Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report.
A Japanese male with Nettleship-Falls X-linked ocular albinism (NXOA) and associated with Axenfeld's anomaly is described here. The diagnosis of X-linked ocular albinism was difficult because of moderately pigmented fundus and lack of iris translucency, but macromelanosomes recognized by histological study of skin biopsy were helpful for diagnosis. This is the first report identifying the macromelanosomes in Japanese NXOA. A combination of ocular albinism and Axenfeld's anomaly is very rare. There might be a common defective factor for the development of these two congenital disorders.
D000417:Albinism / Q000235:genetics* / Q000473:pathology; D002648:Child; D003315:Cornea / Q000002:abnormalities*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome