Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. Disease data Klasyfikacja Disease Synonimy OCA5 OCA5 Kod ORPHA 370091 Kod OMIM 615312 Kod ICD10 E70.3 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl