DESCRIPTION: A hereditary deficiency of pigmentation, which may involve the entire body (complete albinism) or a part of the body (incomplete albinism); believed to be caused by an enzyme deficiency involving the metabolism of melanin during prenatal development; inherited as an autosomal dominant or recessive trait; in the X-linked type, ocular albinism is only visible ophthalmologically in the female carrier; in complete albinism, there is usually lack of pigmentation in skin and hair, as well as in retinal & iris tissue; in incomplete albinism, skin and hair may vary from pale to normal; in ocular albinism, function may vary from normal to impaired. Impairments may involve the retina (especially the macula) and iris; photophobia, nystagmus, and refractive errors are typical. If acuity is decreased, it commonly ranges between 20/70 and 20/200. Visual fields are variable; color vision is usually normal. Prognosis: non-progressive.
TREATMENT: Optical correction of refractive errors; tinted or pinhole contact lenses; absorptive lenses; optical aids, lowered illumination if needed; genetic counseling recommended.
IMPLICATIONS: Adjust illumination to conditions and individual (i.e., control glare via seating and/or tinted lenses; use sunglasses and/or hat with visor outdoors). Classroom seating should be appropriate to the corrected refractive error and photophobia. Should be evaluated for low vision aids. Genetic implications should be noted.