Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review

Journal article

Inherited retinal diseases (IRDs) are a heterogeneous group of genetic disorders characterized by progressive vision loss, posing a significant challenge for traditional treatments. Gene therapy offers a promising avenue for addressing the underlying genetic defects and potentially restoring vision. This paper provides a structured review of preclinical findings in the field of gene therapy for IRDs, focusing on five key aspects: (1) Introduction, (2) Mechanisms of Gene Therapy, (3) Animal Models and In Vivo Studies, (4) Delivery Systems, and (5) Safety and Ethical Considerations. In The "Mechanisms of Gene Therapy" section explores the various approaches, such as gene replacement, editing, and augmentation, that hold potential for treating IRDs. The "Animal Models and In Vivo Studies" section highlights the significance of preclinical research using animal models, emphasizing the relevance of mouse and non-human primate studies. In the "Delivery Systems" section, both viral and non-viral vectors are examined, and their importance in precision targeting is underscored. Finally, in the "Safety and Ethical Considerations" section, safety concerns and ethical dilemmas related to gene therapy are discussed, including the need for rigorous preclinical safety assessments and ethical frameworks. Gene therapy for IRDs shows considerable promise, but the journey from preclinical research to clinical application necessitates rigorous investigation, ethical deliberation, and equitable access. This structured review sheds light on the multifaceted landscape of gene therapy for IRDs, emphasizing the critical role of preclinical findings in paving the way for potential treatments

Authors: Sallum, JMF; Kaur, VP; Shaikh, J; Banhazi, J; Spera, C

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer
• Journal: Advances in Therapy
• Volume: 39
• Issue: 3
• Pages: 1179-1198
• Publication date: 2022-01-30
• DOI: 10.1007/s12325-021-02036-7
• EISSN: 1865-8652
• ISSN: 0741-238X
• Language: English
• Keywords: Internal medicine; Pathology; Ophthalmology; Bioinformatics; RPE65; Biology; Medicine; Epidemiology; Retinitis pigmentosa; Retinal; Genetics; Retinal pigment epithelium