Macular sensitivity and fixation patterns in patients with autosomal dominant optic atrophy

Dan Med J. 2014 Sep;61(9):A4888.


Introduction: The objective of this study was to test macular sensitivity, fixation stability and fixation location using microperimetry in patients with autosomal dominant optic atrophy (ADOA) and mutation-free relatives.

Material and methods: This was a cross-sectional study of 43 patients with exon 28 (2826 delT) mutation in OPA1 (age 11.7-71.5 years, best-corrected visual acuity (BCVA) 20/24-20/13). The patients and 49 mutation-free first-degree relatives (BCVA 20/25-20/10) underwent ophthalmic examination including macular microperimetry out to 12° eccentricity with registration of fixation stability and fixation location.

Results: The average (± standard deviation) sensitivity was significantly reduced in ADOA patients compared with controls, 14.9 (± 4.4) dB versus 19.7 (± 0.4) dB (p < 0.0001). In a retinotopic projection, the largest relative sensitivity deficits in ADOA were seen in the nasal macula (13.6 (± 5.7) dB versus 19.7 (± 0.7) dB) and in the central macula (14.2 (± 5.1) dB versus 19.9 (± 0.3) dB). The average sensitivity decreased with decreasing BCVA in ADOA (p < 0.0001). Stable fixation was found in 58% of ADOA patients versus 86% of controls, and relatively unstable fixation was observed in 35% of ADOA patients versus 14% of controls. Unstable fixation was found only in ADOA, where its prevalence was 7%.

Conclusion: ADOA was associated with unstable fixation and subnormal microperimetric sensitivity, especially in the central and nasal macula where the ganglion cell deficit is most pronounced.

Funding: The study was supported by Øjenfonden, Øjenforeningen, and Synoptikfonden.

Trial registration: NCT01522638.

Publication types

  • Observational Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Case-Control Studies
  • Child
  • Cross-Sectional Studies
  • Diagnostic Techniques, Ophthalmological
  • Female
  • GTP Phosphohydrolases / genetics
  • Genetic Markers
  • Humans
  • Macula Lutea / physiopathology*
  • Male
  • Middle Aged
  • Optic Atrophy, Autosomal Dominant / genetics
  • Optic Atrophy, Autosomal Dominant / physiopathology*
  • Sequence Deletion
  • Vision Tests
  • Visual Acuity
  • Young Adult


  • Genetic Markers
  • GTP Phosphohydrolases
  • OPA1 protein, human

Associated data