Albinism is an inherited defect of melanin production that results in partial or full absence of pigment from the skin, hair, and eyes. The individual presents a striking picture, whatever their racial origin, of pale skin, blonde hair and lashes, and pale blue translucent irides which appear pinkish.
Signs and Symptoms: Photophobia is a classic textbook complaint which is not universal. It varies from mild difficulty with glare, which is the rule, to light intolerance, which is the exception.
Characteristics: The absence of body and eye pigment.
Prognosis: nonprogressive; even complete albinos tend to have diminishing nystagmus and/ or light sensitivity with age.
Lighting: Glare from windows may reduce visual functions. Average illumination is suitable for most albinos. Glare is more troublesome than a high general level of lighting.
Incomplete Albinism This group shows varying degrees of pigment insufficiency; a characteristic though not as obvious light skin, lack of tanning, light brown to blonde hair, and light eyelashes.
Inheritance is either autosomal dominant or recessive. The prognosis is good. Photophobia is not the rule.
Ocular Albinism This group is of particular interest because it is frequently missed, appearing under the heading of "amblyopia of unknown etiology." Because the transmission is sex-linked, it affects males only, but the mother may show transillumination of the iris and/or pigment clumping in the periphery although she has normal vision.
The patient usually has normal coloring of skin and hair; the iris tends to be greenish-brown or blue. Fine nystagmus is present. The visual acuity is usually 20/200 or slightly better. There is macular hypoplasia and often a significant refractive error.