Journal
JOURNAL OF AAPOS
Volume 13, Issue 6, Pages 610-612Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jaapos.2009.09.015
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Funding
- National Eye Institute, Bethesda, Maryland [907091]
- Research to Prevent Blindness, Inc., New Fork
- Guerrieri Retinal Research Fund at the Wilmer Eye Institute
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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.
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