Publication Name	World Journal of Medical Genetics
Manuscript ID	112991
Country	Italy

Category	Ophthalmology
Manuscript Type	Opinion Review
Article Title	Reevaluating Usher syndrome: Transitioning from traditional subtypes to precision diagnosis
Manuscript Source	Invited Manuscript
All Author List	Marco Zeppieri, Mutali Musa, M Francesca Cordeiro, Caterina Gagliano and Fabiana D’Esposito
Funding Agency and Grant Number
Corresponding Author	Marco Zeppieri, MD, PhD, Department of Ophthalmology, University Hospital of Udine, Maria Della Misericordia 15, Udine 33100, Italy. mark.zeppieri@asufc.sanita.fvg.it
Key Words	Usher syndrome; Precision medicine; Inherited retinal dystrophies; Syndromic retinitis pigmentosa; Gene therapy; Genotype-first diagnostics
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.
Citation	Zeppieri M, Musa M, Cordeiro MF, Gagliano C, D’Esposito F. Reevaluating Usher syndrome: Transitioning from traditional subtypes to precision diagnosis. World J Med Genet 2025; In press

Received	2025-08-12 08:05
Peer-Review Started	2025-08-12 08:05
To Make the First Decision
Return for Revision	2025-08-14 08:58
Revised	2025-08-14 10:50
Second Decision	2025-11-13 02:44
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2025-11-13 08:59
Articles in Press	2025-11-13 08:59
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	2220-3184 (online)
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/
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