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Article

Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Sept 2023

Petrović Pajić Sanja, Suštar Habjan Maja, Brecelj Jelka, Fakin Ana, Volk Marija, Maver Aleš, Jezernik Gregor, Peterlin Borut, Glavač Damjan, Hawlina Marko, Jarc-Vidmar Martina

Abstract excerpt

BACKGROUND: A Slovenian three-generation family with 3 individuals with bilateral optic neuropathy and 2 unaffected relatives with a novel homoplasmic missense variant m.13042G > T (A236S) in the ND5 gene is described. A detailed phenotype at initial diagnosis and a follow-up of bilateral optic neuropathy progression is presented for 2 affected individuals. METHODS: A detailed phenotype analysis with clinical...

Topics

Male
Humans
Optic Atrophy, Hereditary, Leber
DNA, Mitochondrial
Mitochondria
Phenotype
Vision Disorders
Blindness
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36897664
DOI: 10.1097/WNO.0000000000001820

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-36897664-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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