2020
DOI: 10.1002/jgm.3154
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RPE65 and retinal dystrophy: Report of new and recurrent mutations

Abstract: Bachground Leber congenital amaurosis (LCA) is a severe and congenital or early onset form of inherited retinitis pigmentosa (RP). To date, approximately 25 genes have been introduced in relation to LCA. In this regard, retinal pigment epithelium‐specific 65 kDa (RPE65) is a well‐known gene mutation that plays a role in the pathogenesis of 5–10% of LCA cases. Methos Two individuals fromseparate families were subjected to ehole exome sequencing (WES). Causativevariants were searched further assessed using Sange… Show more

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Cited by 8 publications
(3 citation statements)
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“…Missense variants may change the RPE65 protein structure by reducing or abolishing the enzyme activity or by changing its location [50]. Thus, not only the variant class but also its location at the protein could be relevant for disease phenotype.…”
Section: Discussionmentioning
confidence: 99%
“…Missense variants may change the RPE65 protein structure by reducing or abolishing the enzyme activity or by changing its location [50]. Thus, not only the variant class but also its location at the protein could be relevant for disease phenotype.…”
Section: Discussionmentioning
confidence: 99%
“…Differentiated ARPE-19 cells constitutively expressed less VEGF mRNA. Mutations in RPE65 have been associated with a number of inherited retinal dystrophies (IRD) [54,55]. RPE65 gene therapy for these predominantly juvenile diseases have shown promising results, but the mechanism of how loss of function of RPE65, the enzyme retinoid isomerohydralase, results in retinal degeneration is not known [56].…”
Section: Discussionmentioning
confidence: 99%
“…LCA is an autosomal recessive disorder that affects 1 in every 81,000 births and for which there is no effective treatment. Mutations in the RPE-specific allosteric hydrolase RPE65 account for 5%-10% of all patients with LCA [102]. Without the action of RPE65, retinyl esters would continue to build up in the RPE and prevent the visual recycling and regeneration of the chromophore 11-cis-retinal [103].…”
Section: Leber Congenital Amaurosismentioning
confidence: 99%