Ophthalmologic findings in a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.
OBJECTIVE
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.


METHODS
The patient underwent clinical and electrophysiologic examinations and fluorescein angiography.


RESULTS
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.


CONCLUSIONS
The Boucher-Neuhäuser syndrome should be included in the differential diagnosis of patients with chorioretinal degeneration, particularly if there are neurologic or endocrinologic manifestations.
Salvador
F
F
Department of Ophthalmology, University Hospital Valle Hebrón, Barcelona, Spain.
García-Arumí
J
J
Corcóstegui
B
B
Minoves
T
T
Tarrus
F
F
D000328:Adult; D001284:Atrophy; D002829:Choroid / Q000098:blood supply; D015862:Choroid Diseases / Q000235:genetics / Q000473:pathology*; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006065:Gonadotropins, Pituitary / Q000172:deficiency*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012160:Retina / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology*; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D013577:Syndrome; D014792:Visual Acuity
D006065:Gonadotropins, Pituitary