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Article

Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.

Molecular vision - 1 Jan 2021

Sundaramurthy Srilekha, Selvakumar Ambika, Dharani Vidhya, Soumittra Nagasamy, Mani Jayaprakash, Thirumalai Karthiyayini, Periyasamy Porkodi, Mathavan Sinnakaruppan, Sripriya Sarangapani

Abstract excerpt

PURPOSE: Genetic testing for primary mutations m.3460G>A, m.11778G>A, and m.14484T>C in ND1, ND4, and ND6 genes of mitochondrial DNA is the recommended assay for Leber hereditary optic neuropathy (LHON; OMIM 535000). This report discusses the outcome of molecular genetic screening for these three primary mutations in suspected LHON cases in India. METHODS: Two hundred and seventy-eight unrelated presumed LHON...

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PMID: 35035206
PMCID: PMC8711579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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