Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study
Purpose: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the USH2A-related Retinal Degeneration study and to assess their suitability as clinical trial endpoints. Design: Prospective natural history s...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-03-01
|
| Series: | Ophthalmology Science |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666914524001842 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850254253800554496 |
|---|---|
| author | David G. Birch, PhD Peiyao Cheng, PhD Maureen G. Maguire, PhD Jacque L. Duncan, MD Allison R. Ayala, MS Janet K. Cheetham, PharmD Nicole R. Doucet, MPH Todd A. Durham, PhD Abigail T. Fahim, MD, PhD Frederick L. Ferris, III, MD Rachel M. Huckfeldt, MD, PhD Michele Melia, ScM Michel Michaelides, MD (Res) Mark E. Pennesi, MD, PhD José-Alain Sahel, MD Katarina Stingl, MD Ajoy Vincent, MBBS, MS Christina Y. Weng, MD, MBA |
| author_facet | David G. Birch, PhD Peiyao Cheng, PhD Maureen G. Maguire, PhD Jacque L. Duncan, MD Allison R. Ayala, MS Janet K. Cheetham, PharmD Nicole R. Doucet, MPH Todd A. Durham, PhD Abigail T. Fahim, MD, PhD Frederick L. Ferris, III, MD Rachel M. Huckfeldt, MD, PhD Michele Melia, ScM Michel Michaelides, MD (Res) Mark E. Pennesi, MD, PhD José-Alain Sahel, MD Katarina Stingl, MD Ajoy Vincent, MBBS, MS Christina Y. Weng, MD, MBA |
| author_sort | David G. Birch, PhD |
| collection | DOAJ |
| description | Purpose: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the USH2A-related Retinal Degeneration study and to assess their suitability as clinical trial endpoints. Design: Prospective natural history study. Participants: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included. Methods: BCVA, FST, fundus-guided microperimetry, static perimetry, and spectral domain OCT were performed annually and ERG at baseline and 4 years only. Mixed effects models were used to estimate annual rates of change with 95% confidence intervals. Associations of change from baseline to 4 years between BCVA, FST, ERG, and other metrics were assessed with Spearman correlation coefficients (rs). Main Outcome Measures: Best-corrected visual acuity, FST, and ERG. Results: The annual rate of decline in BCVA was 0.83 (95% confidence interval: 0.65−1.02) letters/year. For FST, the change was 0.09 (0.07−0.11) log cd.s/m2/year for white threshold, 0.10 (0.08−0.12) log cd.s/m2/year for blue threshold, and 0.05 (0.04−0.06) log cd.s/m2/year for red threshold. Changes were 22.6 (17.4−28.2)%/year for white threshold, 26.0 (20.3−32.1)%/year for blue threshold, and 12.3 (8.7−16.0)%/year for red threshold. The high percentage of eyes with undetectable ERGs at baseline limited assessment of change. Conclusions: Best-corrected visual acuity was not a sensitive measure of progression over 4 years. Full-field stimulus threshold was a more sensitive measure; however, additional information on the clinical relevance of changes in FST is needed before this test can be adopted as an endpoint for clinical trials. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article. |
| format | Article |
| id | doaj-art-b8ef91ea53a546e6ad462a40a65092cd |
| institution | OA Journals |
| issn | 2666-9145 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Ophthalmology Science |
| spelling | doaj-art-b8ef91ea53a546e6ad462a40a65092cd2025-08-20T01:57:11ZengElsevierOphthalmology Science2666-91452025-03-015210064810.1016/j.xops.2024.100648Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) StudyDavid G. Birch, PhD0Peiyao Cheng, PhD1Maureen G. Maguire, PhD2Jacque L. Duncan, MD3Allison R. Ayala, MS4Janet K. Cheetham, PharmD5Nicole R. Doucet, MPH6Todd A. Durham, PhD7Abigail T. Fahim, MD, PhD8Frederick L. Ferris, III, MD9Rachel M. Huckfeldt, MD, PhD10Michele Melia, ScM11Michel Michaelides, MD (Res)12Mark E. Pennesi, MD, PhD13José-Alain Sahel, MD14Katarina Stingl, MD15Ajoy Vincent, MBBS, MS16Christina Y. Weng, MD, MBA17Retina Foundation of the Southwest, Dallas, TexasJaeb Center for Health Research, Tampa, FloridaJaeb Center for Health Research, Tampa, FloridaUniversity of California, San Francisco, San Francisco, CaliforniaJaeb Center for Health Research, Tampa, Florida; Correspondence: Allison R. Ayala, MS, Jaeb Center for Health Research, 15310 Amberly Drive, Tampa, FL 33647.Foundation Fighting Blindness, Columbia, MarylandJaeb Center for Health Research, Tampa, FloridaFoundation Fighting Blindness, Columbia, MarylandUniversity of Michigan, Kellogg Eye Center, Ann Arbor, MichiganOphthalmic Research Consultants, Waxhaw, North CarolinaMassachusetts Eye and Ear, Boston, MassachusettsJaeb Center for Health Research, Tampa, FloridaMoorfields Eye Hospital and UCL Institute of Ophthalmology, London, United KingdomCasey Eye Institute - Oregon Health & Science University, Portland, OregonInstitut 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 CIC 1423, Paris, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PennsylvaniaUniversity Eye Hospital, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; Center for Rare Eye Diseases, University of Tübingen, Tübingen, GermanyDepartments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, CanadaBaylor College of Medicine, Houston, TexasPurpose: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the USH2A-related Retinal Degeneration study and to assess their suitability as clinical trial endpoints. Design: Prospective natural history study. Participants: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included. Methods: BCVA, FST, fundus-guided microperimetry, static perimetry, and spectral domain OCT were performed annually and ERG at baseline and 4 years only. Mixed effects models were used to estimate annual rates of change with 95% confidence intervals. Associations of change from baseline to 4 years between BCVA, FST, ERG, and other metrics were assessed with Spearman correlation coefficients (rs). Main Outcome Measures: Best-corrected visual acuity, FST, and ERG. Results: The annual rate of decline in BCVA was 0.83 (95% confidence interval: 0.65−1.02) letters/year. For FST, the change was 0.09 (0.07−0.11) log cd.s/m2/year for white threshold, 0.10 (0.08−0.12) log cd.s/m2/year for blue threshold, and 0.05 (0.04−0.06) log cd.s/m2/year for red threshold. Changes were 22.6 (17.4−28.2)%/year for white threshold, 26.0 (20.3−32.1)%/year for blue threshold, and 12.3 (8.7−16.0)%/year for red threshold. The high percentage of eyes with undetectable ERGs at baseline limited assessment of change. Conclusions: Best-corrected visual acuity was not a sensitive measure of progression over 4 years. Full-field stimulus threshold was a more sensitive measure; however, additional information on the clinical relevance of changes in FST is needed before this test can be adopted as an endpoint for clinical trials. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.http://www.sciencedirect.com/science/article/pii/S2666914524001842Electroretinography (ERG)Full-field stimulus thresholds (FST)Best-corrected visual acuity (BCVA)Retinal degenerationUSH2A |
| spellingShingle | David G. Birch, PhD Peiyao Cheng, PhD Maureen G. Maguire, PhD Jacque L. Duncan, MD Allison R. Ayala, MS Janet K. Cheetham, PharmD Nicole R. Doucet, MPH Todd A. Durham, PhD Abigail T. Fahim, MD, PhD Frederick L. Ferris, III, MD Rachel M. Huckfeldt, MD, PhD Michele Melia, ScM Michel Michaelides, MD (Res) Mark E. Pennesi, MD, PhD José-Alain Sahel, MD Katarina Stingl, MD Ajoy Vincent, MBBS, MS Christina Y. Weng, MD, MBA Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study Ophthalmology Science Electroretinography (ERG) Full-field stimulus thresholds (FST) Best-corrected visual acuity (BCVA) Retinal degeneration USH2A |
| title | Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study |
| title_full | Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study |
| title_fullStr | Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study |
| title_full_unstemmed | Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study |
| title_short | Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study |
| title_sort | visual acuity full field stimulus thresholds and electroretinography for 4 years in the rate of progression of ush2a related retinal degeneration rush2a study |
| topic | Electroretinography (ERG) Full-field stimulus thresholds (FST) Best-corrected visual acuity (BCVA) Retinal degeneration USH2A |
| url | http://www.sciencedirect.com/science/article/pii/S2666914524001842 |
| work_keys_str_mv | AT davidgbirchphd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT peiyaochengphd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT maureengmaguirephd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT jacquelduncanmd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT allisonrayalams visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT janetkcheethampharmd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT nicolerdoucetmph visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT toddadurhamphd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT abigailtfahimmdphd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT fredericklferrisiiimd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT rachelmhuckfeldtmdphd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT michelemeliascm visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT michelmichaelidesmdres visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT markepennesimdphd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT josealainsahelmd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT katarinastinglmd visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT ajoyvincentmbbsms visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy AT christinaywengmdmba visualacuityfullfieldstimulusthresholdsandelectroretinographyfor4yearsintherateofprogressionofush2arelatedretinaldegenerationrush2astudy |