Oculocutaneous albinism associated with Apert's syndrome.
Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. Iris transillumination and hypopigmentation of the fundus were present and associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. The evidence indicated that the lack of pigmentation associated with the characteristic skeletal anomalies of Apert's syndrome resulted from a disturbance of independent, genetically related, processes occurring at a common point in gestation.
D000168:Acrocephalosyndactylia / Q000150:complications*; D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000196:embryology; D003398:Craniosynostoses / Q000150:complications*; D005260:Female; D006200:Hair Color; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D010787:Photosensitivity Disorders / Q000150:complications; D013577:Syndrome; D014172:Transillumination; D014792:Visual Acuity