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Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous <i>ABCA4</i> Variants: A Case Report and Diagnostic Challenge. [PDF]
Clin Case RepABSTRACT Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration.
Li N, Dang Y.
europepmc +4 more sources
Lancet, The, 2006 Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the ...
Hartong, Dyonne T. +2 more
exaly +8 more sources
Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa [PDF]
Antioxidants, 2020 Long non-coding RNAs (lncRNAs) are untranslated transcripts which regulate many biological processes. Changes in lncRNA expression pattern are well-known related to various human disorders, such as ocular diseases.
Luigi Donato +5 more
openalex +2 more sources
Nature Communications, 2022 Retinal dystrophies such as Retinitis pigmentosa are among the most prevalent causes of inherited legal blindness, for which treatments are in demand. Retinal prostheses have been developed to stimulate the inner retinal network that, initially spared by
Simona Francia +2 more
exaly +2 more sources
Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies
International Journal of Molecular Sciences, 2022 Retinitis pigmentosa (RP) is genetically heterogeneous retinopathy caused by photoreceptor cell death and retinal pigment epithelial atrophy that eventually results in blindness in bilateral eyes.
Kai Yao
exaly +2 more sources
Mechanisms of Photoreceptor Death in Retinitis Pigmentosa
Genes, 2020 Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is characterised by the progressive loss of retinal photoreceptors. However, RP is a highly heterogeneous disease and, while much progress has been made in developing gene ...
Roly D Megaw
exaly +2 more sources
Nature Communications, 2018 Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease.
Adriana Buskin +2 more
exaly +2 more sources
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies
International Journal of Molecular Sciences, 2023 Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors.
X. Nguyen +5 more
semanticscholar +1 more source
Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development
Pharmaceutics, 2023 Retinitis pigmentosa (RP) is a heterogeneous group of hereditary diseases characterized by progressive degeneration of retinal photoreceptors leading to progressive visual decline.
Kevin Y. Wu +5 more
semanticscholar +1 more source