Olivopontocerebellar atrophy with retinal degeneration. An electroretinographic and histopathologic investigation.
Olivopontocerebellar atrophy with retinal degeneration. An electroretinographic and histopathologic investigation.
复制标题
橄榄脑桥小脑萎缩伴视网膜变性。
DOI：
10.1016/s0161-6420(93)31702-1
复制
发表时间：
1993
期刊：
影响因子：
13.7
通讯作者：
E. Berson
中科院分区：
文献类型：
--
作者：
King To;M. Adamian;F. Jakobiec;E. Berson
背景：橄榄桥脑小脑萎缩是一种少见的疾病，临床表现多样，累及小脑、脊髓小脑束和脑干的其他结构。谷氨酸脱氢酶缺乏导致谷氨酸过量，已被认为在橄榄脑桥小脑萎缩的发病机制中起作用。在实验动物中，已知毒性水平的谷氨酸会导致视网膜电图（ERG）测试中的b波选择性丧失和视网膜内层变性。橄榄体桥脑小脑萎缩，II型，根据哈丁的分类，亚型之一，与retinal degeneration.Methods：作者描述了一个家庭橄榄体桥脑小脑萎缩II型的眼科和ERG的结果。从一个6岁的家庭成员谁死于严重的神经功能恶化继发于橄榄脑桥小脑萎缩II型histologic研究的眼睛carried.Results：视网膜电图的变化可能存在于受影响的家庭成员谁是完全无症状，并有一个正常的眼科评价。在一个病人的ERG的变化表明，视锥功能障碍是一个微妙的变化，可能会看到橄榄脑桥小脑萎缩II型。我们的ERG结果没有显示b波的选择性损失，而是显示了受影响的家庭成员的a波和b波的损失。光镜和电镜检查结果显示，涉及杆和锥的光感受器的弥漫性和广泛变性，最突出的变化存在于黄斑。一个无定形的碎片，大概是退化的光感受器，注意到之间的外核层和视网膜色素epithelium.Conclusion：橄榄体脑桥小脑萎缩II型患者有感光细胞异常，发现在异常的ERG在许多患者和病理组织学研究的尸检眼睛从一个受影响的6岁的男孩。我们的研究结果不支持谷氨酸毒性可能是这种情况下视网膜变性发展的原因的假设。
Background:Olivopontocerebellar atrophy is an uncommon disorder with variable clinical manifestations that affects the cerebellum, the spinocerebellar tracts, and other structures of the brainstem. A deficiency of glutamate dehydrogenase, which results in an excess of glutamate, has been suggested to play a role in the pathogenesis of olivopontocerebellar atrophy. In experimental animals, toxic levels of glutamate are known to cause a selective loss of the b-wave on electroretinographic (ERG) testing and a degeneration of the inner retinal layers. One of the subtypes of olivopontocerebellar atrophy, type II, according to Harding's classification, is associated with retinal degeneration.Methods:The authors describe the ophthalmologic and ERG findings in a family with olivopontocerebellar atrophy type II. Histopathologic study of an eye from a 6-yearold family member who died of severe neurologic deterioration secondary to olivopontocerebellar atrophy type II was performed.Results:Electroretinographic changes may be present in affected family members who are entirely asymptomatic and have a normal ophthalmologic evaluation. The changes on the ERG in one patient suggest that cone dysfunction is one of the subtle changes that may be seen in olivopontocerebellar atrophy type II. Our ERG results did not show a selective loss of the b-wave but instead showed a loss of both the a-wave and b-wave in affected family members. Results of light and electron microscopic examination showed diffuse and extensive degeneration of the photoreceptors involving both rods and cones, the most prominent changes being present in the macula. An amorphous debris, presumably degenerated photoreceptors, was noted between the outer nuclear layer and retinal pigment epithelium.Conclusion:Patients with olivopontocerebellar atrophy type II have photoreceptor abnormalities as revealed in abnormal ERGs seen in many patients and histopathologic study of an autopsy eye from an affected 6-year-old boy. Our results do not support the hypothesis that glutamate toxicity may be responsible for the development of retinal degeneration in this condition.
影响因子：
56.9
作者：
A. Plaitakis;S. Berl;Yahr
通讯作者：
A. Plaitakis;S. Berl;Yahr
眼部表现为伴有视紫红质基因缺陷的色素性视网膜炎。
DOI：
--
发表时间：
1990
期刊：
Transactions of the American Ophthalmological Society
影响因子：
--
作者：
Berson,EL
通讯作者：
Berson,EL