Albinism (brown oculocutaneous albinism; nettleship falls syndrome)

General: Congenital hypopigmentation.

1. Complete.

Ocular: Iris thin, pale blue; prominent choroidal vesse 323g68d ls with poorly defined fovea; nystagmus; head nodding; frequently myopic astigmatism and strabismus; marked photophobia; eyelashes and eyebrows are white; optic atrophy; cataract; abnormal decussation of retinogeniculate axons at the chiasm.

Clinical: White hair, eyebrows, and skin; autosomal recessive.

2. Modified complete.

Ocular: Slight pigmentation at pupillary border; may be nystagmus, photophobia, and myopia; choroidal vessels prominent.

Clinical: Negroes; slight pigmentation; golden hair; tendency to hyperkeratoses; freckling in exposed areas of skin; autosomal recessive.

3. Ocular.

Ocular: Marked deficiency of pigment in iris and choroid; nystagmus and myopic astigmatism; iris of female carrier frequently is translucent; macular hypoplasia; photophobia; pigmentation of retinal pigment epithelium.

Clinical: Normal pigmentation elsewhere; autosomal recessive.

4. Amish.

Ocular: At birth, complete albinism with blue translucent irides and albinotic fundal reflex; nystagmus; photophobia; increasing pigmentation with age; abnormal decussation of retinogeniculate axons at the chiasm.

Clinical: White hair and skin at birth; increasing pigmentation with yellow hair and normal skin that tans; autosomal recessive.

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