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Am J Ophthalmol. 1996 Jun;121(6):724-6.

Diagnosis of oculocutaneous albinism with molecular analysis.

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  • 1Department of Ophthalmology, University of Minnesota, USA.

Abstract

PURPOSE:

To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation.

METHODS:

A 34-year-old woman with a history of strabismus and absent cutaneous pigment underwent comprehensive ophthalmic examination, visual-evoked potentials to detect altered optic decussation, and molecular analysis.

RESULTS:

Examination showed fine nystagmus, iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25 in each eye. Misrouting of the retinostriate fibers was demonstrated with visual-evoked potentials. Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinical features.

CONCLUSIONS:

Molecular analysis can establish the diagnosis of oculocutaneous albinism 1 in the patient with atypical ocular features.

PMID:
8644824
[PubMed - indexed for MEDLINE]
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