Retinal nerve fiber layer thickness in dominant optic atrophy: Measurements by optical coherence tomography and correlation with age

Piero Barboni, Giacomo Savini, Vincenzo Parisi, Michele Carbonelli, Chiara La Morgia, Alessandra Maresca, Federico Sadun, Anna Maria De Negri, Arturo Carta, Alfredo A. Sadun, Valerio Carelli

Research output: Contribution to journalArticle

Abstract

Purpose: To measure the retinal nerve fiber layer (RNFL) thickness by means of optical coherence tomography (OCT) in patients with dominant optic atrophy (DOA). Design: Cross-sectional study. Participants: Thirty-three patients from 15 pedigrees with DOA harboring heterozygous mutations in the OPA1 gene and 43 healthy subjects were enrolled. Methods: The RNFLs of DOA patients were studied by OCT and compared with those of 43 healthy subjects matched for age and optic nerve head (ONH) size. Main Outcome Measures: Retinal nerve fiber layer thickness. Results: Dominant optic atrophy patients revealed a significant RNFL thickness reduction in all quadrants, with a preferential involvement of the temporal and inferior sectors. The progressive decline of RNFL thickness with age was similar to that observed in healthy subjects and was more evident in the 2 quadrants with higher residual amounts of fibers, that is, the superior and the inferior. The temporal quadrant was profoundly depleted of fiber so that the further rate of loss of microns per year is close to zero, whereas the nasal quadrant was spared the most by neurodegeneration. Conclusions: The present findings, taken in conjunction with the authors' previous description of small ONH size in DOA, strongly suggest that patients with this disease are born with fewer optic nerve axons and support the hypothesis that subsequent visual loss depends on further age-related loss of fibers, which also occurs in controls. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Original languageEnglish
Pages (from-to)2076-2080
Number of pages5
JournalOphthalmology
Volume118
Issue number10
DOIs
Publication statusPublished - Oct 2011

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Autosomal Dominant Optic Atrophy
Optical Coherence Tomography
Nerve Fibers
Healthy Volunteers
Optic Disk
Disclosure
Pedigree
Optic Nerve
Nose
Axons
Cross-Sectional Studies
Outcome Assessment (Health Care)
Mutation
Genes

ASJC Scopus subject areas

  • Ophthalmology

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Retinal nerve fiber layer thickness in dominant optic atrophy : Measurements by optical coherence tomography and correlation with age. / Barboni, Piero; Savini, Giacomo; Parisi, Vincenzo; Carbonelli, Michele; La Morgia, Chiara; Maresca, Alessandra; Sadun, Federico; De Negri, Anna Maria; Carta, Arturo; Sadun, Alfredo A.; Carelli, Valerio.

In: Ophthalmology, Vol. 118, No. 10, 10.2011, p. 2076-2080.

Research output: Contribution to journalArticle

Barboni, Piero ; Savini, Giacomo ; Parisi, Vincenzo ; Carbonelli, Michele ; La Morgia, Chiara ; Maresca, Alessandra ; Sadun, Federico ; De Negri, Anna Maria ; Carta, Arturo ; Sadun, Alfredo A. ; Carelli, Valerio. / Retinal nerve fiber layer thickness in dominant optic atrophy : Measurements by optical coherence tomography and correlation with age. In: Ophthalmology. 2011 ; Vol. 118, No. 10. pp. 2076-2080.
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AU - Barboni, Piero

AU - Savini, Giacomo

AU - Parisi, Vincenzo

AU - Carbonelli, Michele

AU - La Morgia, Chiara

AU - Maresca, Alessandra

AU - Sadun, Federico

AU - De Negri, Anna Maria

AU - Carta, Arturo

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