Albinism and its implications with vision.
Albinism is an inherited disorder characterized by a reduction or absence of melanin in the hair, skin, and/or eyes. Tyrosinase, a major enzyme required in the production of melanin, is deficient to varying degrees in albinism. Albinism can be divided into one of two broad categories, oculocutaneous and ocular albinism, based on the involvement of hair, skin and the eyes versus only the eyes, respectively. Common ocular findings include reduced visual acuity, refractive errors, iris transillumination, nystagmus, foveal hypoplasia, fundus hypopigmentation and misrouting of optic nerve fibres at the chiasm. Eye care professionals can play an important role when tending to patients with albinism. This article will provide the reader with an overview of the etiology of albinism, the prevalence, clinical manifestations and management options.
Kirkwood
Bradley J
BJ
Professional Eye Center, P.O. Box 10122, Mackay, Queensland, Australia 4740. bradkirkwood@bigpond.com
D016115:Albinism, Oculocutaneous / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D005838:Genotype; D014943:Global Health; D006801:Humans; D008543:Melanins / Q000378:metabolism*; D010857:Pigment Epithelium of Eye / Q000378:metabolism* / Q000473:pathology; D015995:Prevalence; D011379:Prognosis
D008543:Melanins