Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome
Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome
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DOI：
10.1016/s0161-6420(00)00110-x
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发表时间：
2000-07-01
期刊：
影响因子：
13.7
通讯作者：
Green, WR
中科院分区：
文献类型：
--
作者：
Hayashi, N;Geraghty, MT;Green, WR
目的：报道1例伴有线粒体DNA(MtDNA)T 8993-G点突变的Leigh综合征患者的眼部病理改变。设计：病例报道。干预：一名患有低眼压、发育迟缓、持续性乳酸酸中毒、癫痫发作和共济失调的儿童在15个月大时死于吸入性肺炎。从血液中提取的DNA分析显示，线粒体DNA 8993位T到G点突变呈阳性，突变基因组的比例估计约为95%。尸检发现的脑部异常类型和分布与Leigh综合征患者一致。主要观察指标：左眼进行光镜检查，右眼各节段进行透射电子显微镜检查。结果：黄斑鼻侧神经纤维层和神经节细胞层变薄，视神经头和视神经颞侧轻度萎缩。光镜下可见视网膜色素上皮、无色素睫状体上皮和角膜内皮细胞线粒体大量扩张。结论：本研究报道了伴有T 8993-G点突变的Leigh综合征的眼组织病理学改变。光镜下的发现与先前报道的具有相似特征的患者相似。此外，线粒体超微结构也出现异常。(C)2000年由美国眼科学会授予。
Objective: To report the histopathologic findings of eyes from a patient with Leigh's syndrome associated with the T 8993-G point mutation in mitochondrial DNA (mtDNA).Design: Casereport. Intervention: A child with hypotonia, developmental delay, persistent lactic acidosis, seizures, and ataxia died of aspiration pneumonia at 15 months of age. Analysis of DNA isolated from blood was positive for the T to G point mutation at position 8993 in mtDNA, cmd the proportion of mutant genomes was estimated at approximately 95%. The type and distribution of abnormalities seen in the brain at autopsy were consistent with those in patients with Leigh's syndrome.Main Outcome Measures: The left eye was examined by light microscopy, and segments of the right eye were examined by transmission electron microscopy. Genetic analysis on DNA isolated from blood was performed.Results: Thinning of the nerve fiber and ganglion cell layers was present in the nasal aspect of the macula, and mild atrophy of the temporal aspect of the optic nerve head and optic nerve was present. Electron microscopic study disclosed numerous distended mitochondria in all cells, but particularly in the retinal pigment epithelium, nonpigmented ciliary epithelium, and corneal endothelium.Conclusion: This is a report of the ocular histopathologic findings in Leigh's syndrome with the T 8993-G point mutation. The light microscopic findings were similar to those of patients with similar features reported previously. In addition, ultrastructural abnormalities of mitochondria were present. (C) 2000 by the American Academy of Ophthalmology.