Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.

Autor:	Parekh B; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States.; University of Michigan, Medical School, Ann Arbor, Michigan, United States., Duncan JL; University of California, San Francisco, San Francisco, California, United States., Samarakoon L; Jaeb Center for Health Research, Tampa, Florida, United States., Melia M; Jaeb Center for Health Research, Tampa, Florida, United States., Abalem MF; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States., Andrews CA; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States., Audo I; Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC1423, Paris, France., Ayala AR; Jaeb Center for Health Research, Tampa, Florida, United States., Bradley C; Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, United States., Cheetham JK; Foundation Fighting Blindness, Columbia, Maryland, United States., Dagnelie G; Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, United States., Durham TA; Foundation Fighting Blindness, Columbia, Maryland, United States., Huckfeldt RM; Massachusetts Eye and Ear Institute, Boston, Massachusetts, United States., Lacy GD; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States., Malbin B; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States.; Department of Ophthalmology, Kresge Eye Institute, Detroit, Michigan, United States., Michaelides M; Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom., Musch DC; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States.; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States., Peck-Dimit N; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States., Stingl K; University Eye Hospital, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany., Weng CY; Baylor College of Medicine, Houston, Texas, United States., Zmejkoski AZ; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States., Jayasundera KT; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States.
Jazyk:	angličtina
Zdroj:	Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Jun 03; Vol. 65 (6), pp. 5.
DOI:	10.1167/iovs.65.6.5
Abstrakt:	Purpose: The purpose of this study was to evaluate self-reported functional vision (FV) and the impact of vision loss in patients with USH2A-associated retinal degeneration using a patient-reported outcome (PRO) measure, the Michigan Retinal Degeneration Questionnaire (MRDQ), to correlate MRDQ scores with well-established visual function measurements. Design: An observational cross-sectional study (n = 93) of participants who had Usher Syndrome Type 2 (USH2, n = 55) or autosomal recessive non-syndromic retinitis pigmentosa (ARRP; n = 38) associated with biallelic variants in the USH2A gene. Methods: The study protocol was approved by all ethics boards and informed consent was obtained from each participant. Participants completed the MRDQ at the 48-month study follow-up visit. Disease duration was self-reported by participants. One-way ANOVA was used to compare subgroups (clinical diagnosis, age, disease duration, and full-field stimulus threshold [FST] Blue-Red mediation) on mean scores per domain. Spearman correlation coefficients were used to assess associations between MRDQ domains and visual/retinal function assessments. Results: Of the study sample, 58% were female participants and the median disease duration was 13 years. MRDQ domains were sensitive to differences between subgroups of clinical diagnosis, age, disease duration, and FST Blue-Red mediation. MRDQ domains correlated with static perimetry, microperimetry, full-field stimulus testing, and best-corrected visual acuity (BCVA). Conclusions: Self-reported FV measured by the MRDQ, when applied to USH2 and ARRP participants, had good distributional characteristics and correlated well with visual function tests. MRDQ adds a new dimension of understanding on vision-related functioning and establishes this PRO tool as an informative measure in evaluating USH2A outcomes.
Databáze:	MEDLINE
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