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Article

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

Journal of the neurological sciences - 15 Apr 2012

Ranieri Michela, Del Bo Roberto, Bordoni Andreina, Ronchi Dario, Colombo Irene, Riboldi Giulietta, Cosi Alessandra, Servida Maura, Magri Francesca, Moggio Maurizio, Bresolin Nereo, Comi Giacomo P, Corti Stefania

Abstract excerpt

Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60-70% of ADOA cases. A subset of missense mutations, mostly within the GTPase domain, has recently been associated with a syndromic ADOA form called "OPA1 plus" phenotype...

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Identifiers

PMID: 22197506
DOI: 10.1016/j.jns.2011.12.002
PMCID: PMC3315002

Genes

OPA1

Provenance

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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