Abstract: Retinitis pigmentosa is an inherited disease, in which mutations in different types of genes lead to the death of photoreceptors and the loss of visual function. Although retinitis pigmentosa is the most common type of inherited retinal dystrophy, a clear line of therapy has not yet been defined. In this review, we will focus on the therapeutic aspect and attempt to define the advantages and disadvantages of the protocols of different therapies. The role of some therapies, such as antioxidant agents or gene therapy, has been established for years now. Many clinical trials on different genes and mutations causing RP have been conducted, and the approval of voretigene nepavorec by the FDA has been an important step forward. Nonetheless, even if gene therapy is the most promising type of treatment for these patients, other innovative strategies, such as stem cell transplantation or hyperbaric oxygen therapy, have been shown to be safe and improve visual quality during clinical trials. The treatment of this disease remains a challenge, to which we hope to find a solution as soon as possible.

Retinitis pigmentosa: from pathomolecular mechanisms to therapeutic strategies / Vingolo, Enzo Maria; Mascolo, Simona; Miccichè, Filippo; Manco, Gregorio. - In: MEDICINA. - ISSN 1648-9144. - 60:1(2024). [10.3390/medicina60010189]

Retinitis pigmentosa: from pathomolecular mechanisms to therapeutic strategies

Vingolo, Enzo Maria
Primo
Conceptualization
;
Mascolo, Simona
Secondo
Writing – Original Draft Preparation
;
Manco, Gregorio
Ultimo
Writing – Original Draft Preparation
2024

Abstract

Abstract: Retinitis pigmentosa is an inherited disease, in which mutations in different types of genes lead to the death of photoreceptors and the loss of visual function. Although retinitis pigmentosa is the most common type of inherited retinal dystrophy, a clear line of therapy has not yet been defined. In this review, we will focus on the therapeutic aspect and attempt to define the advantages and disadvantages of the protocols of different therapies. The role of some therapies, such as antioxidant agents or gene therapy, has been established for years now. Many clinical trials on different genes and mutations causing RP have been conducted, and the approval of voretigene nepavorec by the FDA has been an important step forward. Nonetheless, even if gene therapy is the most promising type of treatment for these patients, other innovative strategies, such as stem cell transplantation or hyperbaric oxygen therapy, have been shown to be safe and improve visual quality during clinical trials. The treatment of this disease remains a challenge, to which we hope to find a solution as soon as possible.
2024
retinitis pigmentosa; inherited retinal disease; genotype; therapy; ERG; vitamin A; HBO; cells transplantation; AAV
01 Pubblicazione su rivista::01a Articolo in rivista
Retinitis pigmentosa: from pathomolecular mechanisms to therapeutic strategies / Vingolo, Enzo Maria; Mascolo, Simona; Miccichè, Filippo; Manco, Gregorio. - In: MEDICINA. - ISSN 1648-9144. - 60:1(2024). [10.3390/medicina60010189]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1700474
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