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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Med Genet. Dec 2, 2025; 13(1): 112991
Published online Dec 2, 2025. doi: 10.5496/wjmg.v13.i1.112991
Published online Dec 2, 2025. doi: 10.5496/wjmg.v13.i1.112991
Reevaluating Usher syndrome: Transitioning from traditional subtypes to precision diagnosis
Marco Zeppieri, Department of Ophthalmology, University Hospital of Udine, Udine 33100, Italy
Marco Zeppieri, Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste 34129, Italy
Mutali Musa, Department of Optometry, University of Benin, Benin 300283, Nigeria
Maria Francesca Cordeiro, Fabiana D’Esposito, Imperial College Ophthalmic Research Group Unit, Imperial College, London NW1 5QH, United Kingdom
Caterina Gagliano, Fabiana D’Esposito, Department of Medicine and Surgery, University of Enna "Kore", Enna 94100, Italy
Caterina Gagliano, Eye Center, G.B. Morgagni-DSV, Catania 95125, Italy
Author contributions: Zeppieri M, Musa M, and Cordeiro MF contributed to the scientific editing; Zeppieri M and D’Esposito F did the research and writing of the manuscript; Cordeiro MF and Gagliano C assisted in the writing of the draft and final paper; Zeppieri M, Musa M, Cordeiro MF, Gagliano C, and D’Esposito F wrote the outline, were responsible for the conception and design of the study, assisted in the editing, making critical revisions of the manuscript and viewing all versions of the manuscript, provided the final appr
Conflict-of-interest statement: All authors have no conflicts of interest to declare.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Marco Zeppieri, MD, PhD, Department of Ophthalmology, University Hospital of Udine, Maria Della Misericordia 15, Udine 33100, Italy.
Received: August 12, 2025
Revised: August 14, 2025
Accepted: November 13, 2025
Published online: December 2, 2025
Processing time: 111 Days and 21.8 Hours
Revised: August 14, 2025
Accepted: November 13, 2025
Published online: December 2, 2025
Processing time: 111 Days and 21.8 Hours
Core Tip
Core Tip: Usher syndrome is a genetically and phenotypically heterogeneous disease that can no longer be approached with rigid subtype-based diagnostic criteria. This opinion review highlights the urgent need for genotype-first diagnostic pathways, identifies current limitations in variant interpretation and imaging standardization, and advocates for interdisciplinary care models. It also emphasizes how emerging gene therapies for USH2A, MYO7A, and CLRN1 necessitate early molecular diagnosis to ensure patient eligibility and optimal treatment outcomes.