Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report

Frontiers in Medicine

article

Qingdan Xu¹  Ping Sun¹  Chaoyi Feng²  Qian Chen²  Xinghuai Sun¹  Yuhong Chen¹  Guohong Tian¹ 

[1] Department of Ophthalmology, Eye and ENT Hospital, Fudan University;NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, and Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University;State Key Laboratory of Medical Neurobiology, Institute of Brain Science, Fudan University

关键词: Leber hereditary optic neuropathy;    mitochondrial disorder;    mitochondrial DNA;    ophthalmoplegia;    optic atrophy;   

DOI  :  10.3389/fmed.2022.912103

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

The T12811C mitochondrial DNA (mtDNA) mutation has been reported in Leber hereditary optic neuropathy (LHON) previously, with vision loss as the main manifestation. The involvement of other organ systems, including the central and peripheral nervous system, heart, and extraocular muscles, has not been well described. This case series report investigated four patients with T12811C mtDNA mutation, verified through a next generation sequencing. Two male patients presented with bilateral subacute visual decrease combined with involvement of multiple organ systems: leukoencephalopathy, hypertrophic cardiomyopathy, neurosensory deafness, spinal cord lesion and peripheral neuropathies. Two female patients presented with progressive ptosis and ophthalmoplegia, one of whom also manifested optic atrophy. This study found out that patients harboring T12811C mtDNA mutation manifested not only as vision loss, but also as a multi-system disorder affecting the nervous system, heart, and extraocular muscles.

【 授权许可】

CC BY