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12/1/2025 9:23:10 AM | Browse: 22 | Download: 39
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Received |
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2025-08-12 08:05 |
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Peer-Review Started |
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2025-08-12 08:05 |
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First Decision by Editorial Office Director |
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2025-08-14 08:58 |
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2025-08-14 08:58 |
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Revised |
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2025-08-14 10:50 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2025-11-13 02:44 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2025-11-13 08:59 |
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Articles in Press |
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2025-11-13 08:59 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2025-11-18 00:05 |
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Publish the Manuscript Online |
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2025-12-01 09:00 |
| 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/ |
| Copyright |
© The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Ophthalmology |
| Manuscript Type |
Opinion Review |
| Article Title |
Reevaluating Usher syndrome: Transitioning from traditional subtypes to precision diagnosis
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Marco Zeppieri, Mutali Musa, Maria Francesca Cordeiro, Caterina Gagliano and Fabiana D’Esposito |
| Funding Agency and Grant Number |
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| 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. |
| Publish Date |
2025-12-01 09:00 |
| 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; 13(1): 112991 |
| URL |
https://www.wjgnet.com/2220-3184/full/v13/i1/112991.htm |
| DOI |
https://dx.doi.org/10.5496/wjmg.v13.i1.112991 |
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