Please use this identifier to cite or link to this item: https://doi.org/10.3389/fneur.2015.00005
Title: Dissociation of pupillary post-illumination responses from visual function in confirmed OPA1 c.983A > G and c.2708_2711delTTAG autosomal dominant optic atrophy
Authors: Nissen, C
Rönnbäck, C
Sander, B
Herbst, K
Milea, D 
Larsen, M
Lund-Andersen, H
Keywords: adult
age
aged
Article
autosomal dominant optic atrophy
blue light
clinical article
controlled study
female
ganglion cell inner plexiform layer thickness
gene mutation
human
illumination
intrinsically photosensitive retinal ganglion cell
male
optical coherence tomography
perimetry
photosensitivity
photostimulation
pupil reflex
pupillometry
red light
retina ganglion cell
retina inner plexiform layer
retinal nerve fiber layer thickness
stimulus response
vision
visual acuity
visual system parameters
Issue Date: 2015
Citation: Nissen, C, Rönnbäck, C, Sander, B, Herbst, K, Milea, D, Larsen, M, Lund-Andersen, H (2015). Dissociation of pupillary post-illumination responses from visual function in confirmed OPA1 c.983A > G and c.2708_2711delTTAG autosomal dominant optic atrophy. Frontiers in Neurology 6 (FEB) : 5. ScholarBank@NUS Repository. https://doi.org/10.3389/fneur.2015.00005
Rights: Attribution 4.0 International
Abstract: Purpose: To test whether the melanopsin-containing, intrinsically photosensitive retinal ganglion cells (ipRGCs), as evaluated by examination of the pupillary light reflex (PLR), are preserved in genetically confirmed autosomal dominant optic atrophy (ADOA). Method: Twenty-nine patients with either the c.983A > G (n = 14) or the c.2708_ 2711delTTAG mutation (n = 15) were examined with monochromatic pupillometry, using isoluminant (300 cd/m2), red (660 nm) or blue (470 nm) light, optical coherence tomography, automated visual field analysis, and with determination of best corrected visual acuity (BCVA). Since we examined two different mutations, initially we compared all outcome variables between the two, and finding no statistically significant difference, pooled them. Results: Despite a poor BCVA (56 letters, ETDRS) in the ADOA patients, their post-illuminatory pupil responses did not differ significantly from those of healthy controls (blue, p = 0.45, red, p = 0.49, t-test), and no statistically significant effect was noted of peripapillary retinal nerve fiber layer thickness, ganglion cell-inner plexiform layer thickness, or age. Conclusion: The PLR to blue light of high luminance (300 cd/m2) was preserved in both c.983A > G and c.2708_2711delTTAG ADOA despite severe visual loss and optic nerve atrophy. The study confirms, in a large sample of two genetically homogenous groups, that the ipRGCs are spared in ADOA. © 2015 Nissen, Rönnbäck, Sander, Herbst, Milea, Larsen and Lund-Andersen.
Source Title: Frontiers in Neurology
URI: https://scholarbank.nus.edu.sg/handle/10635/180958
ISSN: 16642295
DOI: 10.3389/fneur.2015.00005
Rights: Attribution 4.0 International
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