Conjunctival biopsy in infantile neuroaxonal dystrophy

被引:3
|
作者
Ferreira, RC
Mierau, GW
Bateman, JB
机构
[1] UNIV COLORADO,CHILDRENS HOSP,DEPT OPHTHALMOL,BOULDER,CO 80309
[2] UNIV COLORADO,CHILDRENS HOSP,DEPT PATHOL,BOULDER,CO 80309
[3] UNIV FED SAO PAULO,DEPT OPHTHALMOL,SAO PAULO,BRAZIL
关键词
D O I
10.1016/S0002-9394(14)71051-7
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
PURPOSE: To describe a case of infantile neuroaxonal dystrophy with optic nerve atrophy and to discuss the diagnostic role of conjunctival biopsy. METHODS: We performed a complete ophthalmologic examination and a diagnostic conjunctival biopsy on a girl with a neurodegenerative disease. RESULTS: On the basis of ''spheroid'' inclusions in the unmyelinated axons, we diagnosed infantile neuoroaxonal dystrophy. CONCLUSIONS: Optic atrophy is an important finding in infantile neuroaxonal dystrophy, and conjunctival biopsy is a reliable and very convenient diagnostic test.
引用
收藏
页码:264 / 266
页数:3
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