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Observational Study
. 2024 Jun 3;65(6):5.
doi: 10.1167/iovs.65.6.5.

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

Bela Parekh  1   2 , Jacque L Duncan  3 , Lassana Samarakoon  4 , Michele Melia  4 , Maria Fernanda Abalem  1 , Chris A Andrews  1 , Isabelle Audo  5   6 , Allison R Ayala  4 , Chris Bradley  7 , Janet K Cheetham  8 , Gislin Dagnelie  7 , Todd A Durham  8 , Rachel M Huckfeldt  9 , Gabrielle D Lacy  1 , Brett Malbin  1   10 , Michel Michaelides  11 , David C Musch  1   12 , Nicholas Peck-Dimit  1 , Katarina Stingl  13   14 , Christina Y Weng  15 , Alex Z Zmejkoski  1 , K Thiran Jayasundera  1 ; Foundation Fighting Blindness Clinical Consortium Investigator Group
Affiliations
Observational Study

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

Bela Parekh et al. Invest Ophthalmol Vis Sci. .

Abstract

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.

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Conflict of interest statement

Disclosure: B. Parekh, None; J.L. Duncan, Acucela (F), AGTC (F), Allergan/AbbVie (F), Biogen/NightstaRx (F), ProQR (F), PYC Therapeutics (F); participates on a DSMB or Advisory Board for NEI STEM trial (S), Spark Therapeutics Choroideremia trial (S), and AGTC X-linked retinoschisis trial (S); L. Samarakoon, None; M. Melia, None; M.F. Abalem, None; C.A. Andrews, None; I. Audo, Novartis (C), and Janssen (C); A.R. Ayala, None; C. Bradley, None; J.K. Cheetham, Allergan/AbbVie (I); G. Dagnelie, None; T.A. Durham, None; R.M. Huckfeldt, BlueRock (C), Janssen (C), Sanofi (C), Sunovion (C). Clinical trial support from Beacon Therapeutics (F), Biogen (F), Janssen (F), MeiraGTx (F), ProQR (F), and Spark Therapeutics (F); G.D. Lacy, University of Michigan (R) (as one of the MRDQ inventors and Michigan Vision-Related Anxiety Questionnaire); B. Malbin, None; M. Michaelides, MeiraGTx (C, I, O), Belite Bio (C), Saliogen (C) Mogrify (C); D.C. Musch, University of Michigan (R) (as one of the MRDQ inventors); N. Peck-Dimit, None; K. Stingl, Novartis (C), ProQR (C), ViGeneron (C), Santen (C), Janssen (C) with all fees paid to Center for Ophthalmology, University of Tuebingen to support research; C.Y. Weng, Alcon (C), Alimera Sciences (C), Regeneron (C), Allergan/AbbVie (C), Novartis (C), REGENXBIO (C), Opthea (C), DORC (C), Genentech (C), Iveric Bio (C), EyePoint (C), Apellis (C), AGTC (F), DRCR Retina Network (F), Alimera Sciences (F); Springer Publishers (R), Women in Ophthalmology (S), American Society of Cataract & Refractive Surgery (S), American Society of Retina Specialists (S), Macula Society (S); A.Z. Zmejkoski, None; K.T. Jayasundera, University of Michigan (R) (as one of the MRDQ inventors)

Figures

Figure 1.
Figure 1.
Flowchart of participants.
Figure 2.
Figure 2.
Distribution of MRDQ scores by clinical diagnosis groups (USH2 n = 57 and ARRP n = 38).
Figure 3.
Figure 3.
Distribution of MRDQ scores by FST Blue-Red mediated groups (Rod n = 19, Mixed n = 13, and Cone n = 32).
See this image and copyright information in PMC

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