July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
Structure and function in retinitis pigmentosa patients with mutations in RHO vs. RPGR
Author Affiliations & Notes
  • Katharina G Foote
    School of Optometry and Vision Science Graduate Group, University of California, Berkeley, Berkeley, California, United States
    Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States
  • Jessica J. Wong
    Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States
  • Alexandra E. Boehm
    School of Optometry and Vision Science Graduate Group, University of California, Berkeley, Berkeley, California, United States
  • Ethan Bensinger
    School of Optometry and Vision Science Graduate Group, University of California, Berkeley, Berkeley, California, United States
  • Travis C Porco
    Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States
    Department of Ophthalmology, Francis I. Proctor Foundation, San Francisco, California, United States
  • Austin Roorda
    School of Optometry and Vision Science Graduate Group, University of California, Berkeley, Berkeley, California, United States
  • Jacque L Duncan
    Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States
  • Footnotes
    Commercial Relationships   Katharina Foote, Carl Zeiss Meditec, Inc. (C); Jessica Wong, None; Alexandra Boehm, None; Ethan Bensinger, C.Light Technologies (C); Travis Porco, None; Austin Roorda, C.Light Technologies (I), USPTO#7,118,216, USPTO#6,890,076 (University of Rochester, University of Houston) (P); Jacque Duncan, AGTC (C), Editas Medicine (C), Ionis Pharmaceuticals (C), Neurotech USA, Inc (S), Novelion Therapeutics (C), ProQR Therapeutics (C), SparingVision (C), Spark Therapeutics (C)
  • Footnotes
    Support  NIH grant EY023591; NIH-P30 grant EY002162; FDA grant R01-41001; Foundation Fighting Blindness; Research to Prevent Blindness Nelson Trust Award for Retinitis Pigmentosa and Unrestricted Funds; Claire Giannini Foundation; That Man May See, Inc.; NIH Training Grant T32EY007043; Minnie Flaura Turner Memorial Fund for Impaired Vision Research Award; American Academy of Optometry Foundation Michael G. Harris Ezell Fellowship
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 5169. doi:
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    • Get Citation

      Katharina G Foote, Jessica J. Wong, Alexandra E. Boehm, Ethan Bensinger, Travis C Porco, Austin Roorda, Jacque L Duncan; Structure and function in retinitis pigmentosa patients with mutations in RHO vs. RPGR. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5169.

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

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Abstract

Purpose : Retinitis pigmentosa (RP) causes death of rod, then cone photoreceptors. We measured cone structure and function with high-resolution in patients with mutations in rhodopsin (RHO), expressed only in rods, and patients with mutations in RPGR, expressed in both rods and cones.

Methods : 8 RP patients (3 eyes with RHO mutations and 5 with RPGR mutations, mean age 32.5 ± 7.7 years) and 2 normal subjects (mean age 24.3 ± 1.7 years) were recruited for the study. Cone structure was studied with confocal and split detector adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain OCT. Cone function was measured with microperimetry using (i) fundus guided Scotopic-Macular Integrity Assessment (S-MAIA), performed in dark adapted conditions with a red (627 nm) stimulus (26 arcmin) and (ii) AOSLO microperimetry (AOMP) with a green (543 nm) stimulus (3.45 arcmin). Both systems were used to measure sensitivity of cone function at 1 deg intervals from fixation into the temporal retina. Cone density was measured as close as possible to each test location and the ratio of cone sensitivity to cone density was computed. Wilcoxon rank sum tests were used to compare this ratio between normal, RHO and RPGR patients.

Results : AOMP sensitivity/density ratios revealed RHO vs. RPGR to be significantly different from each other (P=0.003), and different from normal (normal vs. RHO P=0.034 and normal vs. RPGR P<0.001); sensitivity/cone was lowest in RPGR patients. Similarly, S-MAIA sensitivity/density was significantly lower in RHO and RPGR patients compared to normal (normal vs. RHO P=0.009 and normal vs. RPGR P<0.001), but RHO and RPGR patients were not significantly different from each other (P=0.11).

Conclusions : Normal subjects showed significantly greater sensitivity per cone compared with RP patients with RHO mutations, while sensitivity was even lower in patients with RPGR mutations. S-MAIA sensitivity/cone was also significantly lower in RP patients than normal, although results in patients with RHO and RPGR mutations were not significantly different. Cones in patients with RHO mutations retain better sensitivity than in patients with RPGR mutations, perhaps because cones express RPGR and degenerate primarily, while cones in eyes with RHO mutations die secondary to rod degeneration. High-resolution microperimetry can provide insight into mechanisms of cone degeneration in patients with different forms of RP.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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