title: Retinal vascular and optic nerve abnormalities in albinism.
abstract: Albinism is a condition in which the pigment melanin may not be synthesized from tyrosine. The fundus photographs of 24 eyes of 12 patients with the clinical diagnosis of either ocular or oculocutaneous albinism were reviewed. We observed two findings that to our knowledge have not been reported previously. Eighteen eyes of ten patients had prominent retinal vessels coursing through the putative macular area instead of arching around it. Large noncilioretinal vessels extended from the disc to the dysplastic "foveal zone" in eight eyes of five patients. Typical optic nerve hypoplasia (ONH) was seen in six eyes of four patients; features suggestive of ONH were present in an additional ten eyes of six patients. The cross-over (sharing) of clinical features between albinism and aniridia is striking and raises questions about pathophysiologic mechanisms.
mesh_terms: D000417:Albinism / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D005654:Fundus Oculi; D006801:Humans; D009900:Optic Nerve / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D012164:Retinal Diseases / Q000209:etiology / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology; D014785:Vision, Ocular