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

Authors
  • Barboni, Piero1
  • Savini, Giacomo2
  • Cascavilla, Maria Lucia3
  • Caporali, Leonardo4
  • Milesi, Jacopo3
  • Borrelli, Enrico3
  • La Morgia, Chiara5
  • Valentino, Maria Lucia5
  • Triolo, Giacinto3
  • Lembo, Andrea6
  • Carta, Arturo7
  • De Negri, Annamaria8
  • Sadun, Federico9
  • Rizzo, Giovanni5
  • Parisi, Vincenzo2
  • Pierro, Luisa3
  • Bianchi Marzoli, Stefania10
  • Zeviani, Massimo11
  • Sadun, Alfredo A12
  • Bandello, Francesco3
  • And 1 more
  • 1 Scientific Institute San Raffaele, Milan, Italy; Studio Oculistico d'Azeglio, Bologna, Italy. Electronic address: [email protected] , (Italy)
  • 2 Giovanni Battista Bietti Foundation, Rome, Italy. , (Italy)
  • 3 Scientific Institute San Raffaele, Milan, Italy. , (Italy)
  • 4 Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. , (Italy)
  • 5 Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. , (Italy)
  • 6 San Giuseppe Hospital, University Eye Clinic, Milan, Italy. , (Italy)
  • 7 Department of Ophthalmology, University of Parma, Italy. , (Italy)
  • 8 Azienda San Camillo-Forlanini, Rome, Italy. , (Italy)
  • 9 Ospedale San Giovanni Evangelista, Tivoli, Italy. , (Italy)
  • 10 Neuro-ophthalmology Unit Department of Ophthalmology, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, Milano, Italy. , (Italy)
  • 11 Unit of Molecular Neurogenetics, Foundation C. Besta Neurological Institute, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy; Medical Research Council Mitochondrial Biology Unit, Cambridge, UK. , (Italy)
  • 12 Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Type
Published Article
Journal
American journal of ophthalmology
Publication Date
September 2014
Volume
158
Issue
3
Identifiers
DOI: 10.1016/j.ajo.2014.05.034
PMID: 24907432
Source
Medline
License
Unknown

Abstract

The present study demonstrates that in DOA, loss of macular RGCs is the earliest pathologic event, better reflected by GC-IPL measurements, whereas RNFL thickness is a measure of spared axons in late stages of the disease. Thus, mild cases (DOA2) show significant macular RGC loss as opposed to substantial maintenance of RNFL thickness, which is significantly decreased only in severe cases (DOA4). A clear genotype/phenotype correlation emerged, stratifying OCT measures by OPA1 mutation type, missense mutations being the most severe.

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