Retinitis Pigmentosa: From Pathomolecular Mechanisms to Therapeutic Strategies

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.

Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases

“…Retinitis Pigmentosa (RP), or rod-cone dystrophy, is the most common inherited retinal disorder, characterized by the progressive atrophy of rod photoreceptors followed by secondary degeneration of cones [81]. The current global incidence of RP is reported to be between 1 in 2000 and 1 in 4000 individuals [82]. Clinically, the disease presents with impaired night vision and narrowing of the visual field.…”

“…As the disease progresses, patients experience progressive vision loss and decreased contrast perception. The clinical triad of bone spicules in the retinal periphery, a pale optic disk, and vessel narrowing on fundoscopy represent the current mainstay of diagnosis and the gateway to genetic testing [82]. Some of the recent studies have used AI to aid with this image processing for an early and accurate diagnosis of the disease.…”