Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

Jacque L Duncan; Wendi Liang; Maureen G Maguire; Isabelle Audo; Allison R Ayala; David G Birch; Joseph Carroll; Janet K Cheetham; Simona Degli Esposti; Todd A Durham; Laura Erker; Sina Farsiu; Frederick L Ferris 3rd; Elise Heon; Robert B Hufnagel; Alessandro Iannaccone; Glenn J Jaffe; Christine N Kay; Michel Michaelides; Mark E Pennesi; José-Alain Sahel; Foundation Fighting Blindness Consortium Investigator Group

doi:10.1016/j.ajo.2020.05.024

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

Am J Ophthalmol. 2020 Nov:219:87-100. doi: 10.1016/j.ajo.2020.05.024. Epub 2020 May 22.

Authors

Jacque L Duncan¹, Wendi Liang², Maureen G Maguire³, Isabelle Audo⁴, Allison R Ayala⁵, David G Birch⁶, Joseph Carroll⁷, Janet K Cheetham⁸, Simona Degli Esposti⁹, Todd A Durham⁸, Laura Erker¹⁰, Sina Farsiu¹¹, Frederick L Ferris 3rd¹², Elise Heon¹³, Robert B Hufnagel¹⁴, Alessandro Iannaccone¹¹, Glenn J Jaffe¹¹, Christine N Kay¹⁵, Michel Michaelides⁹, Mark E Pennesi¹⁰, José-Alain Sahel¹⁶; Foundation Fighting Blindness Consortium Investigator Group

Affiliations

¹ University of California, San Francisco, San Francisco, CA, USA.
² Jaeb Center for Health Research, Tampa, FL, USA.
³ University of Pennsylvania, Philadelphia, PA, USA.
⁴ Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France.
⁵ Jaeb Center for Health Research, Tampa, FL, USA. Electronic address: ffbcorrespauth@jaeb.org.
⁶ Retina Foundation of the Southwest, Dallas, TX, USA.
⁷ Medical College of Wisconsin Eye Institute, Milwaukee, WI, USA.
⁸ Foundation Fighting Blindness, Columbia, MD, USA.
⁹ Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.
¹⁰ Casey Eye Institute-Oregon Health & Science University, Portland, OR, USA.
¹¹ Department of Ophthalmology, Duke University, Durham, NC, USA.
¹² Ophthalmic Research Consultants, Waxhaw, NC, USA.
¹³ Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada.
¹⁴ National Eye Institute, Bethesda, MD, USA.
¹⁵ Vitreoretinal Associates, Gainesville, FL, USA.
¹⁶ Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Abstract

Purpose: To report baseline visual fields in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) study.

Design: Cross-sectional study within a natural history study.

Methods: Setting: multicenter, international.

Study population: Usher syndrome type 2 (USH2) (n = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) (n = 47) associated with biallelic disease-causing sequence variants in USH2A.

Observation procedures: Repeatability of full-field static perimetry (SP) and between-eye symmetry of kinetic perimetry (KP) were evaluated with intraclass correlation coefficients (ICCs). The association of demographic and clinical characteristics with total hill of vision (V_TOT) was assessed with general linear models. Associations between V_TOT and other functional and morphologic measures were assessed using Spearman correlation coefficients and t tests.

Main outcome measures: V_TOT (SP) and III4e isopter area (KP).

Results: USH2 participants had more severe visual field loss than ARRP participants (P < .001, adjusting for disease duration, age of enrollment). Mean V_TOT measures among 3 repeat tests were 32.7 ± 24.1, 31.2 ± 23.4, and 31.7 ± 23.9 decibel-steradians (intraclass correlation coefficient [ICC] = 0.96). Better VA, greater photopic ERG 30-Hz flicker amplitudes, higher mean microperimetry sensitivity, higher central subfield thickness, absence of macular cysts, and higher III4e seeing area were associated with higher V_TOT (all r > .48; P < .05). Mean III4e isopter areas for left (4561 ± 4426 squared degrees) and right eyes (4215 ± 4300 squared degrees) were concordant (ICC = 0.94).

Conclusions: USH2 participants had more visual field loss than participants with USH2A-related ARRP, adjusting for duration of disease and age of enrollment. V_TOT was repeatable and correlated with other functional and structural metrics, suggesting it may be a good summary measure of disease severity in patients with USH2A-related retinal degeneration.

Publication types

Multicenter Study
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cross-Sectional Studies
Disease Progression
Electroretinography
Extracellular Matrix Proteins / genetics*
Female
Humans
Longitudinal Studies
Male
Middle Aged
Research Design
Retina / physiopathology
Retinitis Pigmentosa / diagnosis*
Retinitis Pigmentosa / genetics
Retinitis Pigmentosa / physiopathology
Severity of Illness Index
Usher Syndromes / diagnosis*
Usher Syndromes / genetics
Usher Syndromes / physiopathology
Vision Disorders / diagnosis*
Vision Disorders / physiopathology
Visual Acuity / physiology
Visual Field Tests
Visual Fields / physiology*

Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

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