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

doi:10.1016/j.ophtha.2009.12.042

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 journal › Article › peer-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 language	English
Pages (from-to)	1547-1553
Number of pages	7
Journal	Ophthalmology
Volume	117
Issue number	8
DOIs	https://doi.org/10.1016/j.ophtha.2009.12.042
Publication status	Published - 2010

ASJC Scopus subject areas

Ophthalmology

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OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. / Barboni, Piero; Carbonelli, Michele; Savini, Giacomo; Foscarini, Beatrice; Parisi, Vincenzo ; Valentino, Maria L.; Carta, Arturo; Negri, Annamaria De; Sadun, Federico; Zeviani, Massimo; Sadun, Alfredo A.; Schimpf, Simone; Wissinger, Bernd; Carelli, Valerio.

In: Ophthalmology, Vol. 117, No. 8, 2010, p. 1547-1553.

Research output: Contribution to journal › Article › peer-review

Barboni, Piero ; Carbonelli, Michele ; Savini, Giacomo ; Foscarini, Beatrice ; Parisi, Vincenzo ; Valentino, Maria L. ; Carta, Arturo ; Negri, Annamaria De ; Sadun, Federico ; Zeviani, Massimo ; Sadun, Alfredo A. ; Schimpf, Simone ; Wissinger, Bernd ; Carelli, Valerio. / OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. In: Ophthalmology. 2010 ; Vol. 117, No. 8. pp. 1547-1553.

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title = "OPA1 mutations associated with dominant optic atrophy influence optic nerve head size",

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",

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

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AU - Barboni, Piero

AU - Carbonelli, Michele

AU - Savini, Giacomo

AU - Foscarini, Beatrice

AU - Parisi, Vincenzo

AU - Valentino, Maria L.

AU - Carta, Arturo

AU - Negri, Annamaria De

AU - Sadun, Federico

AU - Zeviani, Massimo

AU - Sadun, Alfredo A.

AU - Schimpf, Simone

AU - Wissinger, Bernd

AU - Carelli, Valerio

PY - 2010

Y1 - 2010

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AB - 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

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