Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years

Jacque L Duncan; Peiyao Cheng; Maureen G Maguire; Allison A Ayala; David G Birch; Janet K Cheetham; Todd A Durham; Abigail T Fahim; Carel B Hoyng; Hiroshi Ishikawa; Michel Michaelides; Mark E Pennesi; José-Alain Sahel; Katarina Stingl; Christina Y Weng; Foundation Fighting Blindness Consortium Investigator Group

doi:10.1016/j.ajo.2023.02.002

Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years

Am J Ophthalmol. 2023 Jun:250:103-110. doi: 10.1016/j.ajo.2023.02.002. Epub 2023 Feb 9.

Authors

Jacque L Duncan¹, Peiyao Cheng², Maureen G Maguire², Allison A Ayala³, David G Birch⁴, Janet K Cheetham⁵, Todd A Durham⁵, Abigail T Fahim⁶, Carel B Hoyng⁷, Hiroshi Ishikawa⁸, Michel Michaelides⁹, Mark E Pennesi⁸, José-Alain Sahel¹⁰, Katarina Stingl¹¹, Christina Y Weng¹²; Foundation Fighting Blindness Consortium Investigator Group

Affiliations

¹ From the University of California, San Francisco (J.L.D.), San Francisco, California, USA.
² Jaeb Center for Health Research (P.C., M.G.M., A.A.A.), Tampa, Florida, USA.
³ Jaeb Center for Health Research (P.C., M.G.M., A.A.A.), Tampa, Florida, USA. Electronic address: ffbcorrespauth@jaeb.org.
⁴ Retina Foundation of the Southwest (D.G.B.), Dallas, Texas, USA.
⁵ Foundation Fighting Blindness (J.K.C., T.A.D.), Columbia, Maryland, USA.
⁶ Kellogg Eye Center, University of Michigan (A.T.F.), Ann Arbor, Michigan, USA.
⁷ Radboud University Medical Center (C.B.H.), Nijmegen, the Netherlands.
⁸ Casey Eye Institute, Oregon Health & Science University (H.I., M.E.P.), Portland, Oregon, USA.
⁹ Moorfields Eye Hospital and UCL Institute of Ophthalmology (M.M.), London, United Kingdom.
¹⁰ Institut de la Vision, Sorbonne Université, INSERM, CNRS (J.A.-S.), Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423 (J.A.-S.), Paris, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
¹¹ University Eye Hospital, Center for Ophthalmology, University of Tübingen (K.S.), Tübingen, Germany; Center for Rare Eye Diseases, University of Tübingen, Tübingen (K.S.), Germany.
¹² Baylor College of Medicine (C.Y.W.), Houston, Texas, USA.

Abstract

Purpose: To evaluate disease progression using static perimetry (SP) in patients with USH2A-related retinal degeneration, including Usher syndrome type 2 (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa.

Design: Prospective, observational cohort study.

Methods: A total of 102 patients with biallelic disease-causing sequence variants in USH2A with baseline best-corrected visual acuity (BCVA) letter score ≥54 were recruited from 16 clinical sites in Europe and North America. SP, BCVA, full-field stimulus thresholds, spectral domain optical coherence tomography macular scans, and fundus-guided mesopic microperimetry were performed at baseline and annually. The main outcome measures were total hill of vision (V_TOT), hill of vision in the central 30° (V₃₀), V_TOT minus V₃₀ (V_PERIPH), and mean sensitivity.

Results: The average decline (95% CI) was 2.05 (1.40, 2.70) decibel-steradian (dB-sr)/y for V_TOT, 0.48 (0.32, 0.65) dB-sr/y for V₃₀, 1.53 (0.97, 2.08) dB-sr/y for V_PERIPH, and 0.55 (0.40, 0.71) dB/y for mean sensitivity. Average percentage decline per year was 8.3 (5.5, 11.1) for V_TOT, 5.2 (3.0, 7.4) for V₃₀, 16.0 (9.5, 22.0) for V_PERIPH, and 5.1 (3.5, 6.7) for mean sensitivity. Changes from baseline to year 2 in all SP measures were highly correlated (r's ranging from 0.52 [V₃₀ vs V_PERIPH] to 0.98 [V_TOT vs V_PERIPH]).

Conclusions: Quantitative measures of SP declined significantly over 2 years in USH2A-related retinal degeneration. The annual percentage rate of change was greatest for V_TOT and V_PERIPH, whereas V₃₀ and mean sensitivity changed least, reflecting earlier and more severe peripheral degeneration compared with central loss.

Publication types

Observational Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Extracellular Matrix Proteins / genetics
Humans
Prospective Studies
Retinal Degeneration* / diagnosis
Retinal Degeneration* / genetics
Tomography, Optical Coherence
Usher Syndromes* / diagnosis
Usher Syndromes* / genetics
Visual Acuity
Visual Field Tests / methods
Visual Fields

Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years

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