosomes with electron microscopy gave positive results more often than iris transillumination and funduscopy. Thus, skin biopsy should significantly improve the detection of both affected males and carriers.
mesh_terms: D000417:Albinism / Q000175:diagnosis / Q000235:genetics*; D001706:Biopsy; D005260:Female; D005654:Fundus Oculi; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007498:Iris; D008297:Male; D008544:Melanocytes / Q000648:ultrastructure; D008854:Microscopy, Electron; D012730:Sex Chromosomes; D012737:Sex Factors; D012867:Skin / Q000473:pathology; D014172:Transillumination; D014960:X Chromosome