Abstract
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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Albinism, Ocular / diagnosis
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Albinism, Ocular / genetics*
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Child
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DNA Mutational Analysis
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Female
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Fluorescein Angiography
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Fovea Centralis / abnormalities*
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Fovea Centralis / pathology
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Genotype
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Heterozygote
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Humans
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Monophenol Monooxygenase / genetics
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Mutation
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Nystagmus, Pathologic / diagnosis*
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Photophobia / diagnosis*
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Tomography, Optical Coherence
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Vision Disorders / diagnosis*
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Visual Acuity / physiology