Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. The onset, severity and clinical course of RP shows great variability and unpredictability, with most patients already experiencing some degree of visual disability in childhood. While RP is currently untreatable for the majority of patients, significant efforts have been made in the development of genetic therapies, which offer new hope for treatment for patients affected by inherited retinal dystrophies. In this exciting era of emerging gene therapies, it remains imperative to continue supporting patients with RP using all available options to manage their condition. Patients with RP experience a wide variety of physical, mental and social-emotional difficulties during their lifetime, of which some require timely intervention. This review aims to familiarize readers with clinical management options that are currently available for patients with RP.
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http://dx.doi.org/10.3390/ijms24087481 | DOI Listing |
Am J Ophthalmol Case Rep
December 2024
Genomic Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Purpose: To report the posterior segment findings in a case with a biallelic frameshift pathogenic variant at chromosome 10 c.616del exon7 p.(His206Thrfs∗61).
View Article and Find Full Text PDFFront Pharmacol
December 2024
Shenzhen Eye Hospital, Shenzhen Eye Institute, Shenzhen, Guangdong, China.
Purpose: To compare the efficacy of intravitreal antivascular endothelial growth factor (anti-VEGF) agents with oral carbonic anhydrase inhibitors (CAIs) in treating cystoid macular edema (CME) secondary to retinitis pigmentosa (RP).
Methods: This retrospective study analyzed 98 patients (98 eyes) with RP-CME: 47 (48.0%) received intravitreal anti-VEGF agents (Ranibizumab or Bevacizumab) and 51 (52.
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFInflammation
December 2024
Shenzhen Eye Hospital, Shenzhen Eye Institute, JinanUniversity, 18 Zetian Road, Shenzhen, 518040, Guangdong, China.
Microglia are highly specialized resident macrophages in the central nervous system that play a pivotal role in modulating neuroinflammation. Microglial plasticity is essential for their function, allowing them to polarize into proinflammatory M1-like or anti-inflammatory M2-like phenotypes. However, the mechanisms driving M1 and M2 microglial induction during retinal degeneration remain largely unexplored.
View Article and Find Full Text PDFJ Genet Genomics
December 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China; Key Laboratory of Reproductive Medicine of Guangdong Province, the First Affiliated Hospital and School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China. Electronic address:
Mutations in the Rhodopsin (RHO) gene are the main cause of autosomal dominant retinitis pigmentosa (adRP), 84% of which are pathogenic gain-of-function point mutations. Treatment strategies for adRP typically involve silencing or ablating the pathogenic allele, while normal RHO protein replacement has no meaningful therapeutic benefit. Here, we present an adenine base editor (ABE)-mediated therapeutic approach for adRP caused by RHO point mutations in vivo.
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