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[GAPO综合征(生长发育迟缓、脱发、假性无牙症、视神经萎缩)的眼科异常。附病例报告]

[Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case].

作者信息

Dellac M, Manouvrier-Hanu S, Rouland J F

机构信息

Service d'Ophtalmologie, C.H.U. de Lille.

出版信息

J Fr Ophtalmol. 1990;13(11-12):547-50.

PMID:2081845
Abstract

G.A.P.O. syndrome is a rare autosomal recessive disorder whose main manifestations are growth retardation, alopecia, pseudo-anodontia, and optic atrophy. Optic atrophy has been reported in 30% of affected patients, along with other optic disc and ophthalmological abnormalities, but their causes remain unclear. We report here the ophthalmological findings in a three-year-old girl suffering from typical G.A.P.O. syndrome with ocular abnormalities and bilateral optic atrophy. Physiopathogenic hypotheses are discussed, especially concerning optic disc alterations which are probably due to intraocular hypertension.

摘要

G.A.P.O.综合征是一种罕见的常染色体隐性疾病,其主要表现为生长发育迟缓、脱发、假性无牙症和视神经萎缩。据报道,30%的患病患者存在视神经萎缩,同时伴有其他视盘和眼科异常,但病因尚不清楚。我们在此报告一名患有典型G.A.P.O.综合征且伴有眼部异常和双侧视神经萎缩的三岁女孩的眼科检查结果。文中讨论了生理致病假说,尤其是关于可能由眼内高压引起的视盘改变。

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