June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Visual function in autosomal dominant optic atrophy in relation to birth parameters
Author Affiliations & Notes
  • Christina Eckmann-Hansen
    Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
    Department of Health and Medical Sciences, Kobenhavns Universitet Sundhedsvidenskabelige Fakultet, Copenhagen, Denmark
  • Toke Bek
    Department of Ophthalmology, Aarhus Universitetshospital, Aarhus, Denmark
  • Birgit Sander
    Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
  • Michael Larsen
    Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark
    Department of Health and Medical Sciences, Kobenhavns Universitet Sundhedsvidenskabelige Fakultet, Copenhagen, Denmark
  • Footnotes
    Commercial Relationships   Christina Eckmann-Hansen None; Toke Bek None; Birgit Sander None; Michael Larsen Stoke Therapeutics, Code C (Consultant/Contractor)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 4126. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Christina Eckmann-Hansen, Toke Bek, Birgit Sander, Michael Larsen; Visual function in autosomal dominant optic atrophy in relation to birth parameters. Invest. Ophthalmol. Vis. Sci. 2023;64(8):4126.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : Autosomal dominant optic atrophy (ADOA) caused by OPA1 defects has highly variable expressivity. The retinal ganglion cell population undergoes pruning during early development of the eye. We hypothesized that the mitochondrial defect in ADOA might influence this process which might be modulated by fetal stress and anoxia during delivery. In this study we examined visual function and the volume of retinal ganglion cell and nerve fiber layers in OPA1 ADOA in relation to birth parameters.

Methods : The study included 142 participants (72 males, 70 females) with OPA1 ADOA with a mean age of 43 (SD ±19.7) years. Visual acuity (VA) in ETDRS letters and nerve fiber layer (NFL) volume and ganglion cell layer (GCL) volume measured with Heidelberg Spectralis optical coherence tomography were outcome measurements. Descriptive parameters included retrospective data of birth weight, birth complications and APGAR score five minutes after delivery. Mixed modelling with family as a random effect was conducted in RStudio.

Results : Mean best-corrected VA was 58 ETDRS letters (SD ±20, range 3-99 letters), decreasing with age by 0.3 letters per year (p=0.002). Mean NFL volume was 0.6 µm3 (SD ±0.1, range 0.4-1.0), decreasing with age by 0.00009 µm3 per year (p=0.9). Mean GCL volume was 0.6 µm3 (SD ±0.1, range 0.4-1.0), decreasing with age by 0.003 µm3 per year (p<0.001). The analysis excluding descriptive parameters with small numbers of observations yielded the following nominal outputs; higher birthweight showed lower VA (-0.01 letters/100 gram, p=0.9), lower NFL volume (-0.00004 µm3/100 gram, p=0.9) and lower GCL volume (-0.001 µm3/100 gram, p=0.5). Birth complications showed lower VA (-2.06 letters, p=0.7), lower NFL volume (-0.01 µm3, p=0.8) and lower GCL volume (-0.03 µm3, p=0.6). Higher APGAR score showed higher VA (0.9 letters/point, p=0.8), higher NFL volume (0.04 µm3/point, p=0.3) and higher GCL volume (0.002 µm3/point, p=0.9).

Conclusions : No association with any single birth quality parameter reached a statistically significant effect (p<0.05). The trends do not suggest that the outcome was caused by the limited size of the study. An effect of genetic heterogeneity cannot be excluded. We propose, however, to include prenatal data in future prospective natural history studies in families, the reason being that a large proportion of visual loss in OPA1 ADOA can be seen to have occurred during early childhood.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×