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Article

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Clinical genetics - 1 Sept 2026

Johannesen Katrine M, Grønskov Karen, Kessel Line, Holstein Sarah Linea von, Møller Lisbeth Birk, Andersen Mette Kjøbæk Gundestrup, Khinchi Marianne Søndergaard, Hamann Steffen, Wegener Marianne, Bertelsen Mette

Abstract excerpt

Hereditary optic atrophy is characterized by degeneration of retinal ganglion cells and may result from a wide range of genetic etiologies. While pathogenic variants in OPA1 and primary mitochondrial variants causing Leber hereditary optic neuropathy (LHON) account for a substantial proportion of cases, many patients remain genetically unsolved. We evaluated the diagnostic yield and clinical impact of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42363686
DOI: 10.1111/cge.70203
PMCID: PMC13431836

Genes

OPA1
ACO2
CACNA1F
COQ2
NR2F1
UCHL1
WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

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