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Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision

2009; Elsevier BV; Volume: 13; Issue: 6 Linguagem: Inglês

10.1016/j.jaapos.2009.09.015

1528-3933

Anup A. Kubal, Gislin Dagnelie, Morton H. Goldberg,

Skin Protection and Aging

A 9-year-old Caucasian girl of northern European ancestry presented with findings suggestive of ocular albinism, although she maintains good visual acuity and lacks nystagmus and photophobia. DNA analysis revealed that the patient is a compound heterozygote for mutations in the tyrosinase gene, which is typically associated with overt, generalized oculocutaneous albinism and severe ocular symptoms. Her particular genotype confers no apparent cutaneous disease and only mild ocular features. A 9-year-old Caucasian girl of northern European ancestry presented with findings suggestive of ocular albinism, although she maintains good visual acuity and lacks nystagmus and photophobia. DNA analysis revealed that the patient is a compound heterozygote for mutations in the tyrosinase gene, which is typically associated with overt, generalized oculocutaneous albinism and severe ocular symptoms. Her particular genotype confers no apparent cutaneous disease and only mild ocular features.