Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

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Identifier 20140304_nanos_posters_146
Title Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation
Creator Maria Lucia Cascavilla; Valerio Carelli; Giacomo Savini; Leonardo Caporali; Jacopo Milesi; Enrico Borrelli; Chiara La Morgia; Giacinto Triolo; Andrea Lembo; Arturo Carta; Luisa Pierro; Massimo Zeviani; Alfredo A. Sadun; Piero Barboni; Francesco Bandello
Affiliation (MLC) (JM) (EB) (GT) (LP) (PB) (FB) Scientific Institute San Raffaele, Milan, Italy; (VC) (CL) University of Bologna, Bologna, Italy; (VC) (LC) (CL) IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; (GS) G.B Department of Biomedical and Neuromotor Sciences (DIBINEM), Bietti Foundation Rome, Italy; (AL) San Giuseppe Hospital, University Eye Clinic Milan, Italy; (AC) Department of Ophthalmology, University of Parma Parma, Italy; (MZ) Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, Foundation ''C. Besta'' Neurological Institute-IRCCS Milan, Italy; (AAS) Department of Ophthalmology, Keck School of Medicine, University of Southern California Los Angeles, CA
Subject Peripapillary Retinal Nerve Fiber; Macular Retinal Ganglion Cells; Dominant Optic Atrophy; OPA1 Mutation
Description To assess the peripapillary retinal nerve fiber and macular retinal ganglion cells (RGCs) loss in patients with dominant optic atrophy (DOA) stratified by OPA1 mutation typeThirty-seven patients from 20 pedigrees with DOA harboring heterozygous mutations in the OPA1 gene and 45 healthy subjects were enrolled.
Date 2014-03-04
Language eng
Format application/pdf
Type Text
Source 2014 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 2014: Poster Presentations
Collection Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management Copyright 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6ff704g
Setname ehsl_novel_nam
ID 183973
Reference URL https://collections.lib.utah.edu/ark:/87278/s6ff704g