Article
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.
Investigative ophthalmology & visual science - 1 Apr 2026
Heath Jeffery Rachael C, Thompson Jennifer A, Lo Johnny, Vincent Andrea L, Patil Minal, Bianco Lorenzo, Battaglia Parodi Maurizio, Ziccardi Lucia, Dell'Aquila Carmen, Barbano Lucilla, Tang Wei Chao, Chan Choi Mun, Boon Camiel J F, Hensman Jonathan, Chen Ta-Ching, Lin Chien-Yu, Chen Pei-Lung, Vincent Ajoy, Tumber Anupreet, Heon Elise, Grigg John R, Jamieson Robyn V, Cornish Elisa E, Nash Benjamin M, Chou Jeremy, Lamey Tina M, McLenachan Samuel, Roshandel Danial, Fujinami Kaoru, Chelva Enid, McLaren Terri L, Chen Fred K
Abstract excerpt
Purpose: The purpose of this study was to characterize the clinical features, electrophysiology, and variant spectrum in ABCA4- and PRPH2-retinopathies and to identify novel electrodiagnostic biomarkers to differentiate between these two genotypes. Methods: We conducted an international multicenter case-control study of patients with a clinical and genetic diagnosis of ABCA4- or PRPH2-retinopathy. Age at symptom...
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