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Journal of Medical Case Reports

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Open Access 01-12-2023 | Case report

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

Authors: Kawmadi Gunawardena, Vajira H. W. Dissanayake, Thashi Chang

Published in: Journal of Medical Case Reports | Issue 1/2023

Abstract

Introduction

Leber 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 presentation

A 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.

Conclusions

This 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.

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Title: The first genetically authenticated case of Leber hereditary optic neuropathy in Sri Lanka: a case report and review of the literature
Authors: Kawmadi Gunawardena
Vajira H. W. Dissanayake
Thashi Chang
Publication date: 01-12-2023
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2023
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-023-03763-x

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Introduction

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Introduction

Case presentation

Conclusions

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