Abstract
Monogenic human retinal dystrophies are a group of disorders characterized by progressive loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of retinal dystrophy where degeneration of rod photoreceptors occurs at the early stages. At present, there are no available effective therapies to maintain or improve vision in patients affected with retinitis pigmentosa, but post-genomic studies are allowing the development of potential therapeutic approaches. This review summarizes current knowledge on genes that have been identified to be responsible for retinitis pigmentosa, the involvement of these genes in the different forms of the disorder, the role of the proteins encoded by these genes in retinal function, the utility of genotyping, and current efforts to develop novel therapies.
Highlights
Human retinal dystrophies (RD) are a group of disorders characterized by a primary and progressive loss of photoreceptor cells leading to visual handicap
Monogenic RD are rare diseases. e most common form of the disease, retinitis pigmentosa (RP), is characterized by primary degeneration of rod photoreceptors and has an estimated prevalence of around 1 in 4,000 [1,2,3,4], higher frequencies have been reported in some Asian populations (1 in 930 in South India [5], and approximately 1 in 1,000 in China [6])
Nine genes have been identified for Usher syndrome (USH) and 14 for Bardet-Biedl syndrome (BBS). e existence of patients lacking mutations in any of the identified genes indicates that at least one more gene remains unidentified for both syndromes
Summary
Human retinal dystrophies (RD) are a group of disorders characterized by a primary and progressive loss of photoreceptor cells leading to visual handicap. Thera peutic strategies are focused on targeting the specific genetic disorder (gene therapy), slowing or stopping photoreceptor degeneration or apoptosis (growth factors or calcium-blocker applications, vitamin supplements, endogenous cone viability factors), or even the replace ment of lost cells (transplantation, use of stem or precursor cells) Before these strategies can be applied to humans, animal models, preclinical studies and appropriately designed human clinical trials are needed to test different treatments and provide information on their safety and efficacy. A non-invasive cell-based therapy consisting of systemic administration of pluripotent bone-marrow-derived mesenchymal stem cells to rescue vision and associated vascular pathology has been tested in an animal model for RP, resulting in preservation of both rod and cone photoreceptors and visual function [54] These results underscore the potential application of mesenchymal stem cells in treating retinal degeneration.
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