The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.

Abstract

Purpose

The purpose of this study was to evaluate baseline best corrected visual acuity (BCVA), full-field electroretinography (ERG), full-field stimulus thresholds (FST), and their relationship with baseline demographic and clinical characteristics in the Rate of Progression in Usher syndrome type 2 (USH2A)-related Retinal Degeneration (RUSH2A) multicenter study.

Methods

Participants had Usher syndrome type 2 (USH2, N = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP, N = 47) associated with biallelic variants in the USH2A gene. Associations of demographic and clinical characteristics with BCVA, ERG, and FST were assessed with regression models.

Results

In comparison to ARRP, USH2 had worse BCVA (median 79 vs. 82 letters; P < 0.001 adjusted for age), lower rod-mediated ERG b-wave amplitudes (median 0.0 vs. 6.6 µV; P < 0.001) and 30 Hz flicker cone-mediated ERG amplitudes (median 1.5 vs. 3.1 µV; P = 0.001), and higher (white, blue, and red) FST thresholds (means [-26, -31, -23 dB] vs. [-39, -45, -28 dB]; P < 0.001 for all stimuli). After adjusting for age, gender, and duration of vision loss, the difference in BCVA between diagnosis groups was attenuated (P = 0.09). Only diagnosis was associated with rod- and cone-mediated ERG parameters, whereas both genders (P = 0.04) and duration of visual loss (P < 0.001) also were associated with FST white stimulus.

Conclusions

USH2 participants had worse BCVA, ERG, and FST than ARRP participants. FST was strongly associated with duration of disease; it remains to be determined whether it will be a sensitive measure of progression.

Translational relevance

Using standardized research protocols in RUSH2A, measures have been identified to monitor disease progression and treatment response and differentiate features of prognostic relevance between USH2 and ARRP participants with USH2A mutations.

Department

Description

Provenance

Citation

Published Version (Please cite this version)

10.1167/tvst.9.11.9

Publication Info

Birch, David G, Peiyao Cheng, Jacque L Duncan, Allison R Ayala, Maureen G Maguire, Isabelle Audo, Janet K Cheetham, Todd A Durham, et al. (2020). The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Translational vision science & technology, 9(11). p. 9. 10.1167/tvst.9.11.9 Retrieved from https://hdl.handle.net/10161/23894.

This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.

Scholars@Duke

Lad

Eleonora Georgeta Lad

Professor of Ophthalmology

Eleonora (Nora) Lad, MD, PhD is a clinician scientist and retinal ophthalmologist with the primary goal of developing novel strategies for early diagnosis and treatment of age-related macular degeneration (AMD).

Dr. Lad specializes in the diagnosis and treatment of macular diseases, such as AMD, diabetic retinopathy, and retinal vascular diseases. She is involved in clinical trials and innovative therapies for the treatment of macular diseases. Dr. Lad is committed to providing the highest level of evidence-based patient care.

Dr. Lad’s career goal is to translate her doctoral training in neuroscience into developing innovative diagnostic and therapeutic approaches for AMD. Her research interests are the following:
1) investigating the role of neuroinflammation and abnormal protein aggregates in the pathogenesis of AMD and developing relevant treatments
2) visual function testing in dry AMD with the goal of establishing functional endpoints for future clinical studies in early AMD
3) elucidating the use of novel retinal imaging biomarkers for early diagnosis of aging diseases (AMD and Alzheimer’s disease), including through the use of artificial intelligence (machine and deep learning).  On these studies, she is collaborating with an interdisciplinary team of investigators from Ophthalmology, Geriatrics, Computer Engineering, Biomedical Engineering, Neurology and Alzheimer’s Disease Research Center.

Dr. Lad is the recipient of the VA Merit Award I01, Patient-Oriented Research Career Development (K23) Award from the National Eye Institute, the 2016 Research to Prevent Blindness Ernest & Elizabeth Althouse Special Scholar Award, the 2016 ARVO/Alcon Early Career Clinician-Scientist Research Award, Heed Foundation award, and Duke Institute for Brain Sciences incubator award, among others. She is a member of the Macula Society, Retina Society, American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, International Society for Eye Research, Society of Heed Fellows, Society for Neuroscience and American Society for Neural Therapy and Repair.


Unless otherwise indicated, scholarly articles published by Duke faculty members are made available here with a CC-BY-NC (Creative Commons Attribution Non-Commercial) license, as enabled by the Duke Open Access Policy. If you wish to use the materials in ways not already permitted under CC-BY-NC, please consult the copyright owner. Other materials are made available here through the author’s grant of a non-exclusive license to make their work openly accessible.