[婴儿型雷夫叙姆病的眼科表现：附3例报告]
[Ophthalmological manifestations of infantile Refsum's disease: apropos of 3 cases].
作者信息
Van der Maren V, Cordonnier M, Van Maldergem L, Van Nechel C
机构信息
Service d'Ophtalmologie, Hôpital Erasme, Bruxelles.
出版信息
Bull Soc Belge Ophtalmol. 1993;250:79-84.
PMID:7524968
Abstract
We describe the ophthalmic manifestations of 3 cases of infantile Refsum's disease. The gravity and the aspect of the retinal disorders which we have observed by ophthalmoscopy and electroretinography were quite different from one case to another, including two siblings. We then go on to discuss the pathogeny and the genetic basis of diseases due to a deficiency of the peroxisomal biogenesis.
摘要
我们描述了3例婴儿型雷夫叙姆病的眼部表现。通过检眼镜检查和视网膜电图观察到的视网膜病变的严重程度和表现，在包括两名兄弟姐妹的3例患者中各不相同。接着，我们继续讨论因过氧化物酶体生物发生缺陷所致疾病的发病机制和遗传基础。
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