title: Ophthalmologic findings of Boucher-Neuhäuser syndrome.
abstract: 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.
authors.affiliation: Department of Ophthalmology, College of Medicine, Inje University, Pusan, Korea.
authors.forename: Sun Im
authors.initials: SI
authors.lastname: Yu
authors.forename: Jung Lim
authors.initials: JL
authors.lastname: Kim
authors.forename: Sul Gee
authors.initials: SG
authors.lastname: Lee
authors.forename: Hyun Woong
authors.initials: HW
authors.lastname: Kim
authors.forename: Sang Jin
authors.initials: SJ
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D004396:Coloring Agents; D004596:Electroretinography; D005451:Fluorescein Angiography; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics; D007208:Indocyanine Green; D008279:Magnetic Resonance Imaging; D008297:Male; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D041623:Tomography, Optical Coherence
chemical_list: D004396:Coloring Agents; D007208:Indocyanine Green