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Conventional supplements such as vitamin A or docosahexaenoic acid provide limited benefit and do not stop disease advancement. This review integrates clinical phenotypes and pathogenic mechanisms, emphasizing disrupted ciliary transport and metabolic homeostasis, summarizes preclinical model advances, and evaluates AAV-based gene replacement and emerging early-phase trials, while highlighting remaining challenges including coding sequence instability, vector delivery efficiency, and long-term safety.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/advances-in-rpgr-gene-therapy-for-x-linked-retinitis-pigmentosa-review/435813/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/advances-in-rpgr-gene-therapy-for-x-linked-retinitis-pigmentosa-review/435813.png","ImageObject",300,407,{"name":92,"@type":93},"dabgoudw","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-01","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":34},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What causes X-linked retinitis pigmentosa in this review?","Question",{"text":112,"@type":113},"The review states that X-linked retinitis pigmentosa is primarily caused by mutations in the RPGR gene, which is a major driver of the disease and is also linked to cone-rod dystrophy.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Why does gene therapy have potential compared with conventional interventions?",{"text":117,"@type":113},"Conventional vitamin A or docosahexaenoic acid supplementation offers limited benefits and cannot halt progression. Gene therapy is presented as a promising strategy to modify the disease course by targeting RPGR-related mechanisms.",{"name":119,"@type":110,"acceptedAnswer":120},"Which preclinical models and therapeutic approaches are discussed?",{"text":121,"@type":113},"The review summarizes advances using cross-species models including mice, dogs, zebrafish, and induced pluripotent stem cell-derived organoids, and evaluates approaches such as adeno-associated virus (AAV)-mediated gene replacement and cRISPR-Cas9 gene editing.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},435813,1791165381,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":34,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145,"preview_page_count":4},3985747860484,"https://ap-avatar.wpscdn.com/davatar_276721f389ce27ea32af1340a28f341c","INTERNATIONAL JOURNAL OF MOLEcULAR MEdIcINE 57: 52, 2026  \nAdvances in RPGR gene therapy for X‑linked retinitis pigmentosa: From preclinical insights to clinical  \napplication (Review)  \nYUSHAN LONG 1,2* , JIA QI 1,2* , WENLIANG ZHANG 1,2 , HUAN QIN 1,2 and KAI YAO 1,2  \n1  \nInstitute of Visual Neuroscience and Stem cell Engineering, Wuhan University of Science and Technology, Wuhan, Hubei 430065, 2  \nP.R. china; college of Life Sciences and Health, Wuhan University of Science and Technology, Wuhan, Hubei 430065, P.R. china  \nReceived August 18, 2025; Accepted december 3, 2025  \ndOI: 10.3892/ijmm.2025.5723  \nAbstract. X‑linked retinitis pigmentosa, primarily caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene, represents one of the most severe forms of inherited retinal degeneration, with early onset and rapid progression. conventional interventions, such as vitamin A ordocosahexaenoic acid supplementation, offer limited benefits and fail to halt disease progression. By contrast, gene therapy has emerged as a promising approach to alter the disease course. The present review summarizes the clinical pheno‑ types and pathogenic mechanisms associated with RPGR mutations, focusing on their disruption of ciliary transport and metabolic homeostasis. The present review further discusses advances in preclinical models, including mice, dogs, zebrafish and induced pluripotent stem cell‑derived organ‑ oids, that have facilitated the development of RPGR‑targeted therapies. Adeno‑associated virus‑based gene replacement has shown efficacy in restoring retinal structure and function, and several approaches have progressed to early‑phase clinical trials . despite encouraging outcomes, challenges such as RPGR coding sequence instability, vector delivery efficiency and long‑term safety remain. The present review integrates current mechanistic understanding and therapeutic progress, providing a translational perspective for precision treatment of RPGR‑associated retinal diseases.  \nCorrespondence to: dr Huan Qin or dr Kai Yao, Institute of Visual Neuroscience and Stem cell Engineering, Wuhan University of Science and Technology, 2 Huangjiahu West Road, Hongshan, Wuhan, Hubei 430065, P.R. china  \nE‑mail: [qhainne2021@outlook.com](qhainne2021@outlook.com)  \nE‑[mail: kyao21@outlook.com](mail: kyao21@outlook.com)  \n*contributed equally  \nKey words: RPGR gene, X‑linked retinitis pigmentosa, ciliary dysfunction, AAV‑based gene therapy, preclinical models, photoreceptor degeneration  \nContents  \n1. Introduction  \n2. clinical and genetic features of RPGR‑associated retinopathies  \n3. Molecular features of RPGR and disease associations  \n4. Mechanistic insights into RPGR‑associated retinal degeneration  \n5. Preclinical research progress in RPGR mutation  \n6. clinical progress of RPGR gene therapy  \n7. conclusion and perspective  \n1. Introduction  \nRetinitis pigmentosa (RP) is an inherited retinal disease (IRd) characterized by progressive degeneration of photoreceptor cells, with a global prevalence of ~1/4,000, and it currently has no effective cure (1‑4) . X‑linked RP (XLRP) is one of the most severe forms of RP. Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are the main cause of XLRP and are also associated with cone‑rod dystrophy (cORd) (5‑9) .  \nThe RPGR gene is located on the short arm of the human X chromosome (Xp11.4) (3,10) . RPGR proteins interact with other proteins at the connecting cilium (cc) of photoreceptor cells to form a complex regulatory network, which main‑ tains the functional stability of the cc by coordinating key processes such as vesicle transport. Mutations in the RPGR gene lead to loss of RPGR function. This disruption impairs the normal protein transport system in photoreceptor cells, which subsequently disturbs metabolic and synthetic homeo‑ stasis [such as, renewal of outer segment (OS) disc membranes] and alters light signaling cascades. Together, these changes ultimately lead ","cbCaifgGn9gNNkfP","https://ap.wps.com/l/cbCaifgGn9gNNkfP","pdf",14176552,35,"English","# Introduction\n# Clinical and genetic features of RPGR-associated retinopathies\n# Molecular features of RPGR and disease associations\n# Mechanistic insights into RPGR-associated retinal degeneration\n# Preclinical research progress in RPGR mutation\n# Clinical progress of RPGR gene therapy\n# Conclusion and perspective","[{\"question\":\"What causes X-linked retinitis pigmentosa in this review?\",\"answer\":\"The review states that X-linked retinitis pigmentosa is primarily caused by mutations in the RPGR gene, which is a major driver of the disease and is also linked to cone-rod dystrophy.\"},{\"question\":\"Why does gene therapy have potential compared with conventional interventions?\",\"answer\":\"Conventional vitamin A or docosahexaenoic acid supplementation offers limited benefits and cannot halt progression. Gene therapy is presented as a promising strategy to modify the disease course by targeting RPGR-related mechanisms.\"},{\"question\":\"Which preclinical models and therapeutic approaches are discussed?\",\"answer\":\"The review summarizes advances using cross-species models including mice, dogs, zebrafish, and induced pluripotent stem cell-derived organoids, and evaluates approaches such as adeno-associated virus (AAV)-mediated gene replacement and cRISPR-Cas9 gene editing.\"}]","Advances in RPGR Gene Therapy for X-linked Retinitis Pigmentosa - Review | PDF",1790675389,88]