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

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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.

Original languageEnglish (US)
Pages (from-to)610-612
Number of pages3
JournalJournal of AAPOS
Volume13
Issue number6
DOIs
StatePublished - Dec 2009

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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