非典型性Leber遗传性视神经病变：双眼发病间隔18年。

Atypical Leber Hereditary Optic Neuropathy: 18 Year Interval Between Eyes.

作者信息

Ohden Kaitlyn L, Tang Peter H, Lilley Chrystia C, Lee Michael S

机构信息

Department of Ophthalmology and Visual Neurosciences (KLO, PHT, CCL, MSL), University of Minnesota, Minneapolis, Minnesota.

出版信息

J Neuroophthalmol. 2016 Sep;36(3):304. doi: 10.1097/WNO.0000000000000346.

DOI:10.1097/WNO.0000000000000346

PMID:26819093

Abstract

A 5-year-old boy developed profound loss of vision in his right eye and was found to have a 11778 mitochondrial point mutation consistent with Leber hereditary optic neuropathy (LHON). He maintained 20/20 vision in the left eye for 18 years until age 23, when he experienced loss of vision in that eye. This 18 year interval between eye involvement in LHON is the longest reported to date and reinforces the variability in presentation and progression seen in this disease.

摘要

一名5岁男孩右眼出现严重视力丧失，经检查发现存在与Leber遗传性视神经病变（LHON）相符的11778线粒体点突变。他的左眼保持20/20视力达18年之久，直到23岁时该眼也出现视力丧失。LHON双眼受累之间长达18年的间隔是迄今为止报道的最长时间，这进一步证明了该疾病在表现和进展方面的变异性。