Ophthalmologic findings of Boucher-Neuhäuser syndrome

To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa...

Full description

Saved in:
Bibliographic Details
Published in:Korean journal of ophthalmology 2008, 22(4), , pp.263-267
Main Authors: Yu, Sun Im, Kim, Jung Lim, Lee, Sul Gee, Kim, Hyun Woong, Kim, Sang Jin
Format: Article
Language:English
Subjects:
Adolescent
Atrophy
Case Report
Cerebellum - pathology
Coloring Agents
Electroretinography
Fluorescein Angiography
Humans
Hypogonadism - diagnosis
Hypogonadism - genetics
Indocyanine Green
Magnetic Resonance Imaging
Male
Photoreceptor Cells, Vertebrate - physiology
Retinal Degeneration - diagnosis
Retinal Degeneration - genetics
Retinal Pigment Epithelium - pathology
Retinitis Pigmentosa - diagnosis
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - physiopathology
Spinocerebellar Degenerations - diagnosis
Spinocerebellar Degenerations - genetics
Syndrome
Tomography, Optical Coherence
안과학
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced progressive deterioration of his balance and gait disturbance. Then he was referred to our clinic because Boucher-Neuhäuser syndrome was suspected. He had no specific family history; his visual acuity was 0.04 in both eyes. We observed broad retinal pigment epithelium atrophy and degeneration in both fundi. Both fluorescein and indocyanine green angiography showed choriocapillaris atrophy in the posterior pole area and midperiphery. Macular optical coherence tomography showed thinning of the neurosensory retina. An electroretinographic examination showed no photopic or scotopic responses. The Boucher-Neuhäuser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.
ISSN:1011-8942
2092-9382
DOI:10.3341/kjo.2008.22.4.263