2018
DOI: 10.1167/tvst.7.4.6
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Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

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Cited by 191 publications
(170 citation statements)
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References 145 publications
(147 reference statements)
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“…Identifying effective neuroprotective therapies for RP and other IRDs stands as a critical unmet need for the field (Duncan et al, 2018;Wubben et al, 2019). Although, neurotrophic factors, anti-apoptotic agents, nutritional supplements and antioxidants have shown neuroprotective effects in animal models of RP (Dias et al, 2017).…”
Section: Discussionmentioning
confidence: 99%
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“…Identifying effective neuroprotective therapies for RP and other IRDs stands as a critical unmet need for the field (Duncan et al, 2018;Wubben et al, 2019). Although, neurotrophic factors, anti-apoptotic agents, nutritional supplements and antioxidants have shown neuroprotective effects in animal models of RP (Dias et al, 2017).…”
Section: Discussionmentioning
confidence: 99%
“…Inherited retinal diseases (IRDs) encompass a group of genetically-linked retinopathies characterized by progressive photoreceptor death (Duncan et al, 2018). IRDs lead to irreversible vision loss, for which treatment strategies are limited.…”
Section: Introductionmentioning
confidence: 99%
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“…This single gene approach will likely be limited to those diseases with a significant number of affected individuals, owing to the expense and difficulties associated with clinical trials. Diseases that lead to loss of vision are due to mutations in a large number of genes, >250 (Duncan et al, 2018;RetNet), and often affect a very small number of individuals. In addition, complementation-based approaches can fall short when gene dosage has to be fine-tuned, and/or a genetic etiology is unknown.…”
Section: Introductionmentioning
confidence: 99%
“…For example, when correlating the computational prediction of misfolding propensity and the age of onset of disease among rhodopsin mutants, some mutations are considered outliers and excluded from the regression analyses(Rakoczy, 2011); however, it is not clear whether the outliers could be due to imperfect computational models or to miscategorization of the mutant. Thus, improving the characterization of DNA variants is scientific importance, and has been included U.S. federal research priorities and identified as a knowledge gap in the understanding of inherited retinal diseases (National Eye Institute, 2012;Duncan, 2018). This study implements an improved method to characterize potentially pathogenic DNA variants causing retinitis pigmentosa (RP).…”
mentioning
confidence: 99%