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Article

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 - 4 Feb 2023

Gunawardena Kawmadi, Dissanayake Vajira H W, Chang Thashi

Abstract excerpt

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...

Topics

Humans
Male
Female
Adolescent
Optic Atrophy, Hereditary, Leber
Sri Lanka
DNA, Mitochondrial
Vision Disorders
Eye
Blindness
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 36737829
DOI: 10.1186/s13256-023-03763-x
PMCID: PMC9898959

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-36737829-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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