TY - JOUR
T1 - The rush2a study
T2 - Best-corrected visual acuity, full-field electroretinography amplitudes, and full-field stimulus thresholds at baseline
AU - Foundation Fighting Blindness Consortium Investigator Group
AU - Birch, David G.
AU - Cheng, Peiyao
AU - Duncan, Jacque L.
AU - Ayala, Allison R.
AU - Maguire, Maureen G.
AU - Audo, Isabelle
AU - Cheetham, Janet K.
AU - Durham, Todd A.
AU - Fahim, Abigail T.
AU - Ferris, Frederick L.
AU - Heon, Elise
AU - Huckfeldt, Rachel M.
AU - Iannaccone, Alessandro
AU - Khan, Naheed W.
AU - Lad, Eleonora M.
AU - Michaelides, Michel
AU - Pennesi, Mark E.
AU - Stingl, Katarina
AU - Vincent, Ajoy
AU - Weng, Christina Y.
N1 - Publisher Copyright:
© 2020 The Authors.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Best corrected visual acuity (BCVA)
KW - Electroretinography (ERG)
KW - Full-field stimulus test
KW - Retinitis pigmentosa
KW - Usher syndrome type 2 (USH2A)
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U2 - 10.1167/tvst.9.11.9
DO - 10.1167/tvst.9.11.9
M3 - Article
AN - SCOPUS:85095995281
SN - 2164-2591
VL - 9
SP - 1
EP - 12
JO - Translational Vision Science and Technology
JF - Translational Vision Science and Technology
IS - 11
M1 - 9
ER -