The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature

Journal of Medical Case Reports

Case Report

Vajira H. W. Dissanayake¹  Thashi Chang²  Kawmadi Gunawardena³ 

[1] Department of Anatomy, Genetics and Bioinformatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka;Department of Clinical Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka;Professorial Unit in Medicine, National Hospital of Sri Lanka and Postgraduate Institute of Medicine, Colombo, Sri Lanka;

关键词: Mitochondrial;    Variable penetrance;    Male predominance;    Blindness;   

DOI  :  10.1186/s13256-023-03763-x

 received in 2022-08-12, accepted in 2023-01-05,  发布年份 2023

来源: Springer

【 摘 要 】

IntroductionLeber hereditary optic neuropathy is a genetic disease of mitochondrial inheritance characterized by bilateral irreversible vision loss, predominantly affecting males. We report the first genetically authenticated Sri Lankan case of Leber hereditary optic neuropathy, illustrating its characteristic features of male predominance and variable penetrance.Case presentationA 15-year-old previously healthy Sri Lankan boy presented with painless progressive vision loss in his right eye, followed by vision loss in his left eye within 3 months. There was no history of drug or toxin exposure, or a family history of vision loss. His parents were nonconsanguineous. On examination, he could only perceive light. Funduscopy revealed bilateral optic atrophy. Routine hematological and biochemical blood tests, including inflammatory markers, were normal. Cranial magnetic resonance imaging was unremarkable. Optical coherence tomography, and the clinical presentation, suggested a diagnosis of Leber hereditary optic neuropathy, which was confirmed by detection of m.14484T > C pathogenic variant in the MT-ND6 gene through targeted genetic analysis for the three common pathogenic variants in mitochondrial deoxyribonucleic acid. He was homoplasmic for the variant, and his asymptomatic mother and two female siblings were also found to be harboring the variant with homoplasmy.ConclusionsThis case report is intended to increase awareness of Leber hereditary optic neuropathy, and highlights the need to consider this rare diagnosis in the appropriate clinical context. It also illustrates the phenomena of incomplete penetrance and male predominance, and suggests the possibility of an X-linked gene governing Leber hereditary optic neuropathy disease expression, which warrants further investigation.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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