June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Cone structure and function in RPGR- and USH2A-associated retinal degenerations
Paul S Micevych; Jessica Wong; Hao Zhou; Ruikang K Wang; Travis Porco; Austin Roorda; Jacque L Duncan
Author Affiliations & Notes
  • Paul S Micevych
    Department of Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • Jessica Wong
    Department of Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • Hao Zhou
    Department of Bioengineering, University of Washington, Seattle, Washington, United States
  • Ruikang K Wang
    Department of Bioengineering, University of Washington, Seattle, Washington, United States
  • Travis Porco
    Francis I. Proctor Foundation, Department of Ophthalmology, University of California San Francisco, San Francisco, California, United States
    Department of Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • Austin Roorda
    Herbert Wertheim School of Optometry & Vision Science, 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   Paul Micevych None; Jessica Wong None; Hao Zhou None; Ruikang Wang Carl Zeiss Meditec, Code C (Consultant/Contractor), Carl Zeiss Meditec, Code F (Financial Support), Carl Zeiss Meditec, Code P (Patent); Travis Porco None; Austin Roorda C.Light Technologies, Code I (Personal Financial Interest), USPTO#7,118,216, USPTO#6,890,076 (University of Rochester, University of Houston), , Code P (Patent); Jacque Duncan AGTC, California Institute for Regenerative Medicine, DTx Therapeutics, Editas Medicine, Foundation Fighting Blindness, Gyroscope Therapeutics, ProQR Therapeutics, PYC Therapeutics, SparingVision, Spark Therapeutics, Vedere Bio II, Code C (Consultant/Contractor), Foundation Fighting Blindness, Neurotech USA, Inc, Code S (non-remunerative)
  • Footnotes
    Support  This research was supported, in part, by the Foundation Fighting Blindness, UCSF Vision Core NIH/NEI P30 EY002162, NIH/NEI Bioengineering Research Partnership R01EY023591, and by an unrestricted grant from Research to Prevent Blindness, New York, NY; Foundation Fighting Blindness Program Project Award 0617-0708, Biogen/NightstaRx Therapeutics
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 4530 – F0317. doi:
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      Paul S Micevych, Jessica Wong, Hao Zhou, Ruikang K Wang, Travis Porco, Austin Roorda, Jacque L Duncan; Cone structure and function in RPGR- and USH2A-associated retinal degenerations. Invest. Ophthalmol. Vis. Sci. 2022;63(7):4530 – F0317.

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Abstract

Purpose : Variants in genes whose products are expressed at the photoreceptor connecting cilium, including RPGR and USH2A, are common causes of rod-cone degeneration. We compared cone structure and function between RPGR- and USH2A-associated retinal degenerations.

Methods : This single-center, cross-sectional study included 13 eyes (9 subjects) with RPGR-related X-linked retinitis pigmentosa (RPGR), 16 eyes (9 subjects) with USH2A-related autosomal recessive retinitis pigmentosa (ARRP), 15 eyes (10 subjects) with USH2A-related Usher syndrome type 2 (USH2), and 5 healthy eyes (4 subjects). Structural measures included cone density from adaptive optics scanning laser ophthalmoscopy (AOSLO) and photoreceptor inner segment (IS), outer segment (OS) and outer nuclear layer (ONL) thickness from optical coherence tomography (OCT) images. Cone function was assessed by macular integrity assessment (MAIA) microperimetry. OCT angiography (OCTA) images were used to study choriocapillaris flow deficit percent (CCFD%), using the area ratio of flow deficits greater than one mean standard deviation from a normal database. Measures were compared at designated regions (Figure 1) through ANOVA with pairwise comparisons among disease groups, adjusted for disease duration and region eccentricity.

Results : Comparisons to healthy eyes revealed lower cone density in RPGR and USH2 (p=0.02, p=0.04), shorter OS in RPGR and USH2 (p=0.0001, p=0.047), shorter IS in RPGR (p=0.004), thinner ONL in RPGR (p=0.008), and reduced macular sensitivity in RPGR, USH2, and ARRP (p=0.008, p=0.0498, p=0.04). OS were shorter in RPGR than either USH2 (-16.8 μm, p=0.01) or ARRP (-21.2 μm, p=0.001; Figure 2). IS were shorter in RPGR than USH2 (p=0.03). ONL was thinner in RPGR than either USH2 (p=0.03) or ARRP (p=0.03). Mean CCFD% was greater in RPGR than USH2 (p=0.02).

Conclusions : Differences in outer retinal thickness and CCFD% reveal more advanced structural and vascular alteration in RPGR than USH2A-related retinal degenerations. Similarities in macular sensitivity suggest comparable levels of cone dysfunction in these retinal degenerations.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

 

Figure 1. USH2 fundus photo (A) with serial overlay of OCT scan (B), OCTA choriocapillaris flow deficit map (C), MAIA sensitivity map (D), and AOSLO confocal montage (E) with regions of interest (red).
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Figure 1. USH2 fundus photo (A) with serial overlay of OCT scan (B), OCTA choriocapillaris flow deficit map (C), MAIA sensitivity map (D), and AOSLO confocal montage (E) with regions of interest (red).

Figure 1. USH2 fundus photo (A) with serial overlay of OCT scan (B), OCTA choriocapillaris flow deficit map (C), MAIA sensitivity map (D), and AOSLO confocal montage (E) with regions of interest (red).

Figure 1. USH2 fundus photo (A) with serial overlay of OCT scan (B), OCTA choriocapillaris flow deficit map (C), MAIA sensitivity map (D), and AOSLO confocal montage (E) with regions of interest (red).
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Figure 2. Comparisons in outer segment thickness (RPGR-USH2 p=0.01, RPGR-ARRP p=0.001, RPGR-Normal p=0.0001, USH2-Normal p=0.047).
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Figure 2. Comparisons in outer segment thickness (RPGR-USH2 p=0.01, RPGR-ARRP p=0.001, RPGR-Normal p=0.0001, USH2-Normal p=0.047).

Figure 2. Comparisons in outer segment thickness (RPGR-USH2 p=0.01, RPGR-ARRP p=0.001, RPGR-Normal p=0.0001, USH2-Normal p=0.047).

Figure 2. Comparisons in outer segment thickness (RPGR-USH2 p=0.01, RPGR-ARRP p=0.001, RPGR-Normal p=0.0001, USH2-Normal p=0.047).
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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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Copyright © 2025 Association for Research in Vision and Ophthalmology.
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