Diagnosis of oculocutaneous albinism with molecular analysis.

Abstract

To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation. 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. 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. Molecular analysis can establish the diagnosis of oculocutaneous albinism 1 in the patient with atypical ocular features.