Retinitis pigmentosa: leading cause of blindness of genetic origin
DOI:
https://doi.org/10.35381/s.v.v8i1.3793Keywords:
Retinitis pigmentosa, retinal diseases, eye diseases, (Source: DeCS)Abstract
Objective: To analyze retinitis pigmentosa as a leading cause of blindness of genetic origin. Method: Descriptive documentary, 15 scientific articles published in PubMed were reviewed. Conclusion: The findings of the review indicate that RP is caused by genetic mutations affecting photoreceptors in the retina. These mutations can lead to photoreceptor degeneration and death, resulting in progressive vision loss.
Downloads
References
Gerhardt MJ, Petersen-Jones SM, Michalakis S. (2023). CNG channel-related retinitis pigmentosa. Vision research, 208,108232. https://doi.org/10.1016/j.visres.2023.108232
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK. (2023). Driving with retinitis pigmentosa. Ophthalmic genetics, 44(4):352-360. https://doi.org/10.1080/13816810.2023.2196338
Vingolo EM, Mascolo S, Miccichè F, Manco G. (2024). Retinitis Pigmentosa: From Pathomolecular Mechanisms to Therapeutic Strategies. Medicina (Kaunas, Lithuania), 60(1):189. https://doi.org/10.3390/medicina60010189
Wu Y, Wan X, Zhao D, Chen X., Wang Y, Tang X, Li J, Li S, Sun X, Bi C, Zhang X. (2023). AAV-mediated base-editing therapy ameliorates the disease phenotypes in a mouse model of retinitis pigmentosa. Nature communications, 14(1):4923. https://doi.org/10.1038/s41467-023-40655-6
Aweidah H, Xi Z, Sahel JA, Byrne LC. (2023). PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation. Vision research, 213,108315. https://doi.org/10.1016/j.visres.2023.108315
Kamde SP, Anjankar A. (2023). Retinitis Pigmentosa: Pathogenesis, Diagnostic Findings, and Treatment. Cureus, 15(10):e48006. https://doi.org/10.7759/cureus.48006
O'Neal TB, Luther EE. (2023). Retinitis Pigmentosa. In StatPearls. StatPearls Publishing.
Wongchaisuwat N, Amato A, Lamborn AE, Yang P, Everett L, Pennesi ME. (2023). Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy. Saudi journal of ophthalmology: official journal of the Saudi Ophthalmological Society, 37(4):276-286. https://doi.org/10.4103/sjopt.sjopt_168_23
Lozano BLL, Cervantes ALA. (2023). Development of experimental treatments for patients with retinitis pigmentosa. Archivos de la Sociedad Española de Oftalmología, 98(11):646-655. https://doi.org/10.1016/j.oftale.2023.08.008
Yang P, Mustafi D, Pepple KL. (2024). Immunology of Retinitis Pigmentosa and Gene Therapy-Associated Uveitis. Cold Spring Harbor perspectives in medicine, 14(1):a041305. https://doi.org/10.1101/cshperspect.a041305
Kumari S, Bagraniya V, Kumar V. (2023). Retinitis Pigmentosa in Oliver McFarlane Syndrome. Ophthalmology. Retina, 7(11):1009. https://doi.org/10.1016/j.oret.2023.05.009
Chiew YR. (2023). See-saw nystagmus associated with retinitis pigmentosa. QJM: monthly journal of the Association of Physicians, 116(7):572-573. https://doi.org/10.1093/qjmed/hcad052
Xue Y, Cepko CL. (2023). Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism. Cold Spring Harbor perspectives in medicine, a041289. Advance online publication. https://doi.org/10.1101/cshperspect.a041289
Luque-Mialdea F, Molina-Seoane V. (2023). Retinitis pigmentosa: Significant improvement with photobiomodulation. Archivos de la Sociedad Espanola de Oftalmologia, S2173-5794(23)00155-X. https://doi.org/10.1016/j.oftale.2023.10.001
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O. (2023). Corneal characteristics in patients with retinitis pigmentosa. Photodiagnosis and photodynamic therapy, 42, 103554. https://doi.org/10.1016/j.pdpdt.2023.103554
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Mauricio Fernando Enrríquez-Grijalva , Melany Yamilex Reascos-Chalacán, Carlos Alberto Pérez-Padilla
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
CC BY-NC-SA : Esta licencia permite a los reutilizadores distribuir, remezclar, adaptar y construir sobre el material en cualquier medio o formato solo con fines no comerciales, y solo siempre y cuando se dé la atribución al creador. Si remezcla, adapta o construye sobre el material, debe licenciar el material modificado bajo términos idénticos.
OAI-PMH: https://fundacionkoinonia.com.ve/ojs/index.php/saludyvida/oai.
