DIAGNOSIS OF OCULOCUTANEOUS ALBINISM WITH MOLECULAR ANALYSIS

PURPOSE: To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation. METHODS: A 34-ye ar-old woman with a history of strabismus and absent cutaneous pigment underwent comprehensive ophthalmic examination, visual-evoked potenti als to detect altered optic decussation, and molecular analysis. RESUL TS: Examination showed fine nystagmus, iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25 in each eye. Misrouti ng of the retinostriate fibers was demonstrated with visual-evoked pot entials. Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinic al features. CONCLUSION: Molecular analysis can establish the diagnosi s of oculocutaneous albinism I in the patient with atypical ocular fea tures.