June 2020
Volume 61, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2020
Natural History of Rod and Cone Photoreceptor Dysfunction in Choroideremia
Author Affiliations & Notes
  • Kurt Scavelli
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Erin O'Neil
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Leona Serrano
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Denise J. Pearson
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Jessica Ijams Wolfing Morgan
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Albert Maguire
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Jean Bennett
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Tomas S Aleman
    Scheie Eye Institute, Philadelphia, Pennsylvania, United States
  • Footnotes
    Commercial Relationships   Kurt Scavelli, None; Erin O'Neil, None; Leona Serrano, None; Denise Pearson, None; Jessica Morgan, AGTC (F), Provisional patent, University of Pennsylvania (P), US Patent 8226236, University of Rochester (P); Albert Maguire, None; Jean Bennett, Limelight Bio (F); Tomas Aleman, None
  • Footnotes
    Support  National Institutes of Health (NEI-K12EY015398-10, NIH R01EY028601), Research to Prevent Blindness, Foundation Fighting Blindness, Hope for Vision, Macula Vision Research, the Paul and Evanina Bell Mackall Foundation Trust and The Pennsylvania Lions Sight Conservation
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 3027. doi:
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      Kurt Scavelli, Erin O'Neil, Leona Serrano, Denise J. Pearson, Jessica Ijams Wolfing Morgan, Albert Maguire, Jean Bennett, Tomas S Aleman; Natural History of Rod and Cone Photoreceptor Dysfunction in Choroideremia. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3027.

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

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Abstract

Purpose : To describe the natural history of central cone- and rod- photoreceptor dysfunction in choroideremia (CHM).

Methods : Visual thresholds determined by light-adapted (achromatic) and dark-adapted (chromatic) perimetry (Goldmann size V stimulus) in patients with CHM (n=40, ages 9 to 69 years). Sensitivities were determined every 2° along a horizontal meridian extending to 30° of eccentricity and were related with co-localized measures of photoreceptor structure by spectral domain optical coherence tomography (SD-OCT).

Results : 1120 retinal locations were evaluated excluding the blind spot (14-16° temporal field) and the fovea. Rod-mediated central sensitivities were measurable only in 17% of the locations (19 patients); when measurable, thresholds were elevated on average by at least 1.5 log units. Cone-mediated sensitivities were measurable in 81% of the locations; sensitivities were within normal limits (17% of the locations) or reduced (64% of the locations) on average by at least 0.3 log units. There was a strong relationship between rod and cone dysfunction in locations where both cone- and rod-mediated function could be ascertained. At least 0.5 -1 log unit of rod photoreceptor desensitization occurred before cone dysfunction was measurable. Locations within absolute rod scotomas often showed spared cone sensitivities and outer retinal structure. Locations with detectable rod and cone function, generally from younger patients, showed the best preserved outer retina.

Conclusions : CHM shows a severe rod photoreceptor dysfunction both in the near mid-periphery and central retina from the earliest stages. The relationships between rod and cone function suggest substantial loss of rod function occurs before cone dysfunction and that residual cones with relatively spared function can survive relatively well in this disease after total loss of rods.

This is a 2020 ARVO Annual Meeting abstract.

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