一名患有小脑共济失调、低促性腺激素性性腺功能减退和脉络膜视网膜营养不良患者的眼科检查结果
Ophthalmologic findings in a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.
作者信息
Salvador F, García-Arumí J, Corcóstegui B, Minoves T, Tarrus F
机构信息
Department of Ophthalmology, University Hospital Valle Hebrón, Barcelona, Spain.
出版信息
Am J Ophthalmol. 1995 Aug;120(2):241-4. doi: 10.1016/s0002-9394(14)72612-1.
PURPOSE
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.
目的
确定一名39岁患有布歇-诺伊豪泽综合征女性的眼科检查结果。布歇-诺伊豪泽综合征是一种常染色体隐性遗传疾病，其特征为脊髓小脑共济失调、脉络膜视网膜营养不良和低促性腺激素性性腺功能减退三联征。
方法
该患者接受了临床、电生理检查及荧光素血管造影检查。
结果
主要临床发现为双眼后极部和中周边部广泛的视网膜色素上皮和脉络膜毛细血管萎缩。视网膜电图检查结果显示明视和暗视反应低于正常。
结论
布歇-诺伊豪泽综合征应纳入脉络膜视网膜变性患者的鉴别诊断中，尤其是伴有神经或内分泌表现时。
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