title: Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age.
abstract: OBJECTIVE
  To measure the retinal nerve fiber layer (RNFL) thickness by means of optical coherence tomography (OCT) in patients with dominant optic atrophy (DOA).
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  BACKGROUND
  The author(s) have no proprietary or commercial interest in any materials discussed in this article.
authors.affiliation: Studio Oculistico d'Azeglio, Bologna, Italy. p.barboni@studiodazeglio.it
authors.forename: Piero
authors.initials: P
authors.lastname: Barboni
authors.forename: Giacomo
authors.initials: G
authors.lastname: Savini
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Parisi
authors.forename: Michele
authors.initials: M
authors.lastname: Carbonelli
authors.forename: Chiara
authors.initials: C
authors.lastname: La Morgia
authors.forename: Alessandra
authors.initials: A
authors.lastname: Maresca
authors.forename: Federico
authors.initials: F
authors.lastname: Sadun
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: De Negri
authors.forename: Arturo
authors.initials: A
authors.lastname: Carta
authors.forename: Alfredo A
authors.initials: AA
authors.lastname: Sadun
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000375:Aging / Q000473:pathology*; D002648:Child; D003430:Cross-Sectional Studies; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009412:Nerve Fibers / Q000473:pathology*; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics; D009898:Optic Disk / Q000473:pathology*; D010375:Pedigree; D012165:Retinal Ganglion Cells / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human