OPHTHALMOLOGIC FINDINGS IN A PATIENT WITH CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, AND CHORIORETINAL DYSTROPHY

PURPOSE: To determine the ophthalmologic findings in a 39-year-old wom an with the Boucher Neuhauser syndrome, which is a disorder of autosom al recessive inheritance characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. M ETHODS: The patient underwent clinical and electrophysiologic examinat ions and fluorescein angiography. RESULTS: The main clinical findings were extensive areas of retinal pigment epithelial and choriocapillari s atrophy affecting the posterior pole and midperiphery of both eyes, Results of electroretinographic examination showed subnormal photopic and scotopic responses. CONCLUSIONS: The Boucher-Neuhauser syndrome sh ould be included in the differential diagnosis of patients with chorio retinal degeneration, particularly if there are neurologic or endocrin ologic manifestations.