June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Patient-reported visual functioning in persons with bi-allelic USH2A variants
Author Affiliations & Notes
  • Elise Heon
    Ophthalmology and Visions Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
    University of Toronto, Toronto, Ontario, Canada
  • B. Michele Melia
    Jaeb Centre for Health Research, Tampa, Florida, United States
  • Laura E Bocchino
    Jaeb Centre for Health Research, Tampa, Florida, United States
  • Jacque L Duncan
    University of California San Francisco, San Francisco, California, United States
  • Allison Ayala
    Jaeb Centre for Health Research, Tampa, Florida, United States
  • Chris Bradley
    Johns Hopkins Medicine Wilmer Eye Institute, Baltimore, Maryland, United States
  • Isabelle Audo
    Institut de la vision, Paris, Île-de-France, France
    Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, Île-de-France, France
  • Janet K Cheetham
    Foundation Fighting Blindness Inc, Columbia, Maryland, United States
  • Gislin Dagnelie
    Johns Hopkins Medicine Wilmer Eye Institute, Baltimore, Maryland, United States
  • Todd Durham
    Foundation Fighting Blindness Inc, Columbia, Maryland, United States
  • Carel Hoyng
    Radboudumc, Nijmegen, Gelderland, Netherlands
  • Nieraj Jain
    Emory Eye Center, Atlanta, Georgia, United States
  • Thiran Jayasundera
    Kellogg Eye Center, University of Michigan Michigan Medicine, Ann Arbor, Michigan, United States
  • Mark E Pennesi
    Oregon Health & Science University, Portland, Oregon, United States
  • Christina Y Weng
    Baylor College of Medicine, Houston, Texas, United States
  • Footnotes
    Commercial Relationships   Elise Heon, Deep Genomics (S), Janssen (C), Novartis (R), Novartis (C); B. Melia, None; Laura Bocchino, None; Jacque Duncan, 4D Therapeutics (C), Acucela (F), AGTC (C), Allergan/Abbvie (F), Astellas (C), Biogen/Nightstarx Therapeutics (F), DTx Therapeutics (C), Editas (C), Eloxx (C), Eyevensys (C), Gyroscope (C), Horama (C), Neurotech USA (F), ProQR Therapeutics (C), Second Sight Medical Products (F), Sparing Vision (C), Spark Therapeutics (C), Spouse- RxSight (F), Vedere Bio (C); Allison Ayala, None; Chris Bradley, None; Isabelle Audo, Agence Nationale de la Recherche within the Investissements d'Avenir program [ANR-11-IDEX-0004-0] (F), Biogen (C), Gamut Tx (C), IHU FOReSIGHT [ANR-18-IAHU-0001] (F), LABEX LIFESENSES [reference ANR-10-LABX-65] (F), MeiraGTX (C), Novartis (C), Retina France (F), Roche (C); Janet Cheetham, Abbvie (I); Gislin Dagnelie, None; Todd Durham, None; Carel Hoyng, None; Nieraj Jain, None; Thiran Jayasundera, None; Mark Pennesi, Adverum (C), AGTC (C), Allergan/Editas (C), Astellas Pharmaceuticals (C), Astena (C), Biogen (C), Blue Rock (C), DTx (C), Endogena (C), Eyevensys (C), Gensight (C), Horama (C), Iveric (C), Nacuity Pharmaceuticals (C), Novartis (C), Nyan (C), Ocugen (C), Ora (C), ProQR Therapeutics (C), RegenexBio (C), Roche (C), Sanofi (C), Sparing Vision (C), Vedere (C), Viewpoint Therapeutics (C); Christina Weng, Alcon (C), Alimera Sciences (C), Allergan/Abbvie (C), DORC (C), Genentech (C), Novartis (C), Regeneron (C), Regenxbio (C)
  • Footnotes
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Investigative Ophthalmology & Visual Science June 2021, Vol.62, 3541. doi:
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    • Get Citation

      Elise Heon, B. Michele Melia, Laura E Bocchino, Jacque L Duncan, Allison Ayala, Chris Bradley, Isabelle Audo, Janet K Cheetham, Gislin Dagnelie, Todd Durham, Carel Hoyng, Nieraj Jain, Thiran Jayasundera, Mark E Pennesi, Christina Y Weng; Patient-reported visual functioning in persons with bi-allelic USH2A variants. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3541.

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

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Purpose : To describe a patient-reported visual functioning outcome (PRO) at baseline in RUSH2A participants and explore relationships between PRO, visual acuity (VA) and hill of vision (VTOT).

Methods : The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) is a multicenter, international, longitudinal natural history study of individuals with biallelic disease-causing variants in USH2A. History of hearing loss and baseline audiology exams were used to assign a clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive non-syndromic retinitis pigmentosa (ARRP). The VALVVFQ-48 was administered verbally in the local language of participants ≥18 years. ETDRS VA was measured in both eyes. VTOT was determined from full-field static perimetry in the study eye (better VA). Baseline PRO measure was calculated using the method of successive dichotomizations, a type of Rasch analysis.

Results : Median age of the 120 participants at enrollment was 41 years (range: 19 to 80); 65 (54%) were female. Clinical diagnosis was USH2 in 75 participants and ARRP in 45. Median age of onset was 16 years [IQR: 13-22] in USH2 and 32 [IQR: 20-41] in ARRP, and median duration of disease was 17 [IQR: 10-27] and 13 years [IQR: 6.8-18], respectively. Median VA was 80 letters (interquartile range (IQR): 75, 85) in the study eye and 75 letters (IQR: 69, 82) in the fellow eye, and median VTOT in the study eye was 20 dB-sr (IQR: 5.4 – 45). A wide range of PROs was seen with person measures ranging from -2.0 to 7.4 logits (median (IQR): 2.9 (1.5-3.8)). ARRP participants had similar PRO to USH2, both before (mean (95% CI): 2.8 (2.3-3.4) and 2.7 (2.3-3.2), respectively), and after adjusting for baseline differences in age, VA, duration of VA loss, and VTOT [mean (95% CI): 2.5 (2.1-3.0) and 2.9 (2.6-3.3), respectively; p=0.25]. VA and VTOT, separately, accounted for 29% and 26% of variation in PRO, respectively; (p<0.001 for each). Together, they accounted for 36% of variation in PRO.

Conclusions : Bi-allelic USH2A variants are associated with a large range of PRO using VALVVFQ-48. PRO in AARP and in USH2 were similar, despite concomitant hearing loss in USH2. VA and VTOT appear to be significant and approximately equal contributors to PRO in this population. However, these 2 measures account for less than ½ of variation in PRO.

This is a 2021 ARVO Annual Meeting abstract.


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