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Article

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

Brain : a journal of neurology - 1 Aug 2014

Bonifert Tobias, Karle Kathrin N, Tonagel Felix, Batra Marion, Wilhelm Christian, Theurer Yvonne, Schoenfeld Caroline, Kluba Torsten, Kamenisch York, Carelli Valerio, Wolf Julia, Gonzalez Michael A, Speziani Fiorella, Schüle Rebecca, Züchner Stephan, Schöls Ludger, Wissinger Bernd, Synofzik Matthis

Abstract excerpt

The genetic diagnosis in inherited optic neuropathies often remains challenging, and the emergence of complex neurological phenotypes that involve optic neuropathy is puzzling. Here we unravel two novel principles of genetic mechanisms in optic neuropathies: deep intronic OPA1 mutations, which explain the disease in several so far unsolved cases; and an intralocus OPA1 modifier, which explains the emergence of...

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Identifiers

PMID: 24970096
DOI: 10.1093/brain/awu165
PMCID: PMC4107747

Genes

OPA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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