Abstract
To determine the ophthalmologic findings in a 39-year-old woman with the Boucher-Neuhäuser syndrome, which is a disorder of autosomal recessive inheritance characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. The patient underwent clinical and electrophysiologic examinations and fluorescein angiography. The main clinical findings were extensive areas of retinal pigment epithelial and choriocapillaris atrophy affecting the posterior pole and midperiphery of both eyes. Results of electroretinographic examination showed subnormal photopic and scotopic responses. The Boucher-Neuhäuser syndrome should be included in the differential diagnosis of patients with chorioretinal degeneration, particularly if there are neurologic or endocrinologic manifestations.
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