title: Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy.
abstract: OBJECTIVE
  Optical coherence tomography (OCT) enables 3-dimensional imaging of the retina, including the layer of ganglion cells that supplies the optic nerve with its axons. We tested OCT as means of diagnosing and phenotyping autosomal-dominant optic atrophy (ADOA).
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  The study included 49 patients with OPA1 exon 28 (2826delT) ADOA (age, 8.6-71.5 years; best-corrected visual acuity [BCVA], 20/700-20/20) and 51 mutation-free first-degree relatives as healthy controls (BCVA 20/25-20/10).
  
  
  METHODS
  Participants underwent routine examination, including automated perimetry, and OCT with segmentation of the perifoveal retinal ganglion cell-inner plexiform layer (GC-IPL) and the peripapillary retinal nerve fiber layer (RNFL).
  
  
  METHODS
  Perifoveal GC-IPL thickness.
  
  
  RESULTS
  All subjects with ADOA had a thinner GC-IPL in the inferonasal macula than the thinnest healthy control. The GC-IPL thickness was also subnormal in the superotemporal macula (P<0.0001), where it varied with visual acuity (P ≤ 0.03). Attenuation of the peripapillary nerve fiber layer was prominent on the temporal side of the optic disc in ADOA (P <0.0001), but there was considerable overlap with healthy controls. In ADOA, there was no detectable variation with age in BCVA, autoperimetry mean deviation, GC-IPL thickness, or RNFL thickness, except that the thickness of the superior RNFL quadrant decreased with age.
  
  
  CONCLUSIONS
  Optical coherence tomography enabled a highly sensitive diagnosis of ADOA and identification of a structural correlate with the variation in visual acuity. The defect associated with the OPA1 exon 28 (2826delT) seems to be fully developed from early childhood or the perinatal period.
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Electronic address: elisabeth.cecilia.roennbaeck@regionh.dk.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Rönnbäck
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Dan
authors.initials: D
authors.lastname: Milea
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; National Eye Clinic, Kennedy Center, Glostrup, Denmark.
authors.forename: Michael
authors.initials: M
authors.lastname: Larsen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003430:Cross-Sectional Studies; D005091:Exons / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000473:pathology*; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D012165:Retinal Ganglion Cells / Q000473:pathology*; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human