Albinism
Albinism (Brown Oculocutaneous Albinism; Nettleship Falls Syndrome) 37
General: Congenital hypopigmentation.
1. Complete. Ocular: Iris thin, pale blue; prominent choroidal vessels 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.
Brodsky MC, et al. Magnetic resonance imaging of the visual pathways in human albinos. J Pediatr Ophthalmol Strabismus 1993; 30:382-385.
Fitzgerald K, Cibis GW: The value of flash visual evoked potentials in albinism. J Pediatr Ophthalmol Strabismus 1994; 31:18-25.
Flander M, Young D. Atypical sensory nystagmus and its surgical management. Can J Ophthalmol 1983; 18:349-351.
Francois J. Albinism. Ophthalmologica 1979; 178: 19-31.
Fulton AB, et al. Human albinism. Light and electron microscopy study. Arch Ophthalmol 1978; 96:305-310.
Harley RD. Pediatric ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.
Hoeft WW, Hughes MK. A comparative study of low-vision patients: their ocular disease and preference for one specific series of light transmission filters. Am J Optom Physiol Opt 1981; 58:841-845.
King RA, et al. Brown oculocutaneous albinism. Ophthalmology 1985; 92:1496-1504.
Taylor WOG. Visual disabilities of oculocutaneous albinism and their alleviation. Trans Ophthalmol Soc U K 1978; 98:423-445.
Witkop CJ. Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Ala J Med Sci 1979; 16:327-330.
General: Congenital hypopigmentation.
1. Complete. Ocular: Iris thin, pale blue; prominent choroidal vessels 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.
Brodsky MC, et al. Magnetic resonance imaging of the visual pathways in human albinos. J Pediatr Ophthalmol Strabismus 1993; 30:382-385.
Fitzgerald K, Cibis GW: The value of flash visual evoked potentials in albinism. J Pediatr Ophthalmol Strabismus 1994; 31:18-25.
Flander M, Young D. Atypical sensory nystagmus and its surgical management. Can J Ophthalmol 1983; 18:349-351.
Francois J. Albinism. Ophthalmologica 1979; 178: 19-31.
Fulton AB, et al. Human albinism. Light and electron microscopy study. Arch Ophthalmol 1978; 96:305-310.
Harley RD. Pediatric ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.
Hoeft WW, Hughes MK. A comparative study of low-vision patients: their ocular disease and preference for one specific series of light transmission filters. Am J Optom Physiol Opt 1981; 58:841-845.
King RA, et al. Brown oculocutaneous albinism. Ophthalmology 1985; 92:1496-1504.
Taylor WOG. Visual disabilities of oculocutaneous albinism and their alleviation. Trans Ophthalmol Soc U K 1978; 98:423-445.
Witkop CJ. Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Ala J Med Sci 1979; 16:327-330.
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