April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Full-field luminance thresholds, light discomfort thresholds, and pupillary light responses in CEP290 Leber congenital amaurosis patients.
Author Affiliations & Notes
  • Frederick T Collison
    The Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, IL
  • Jason C Park
    Department of Ophthalmology, University of Illinois at Chicago, Chicago, IL
  • J Jason McAnany
    Department of Ophthalmology, University of Illinois at Chicago, Chicago, IL
  • Gerald A Fishman
    The Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, IL
    Department of Ophthalmology, University of Illinois at Chicago, Chicago, IL
  • Footnotes
    Commercial Relationships Frederick Collison, None; Jason Park, None; J Jason McAnany, None; Gerald Fishman, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 1421. doi:
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    • Get Citation

      Frederick T Collison, Jason C Park, J Jason McAnany, Gerald A Fishman; Full-field luminance thresholds, light discomfort thresholds, and pupillary light responses in CEP290 Leber congenital amaurosis patients.. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1421.

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

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Abstract

Purpose: To investigate full field visual function and pupillary responses in patients with non-syndromic CEP290 Leber congenital amaurosis (LCA-CEP290), using three tests that can be performed by patients with poor fixation.

Methods: Five patients (ages 9, 24, 31, 39 and 36 years) with LCA-CEP290 participated in the study. Stimuli for all three tests (the full-field stimulus test [FST], pupillometry, and light discomfort threshold testing) were generated by the Diagnosys ColorDome ganzfeld, utilizing long- and short-wavelength stimuli. Both eyes of all five patients were tested with the FST, a measure of luminance threshold. The pupillary light reflex (PLR) was measured from all five subjects in one eye with 1-second duration stimuli, using a published method that targets rod, cone, and melanopsin function. The four older patients were tested for dark-adapted light discomfort thresholds. The light discomfort test utilized a 2-second stimulus that was increased in luminance step-wise from -0.9 to 3.6 log cd/m2 in 0.3-log intervals. Subjects terminated the test when they found the stimulus to be "uncomfortable."

Results: FST thresholds were cone-mediated and elevated between 6 and 7 log units from the normal dark adapted short-wavelength threshold in patients 1-4. FST threshold was non-measurable in Patient 5, who had inconsistent bare light perception. PLR results were inconclusive in the youngest patient (patient 1) due to pupillary fluctuations during testing. The rod-mediated PLR was absent in patients 2-5. The cone-mediated PLRs were borderline abnormal in patients 2-4, and absent in patient 5. The melanopsin-mediated PLRs were measurable in patients 2-5. Subjects 2-4 all were found to have light discomfort thresholds that were lower to short-wavelength stimuli versus long-wavelength stimuli.

Conclusions: Our FST findings of cone-mediated responses are consistent with a published study that showed most LCA-CEP290 patients have either cone-mediated or mixed (rod and cone-mediated) FST thresholds. To our knowledge, this is the first report of pupillometry and light discomfort threshold testing in LCA-CEP290. Light-discomfort thresholds that are lower to short wavelength light suggest the influence of melanopsin on light discomfort in these patients with no detectable rod responses on FST and pupillometry testing.

Keywords: 696 retinal degenerations: hereditary • 668 pupillary reflex  
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