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Article

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy.

Molecular vision - 10 Feb 2010

Gallus Gian Nicola, Cardaioli Elena, Rufa Alessandra, Da Pozzo Paola, Bianchi Silvia, D'Eramo Camilla, Collura Michele, Tumino Manuela, Pavone Lorenzo, Federico Antonio

Abstract excerpt

PURPOSE: Autosomal dominant optic atrophy (ADOA) is the most common form of hereditary optic neuropathy caused by mutations in the optic atrophy 1 (OPA1) gene. It is characterized by insidious onset with a selective degeneration of retinal ganglion cells, variable loss of visual acuity, temporal optic nerve pallor, tritanopia, and development of central, paracentral, or cecocentral scotomas. Here we describe the...

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Source

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Identifiers

PMID: 20157369
PMCID: PMC2820104

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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