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Article

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.

Genes - 24 Apr 2024

de Muijnck Cansu, Brink Jacoline B Ten, de Haan Hugoline G, Rodenburg Richard J, Wolf Nicole I, Bergen Arthur A, Boon Camiel J F, van Genderen Maria M

Abstract excerpt

Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of ION, the underlying genetic variants remain unknown. In this case study, we describe a...

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Identifiers

PMID: 38790159
DOI: 10.3390/genes15050530
PMCID: PMC11121614

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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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