CAUSES, SYMPTOMS, DIAGNOSIS, AND TREATMENT OF RETINITIS PIGMENTOSA: REVIEW | Quyên | TNU Journal of Science and Technology

CAUSES, SYMPTOMS, DIAGNOSIS, AND TREATMENT OF RETINITIS PIGMENTOSA: REVIEW

About this article

Received: 09/06/25                Revised: 02/12/25                Published: 03/12/25

Authors

1. Tran Thi Le Quyen Email to author, Da Nang University of Medical Technology and Pharmacy
2. Tran Thi Thanh Tram, Da Nang University of Medical Technology and Pharmacy
3. Ho Thi Nguyen Sa, Da Nang University of Medical Technology and Pharmacy

Abstract


Retinitis pigmentosa is the most common hereditary retinal degeneration leading to blindness. The disease manifests and progresses with various clinical symptoms over time, depending on the severity and rate of disease progression, which can result in blurred vision or complete vision loss. The aim of this article is to provide an overview of the causes, symptoms, treatment methods, and nutritional support for patients with retinitis pigmentosa. The manuscript synthesizes and analyzes data related to retinitis pigmentosa based on scientific databases such as PubMed, Google Scholar, Scopus, and Web of Science. The content will describe the progression of the disease, starting from initial symptoms such as night blindness to severe vision impairment. We will discuss the cellular mechanisms, clinical characteristics, and genetic forms of the disease. Additionally, the article will present current treatment approaches and nutritional strategies aimed at slowing disease progression. This information aims to establish a scientific basis to assist ophthalmologists in implementing effective preventive and therapeutic measures for patients.

Keywords


Bardet–biedl syndrome; Gene mutation; Photoreceptor cells; Retinitis pigmentosa; Usher syndrome

References


[1] D. T. Hartong, E. L. Berson, and T. P. Dryja, "Retinitis pigmentosa," The Lancet, vol. 368, no. 9549, pp. 1795-1809, 2006.

[2] S. J. Moore et al., "Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study," American Journal of Medical Genetics Part A, vol. 132, no. 4, pp. 352-360, 2005.

[3] V. Marigo, "Programmed cell death in retinal degeneration: targeting apoptosis in photoreceptors as potential therapy for retinal degeneration," Cell Cycle, vol. 6, no. 6, pp. 652-655, 2007.

[4] C. Hamel, "Retinitis pigmentosa," Orphanet Journal of Rare Diseases, vol. 1, no. 1, pp. 1-12, 2006.

[5] S. S. Bhattacharya et al., "Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1. 28," Nature, vol. 309, no. 5965, pp. 253-255, 1984.

[6] J. J. L. Tee, A. Kalitzeos, A. R. Webster, T. Peto, and M. Michaelides, "Quantitative analysis of hyperautofluorescent rings to characterize the natural history and progression in RPGR-associated retinopathy," Retina, vol. 38, no. 12, pp. 2401-2414, 2018.

[7] T. B. O'Neal and E. E. Luther, "Retinitis pigmentosa," in StatPearls, StatPearls Publishing, 2021, pp. 1795-1809, 2006.

[8] S. Ferrari, E. Di Iorio, V. Barbaro, D. Ponzin, F. S Sorrentino, and F. Parmeggiani, "Retinitis pigmentosa: genes and disease mechanisms," Current genomics, vol. 12, no. 4, pp. 238-249, 2011.

[9] D. A. Thorsteinsson, V. Stefansdottir, T. Eysteinsson, S. Thorisdottir, and J. J. Jonsson, "Molecular genetics of inherited retinal degenerations in Icelandic patients," Clinical Genetics, vol. 100, no. 2, pp. 156-167, 2021.

[10] Y. J. Yang, J. Peng, D. Ying, and Q. H. Peng, "A brief review on the pathological role of decreased blood flow affected in retinitis pigmentosa," Journal of Ophthalmology, vol. 2018, pp. 1-7, 2018.

[11] T. P. Dryja et al., "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa," Nature, vol. 343, no. 6256, pp. 364-366, 1990.

[12] A. T. Fahim, S. P. Daiger, and R. G. Weleber, "Nonsyndromic retinitis pigmentosa overview," GeneReviews, vol. 2023, pp. 1-15, 2023.

[13] N. A. Adams, A. Awadein, and H. S. Toma, "The retinal ciliopathies," Ophthalmic Genetics, vol. 28, no. 3, pp. 113-125, 2007.

[14] J. M. Millán, E. Aller, T. Jaijo, F. Blanco-Kelly, A. Gimenez-Pardo, and C. Ayuso, "An update on the genetics of usher syndrome," Journal of Ophthalmology, vol. 2011, pp. 1-8, 2011.

[15] D. G. Birch, J. L. Anderson, and G. E. Fish, "Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy," Ophthalmology, vol. 106, no. 2, pp. 258-268, 1999.

[16] T. Cabral, J. D. Sengillo, J. K. Duong, S. Justus, K. Boudreault, and K. Schuerch, "Retrospective analysis of structural disease progression in retinitis Pigmentosa utilizing multimodal imaging," Sci. Rep., vol. 7, no. 1, 2017, Art. no. 10347.

[17] S. Rayapudi, S. G. Schwartz, X. Wang, and P. Chavis, "Vitamin A and fish oils for retinitis pigmentosa," Cochrane Database of Systematic Reviews, no. 12, pp. 1-10, 2013.

[18] C. O. X. Sn, "Treatment of chronic macular edema with acetazolamide," Arch Ophthalmol, vol. 106, pp. 1054-1062, 1996.

[19] G. A. Fishman, L. D. Gilbert, R. G. Fiscella, A. E. Kimura, and L. M. Jampol, "Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa," Archives of Ophthalmology, vol. 107, no. 10, pp. 1445-1452, 1989.

[20] L. H. P. Wielders et al., "Prevention of cystoid macular edema after cataract surgery in nondiabetic and diabetic patients: a systematic review and meta-analysis," American Journal of Ophthalmology, vol. 160, no. 5, pp. 968-981, 2015.

[21] A. M. Mansour et al., "Intravitreal dexamethasone implant in retinitis pigmentosa–related cystoid macular edema," Retina, vol. 38, no. 2, pp. 416-423, 2018.

[22] O. Artunay, E. Yuzbasioglu, R. Rasier, A. Sengul, and H. Bahcecioglu, "Intravitreal ranibizumab in the treatment of cystoid macular edema associated with retinitis pigmentosa," Journal of Ocular Pharmacology and Therapeutics, vol. 25, no. 6, pp. 545-550, 2009.

[23] S. A. Strong, A. Gurbaxani, and M. Michaelides, "Treatment of retinitis pigmentosa-associated cystoid macular oedema using intravitreal aflibercept (Eylea) despite minimal response to ranibizumab (Lucentis): a case report," Case Reports in Ophthalmology, vol. 7, no. 2, pp. 389-397, 2016.

[24] A. Y. Chow, A. K. Bittner, and M. T. Pardue, "The artificial silicon retina in retinitis pigmentosa patients (an American Ophthalmological Association thesis)," Transactions of the American Ophthalmological Society, vol. 108, pp. 120–154, 2010.

[25] J. Ward and P. Meijer, "Visual experiences in the blind induced by an auditory sensory substitution device," Consciousness and Cognition, vol. 19, no. 1, pp. 492-500, 2010.

[26] J.-B. Ducloyer, G. Le Meur, T. Cronin, O. Adjali, and M. Weber, "Gene therapy for retinitis pigmentosa," Medecine Sciences: M/S, vol. 36, no. 6-7, pp. 607-615, 2020.

[27] A. M. Maguire et al., "Safety and efficacy of gene transfer for Leber's congenital amaurosis," New England Journal of Medicine, vol. 358, no. 21, pp. 2240-2248, 2008.

[28] M. F. Dias et al., "Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives," Progress in Retinal and Eye Research, vol. 63, pp. 107-131, 2018.

[29] Y. He et al., "Recent advances of stem cell therapy for retinitis pigmentosa," International Journal of Molecular Sciences, vol. 15, no. 8, pp. 14456-14474, 2014.

[30] P. G. Limoli, E. M. Vingolo, C. Limoli, and M. Nebbioso, "Stem cell surgery and growth factors in retinitis pigmentosa patients: pilot study after literature review," Biomedicines, vol. 7, no. 4, pp. 1-18, 2019.

font-family:"Times New Roman",serif;mso-fareast-font-family:Calibri;mso-fareast-theme-font:

minor-latin;mso-ansi-language:EN-US;mso-fareast-language:EN-US;mso-bidi-language:

AR-SA'>




DOI: https://doi.org/10.34238/tnu-jst.13025

Refbacks

  • There are currently no refbacks.
TNU Journal of Science and Technology
Rooms 408, 409 - Administration Building - Thai Nguyen University
Tan Thinh Ward - Thai Nguyen City
Phone: (+84) 208 3840 288 - E-mail: jst@tnu.edu.vn
Based on Open Journal Systems
©2018 All Rights Reserved