Article
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Investigative ophthalmology & visual science - 1 May 2024
Heath Jeffery Rachael C, Thompson Jennifer A, Lo Johnny, Chelva Enid S, Armstrong Sean, Pulido Jose S, Procopio Rebecca, Vincent Andrea L, Bianco Lorenzo, Battaglia Parodi Maurizio, Ziccardi Lucia, Antonelli Giulio, Barbano Lucilla, Marques João P, Geada Sara, Carvalho Ana L, Tang Wei C, Chan Choi M, 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, Borooah Shyamanga, Ayton Lauren N, Britten-Jones Alexis Ceecee, Edwards Thomas L, Ruddle Jonathan B, Sharma Abhishek, Porter Rowan G, Lamey Tina M, McLaren Terri L, McLenachan Samuel, Roshandel Danial, Chen Fred K
Abstract excerpt
Purpose: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene. Methods: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus...
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