Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2016.5213
Abstract: Importance There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective To… read more here.
Keywords: clinical characterization; cngb1; retinitis pigmentosa; retinitis ... See more keywords
Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa: Lessons Learned From a Trial of Valproic Acid.
Sign Up to like & getrecommendations! Published in 2018 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2018.1167
Abstract: Retinitis pigmentosa (RP) is a genetically heterogeneous group of photoreceptor degenerations for which no treatments exist. In this issue of JAMA Ophthalmology, Birch and colleagues1 report on the repurposing of oral valproic acid as a… read more here.
Keywords: trial; ophthalmology; study; valproic acid ... See more keywords
Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2022.6254
Abstract: This post hoc analysis of the XIRIUS and XOLARIS studies investigates how changes in visual function associated with cotoretigene toliparvovec gene therapy in participants with RPGR-variant X-linked retinitis pigmentosa compare with those of untreated individuals. read more here.
Keywords: retinitis pigmentosa; cotoretigene toliparvovec; linked retinitis; associated cotoretigene ... See more keywords
Estimation of Visual Function Using Deep Learning From Ultra-Widefield Fundus Images of Eyes With Retinitis Pigmentosa
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2022.6393
Abstract: Key Points Question Can artificial intelligence estimate the visual function of eyes with retinitis pigmentosa from ultra-widefield fundus images? Findings In this multicenter cross-sectional study of 1274 eyes of 695 patients with retinitis pigmentosa, the… read more here.
Keywords: ultra widefield; visual function; widefield fundus; retinitis pigmentosa ... See more keywords
Altered brain network centrality in middle‐aged patients with retinitis pigmentosa: A resting‐state functional magnetic resonance imaging study
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Behavior"
DOI: 10.1002/brb3.1983
Abstract: The purpose of this study is to explore the underlying functional network brain activity changes of patients in middle‐aged with retinitis pigmentosa (RP) and the relationships with clinical features such as depression scale and visual… read more here.
Keywords: network; study; retinitis pigmentosa; middle aged ... See more keywords
Microglial‐induced Müller cell gliosis is attenuated by progesterone in a mouse model of retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2018 at "Glia"
DOI: 10.1002/glia.23243
Abstract: Norgestrel, a progesterone analogue, has demonstrated neuroprotective effects in a mouse model of retinitis pigmentosa. Neuroprotection is achieved in part through Norgestrels anti‐inflammatory properties, alleviating detrimental microglial activity. Gliosis is a feature of many neurodegenerative… read more here.
Keywords: ller; gliosis; retinitis pigmentosa; cell gliosis ... See more keywords
Flavonoids improve the stability and function of P23H rhodopsin slowing down the progression of retinitis pigmentosa in mice
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neuroscience Research"
DOI: 10.1002/jnr.25021
Abstract: The balanced homeostasis of the G protein–coupled receptor (GPCR), rhodopsin (Rho), is required for vision. Misfolding mutations in Rho cause photoreceptor death, leading to retinitis pigmentosa (RP) and consequently blindness. With no cure currently available,… read more here.
Keywords: retinitis pigmentosa; function; p23h rho; stability ... See more keywords
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1131
Abstract: This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). read more here.
Keywords: families retinitis; application targeted; targeted panel; retinitis pigmentosa ... See more keywords
Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1537
Abstract: Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic variations… read more here.
Keywords: chinese families; syndromic autosomal; retinitis pigmentosa; non syndromic ... See more keywords
Metabolic alterations in the visual pathway of retinitis pigmentosa rats: A longitudinal multimodal magnetic resonance imaging study with histopathological validation
Sign Up to like & getrecommendations! Published in 2022 at "NMR in Biomedicine"
DOI: 10.1002/nbm.4751
Abstract: Because retinitis pigmentosa (RP) has been shown to cause degenerative changes in the entire visual pathway, there is an urgent need to perform longitudinal assessments of RP‐induced degeneration and identify imaging protocols to detect this… read more here.
Keywords: magnetic resonance; resonance imaging; retinitis pigmentosa; resonance ... See more keywords
X-linked Retinitis Pigmentosa.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-95046-4_8
Abstract: X-linked retinitis pigmentosa (XLRP) is considered to be one of the most severe forms of retinitis pigmentosa (RP). It accounts for about 6-20% of all RP cases, including about 10% in the United States and… read more here.
Keywords: biology; linked retinitis; retinitis pigmentosa;