June 2020
Volume 61, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2020
Photoreceptor imaging in USH2A-related non-syndromic retinitis pigmentosa and Usher Syndrome type 2A patients
Author Affiliations & Notes
  • Lesley Everett
    Ophthalmology, University of California, San Francisco, San Francisco, California, United States
  • Jessica Wong
    Ophthalmology, University of California, San Francisco, San Francisco, California, United States
  • Jenna Cava
    Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Wisconsin, United States
  • Travis Proco
    Ophthalmology, University of California, San Francisco, San Francisco, California, United States
    Ophthalmology, Francis I. Proctor Foundation, Department of Ophthalmology, University of California, San Francisco, California, United States
  • Austin Roorda
    School of Optometry and Vision Science Graduate Group, University of California, Berkeley, California, United States
  • Joseph Carroll
    Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Wisconsin, United States
  • Jacque L Duncan
    Ophthalmology, University of California, San Francisco, San Francisco, California, United States
  • Footnotes
    Commercial Relationships   Lesley Everett, None; Jessica Wong, None; Jenna Cava, None; Travis Proco, None; Austin Roorda, C.Light Technologies (I), USPTO#10,130,253 (P), USPTO#6,890,076 (P), USPTO#7,118,216 (P); Joseph Carroll, AGTC (F), MeiraGTx (F), MeiraGTx (C), OptoVue (F), Translational Imaging Innovations (I); Jacque Duncan, 4D Therapeutics (C), AGTC (C), Biogen/Nighstar Therapeutics (C), Editas Medicine (C), Eloxx (C), Foundation Fighting Blindness (S), ProQR Therapeutics (C), Sparing Vision (C), Spark Therapeutics (C), Vedere Bio (C)
  • Footnotes
    Support  Foundation Fighting Blindness, Research to Prevent Blindness, NEI R01-EY023591 and NEI U24EY029891. In addition: The source of the some of the data is the FFB Consortium, but the analyses, content and conclusions presented herein are solely the responsibility of the authors and have not been reviewed or approved by the Consortium and may not reflect the view of FFB.
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 209. doi:
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      Lesley Everett, Jessica Wong, Jenna Cava, Travis Proco, Austin Roorda, Joseph Carroll, Jacque L Duncan; Photoreceptor imaging in USH2A-related non-syndromic retinitis pigmentosa and Usher Syndrome type 2A patients. Invest. Ophthalmol. Vis. Sci. 2020;61(7):209.

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

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Abstract

Purpose : Although non-syndromic autosomal recessive retinitis pigmentosa (ARRP) and Usher syndrome type 2A (ARRP with congenital, moderate hearing loss) can both result from USH2A variants, the retinal phenotypes may differ. We used high resolution retinal imaging to ask if clinically significant differences in retinal structure exist in these patient populations.

Methods : This cross-sectional study enrolled patients with ARRP and Usher syndrome type 2A with at least 2 likely pathogenic or pathogenic USH2A variants. Eligible patients had clear media, stable fixation, visual acuity better than 20/50, and <6 diopters of myopia. 20 degree horizontal spectral domain optical coherence tomography scans through the fovea were segmented to measure outer segment (OS) and total retina (TR) thickness where cone spacing was measured. Cone structure was studied with confocal and split detector adaptive optics scanning laser ophthalmoscopy (AOSLO) in the central 5.5 degrees of the macula. Regions of interest were chosen at 1-degree intervals and cones were counted by an independent investigator. Cone spacing was compared with data from 37 age-similar normal eyes and converted to Z-scores to normalize for eccentricity-dependent changes. An exact permutation test was performed at the level of the individual patient to compare Z-scores between ARRP and Usher syndrome patients.

Results : 17 eyes of 9 ARRP patients (mean age 49±8 years) and 7 eyes of 4 Usher Syndrome patients (mean age 41 ±19 years) with at least 2 pathogenic or likely pathogenic USH2A variants were studied. Cone spacing Z-scores were correlated with OS (r = -0.78, P=0.001) and TR (r = -0.77, P=0.001) thickness. Mean cone spacing Z-scores were significantly greater than normal in Usher syndrome patients (3.60, 95% CI 2.1–5.1), but not greater than normal in ARRP patients (0.77, 95% CI 0.25–1.3). Cone spacing mean Z-scores were significantly higher in Usher syndrome compared to ARRP patients (P = 0.022).

Conclusions : Usher syndrome patients have significantly increased cone spacing compared to normal and to ARRP patients due to disease-causing USH2A variants, demonstrating retinal degeneration is more severe in Usher syndrome type 2A than ARRP. AOSLO is a valuable tool in studying the retinal structure of patients with retinal degeneration and may be helpful for prospectively studying the natural history of these diseases.

This is a 2020 ARVO Annual Meeting abstract.

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