OPA1 mutations associated with dominant optic atrophy influence optic nerve head size

Piero Barboni, Michele Carbonelli, Giacomo Savini, Beatrice Foscarini, Vincenzo Parisi, Maria L. Valentino, Arturo Carta, Annamaria De Negri, Federico Sadun, Massimo Zeviani, Alfredo A. Sadun, Simone Schimpf, Bernd Wissinger, Valerio Carelli

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To analyze the influence of OPA1 gene mutations on the optic nerve head (ONH) morphology in patients with dominant optic atrophy (DOA). Design: Cross-sectional study. Participants: Twenty-eight patients with DOA from 11 pedigrees, which were positive for the presence of OPA1 gene mutations, and 56 age-matched control subjects, were enrolled. Methods: The ONH of DOA patients was studied by optical coherence tomography and compared with an age-matched control group of 56 individuals. Main Outcome Measures: ONH area, and vertical and horizontal diameters. Results: The ONH analysis of DOA patients showed a significantly smaller optic disc area (P

Original languageEnglish
Pages (from-to)1547-1553
Number of pages7
JournalOphthalmology
Volume117
Issue number8
DOIs
Publication statusPublished - 2010

ASJC Scopus subject areas

  • Ophthalmology

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