title: Dissociation of Pupillary Post-Illumination Responses from Visual Function in Confirmed OPA1 c.983A > G and c.2708_2711delTTAG Autosomal Dominant Optic Atrophy.
abstract: OBJECTIVE
  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).
  
  
  METHODS
  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/m(2)), 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.
  
  
  CONCLUSIONS
  The PLR to blue light of high luminance (300 cd/m(2)) 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.
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark.
authors.forename: Claus
authors.initials: C
authors.lastname: Nissen
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Rönnbäck
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark.
authors.forename: Birgit
authors.initials: B
authors.lastname: Sander
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark.
authors.forename: Kristina
authors.initials: K
authors.lastname: Herbst
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark ; Singapore National Eye Centre, Singapore Eye Research Institute, Duke-NUS Graduate Medical School Singapore , Singapore , Singapore ; Angers University Hospital , Angers , France.
authors.forename: Dan
authors.initials: D
authors.lastname: Milea
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark.
authors.forename: Michael
authors.initials: M
authors.lastname: Larsen
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen , Copenhagen , Denmark.
authors.forename: Henrik
authors.initials: H
authors.lastname: Lund-Andersen
keywords: autosomal dominant optic atrophy; intrinsically photosensitive retinal ganglion cells; ipRGC; melanopsin; pupillary light reflex