{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["66(12)"],"submitter":["Van Vooren E"],"pubmed_abstract":["Purpose
Recessive RPE65-associated retinopathy is a well-known target for gene therapy, whereas dominant RPE65-associated retinopathy, due to the Irish founder variant p.(D477G), has been reported only once until now and is very rare. Here, we present the discovery of a novel, second dominant RPE65-associated retinopathy caused by variant c.1555G>A, p.(E519K).Methods
Genomic data was investigated in a Belgian discovery cohort (n = 2873) and an international replication cohort (n = 18,796) with inherited retinal disease (IRD). Heterozygous p.(E519K) individuals underwent extensive phenotyping. Haplotype phasing was based on long-read sequencing and microsatellite analysis. Variant p.(E519K) was assessed in vitro using an enzymatic assay, Western blotting, co-immunoprecipitat"],"journal":["Investigative ophthalmology & visual science"],"pagination":["53"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12468096"],"repository":["biostudies-literature"],"pubmed_title":["RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals."],"pmcid":["PMC12468096"],"pubmed_authors":["Smirnov V","Tuupanen S","Postelmans L","Demaret T","De Bruyne M","Dominant RPE65-p.(E519K) Consortium","Van Heetvelde M","Van Vooren E","Van Os L","Jacob J","Sheri N","Hoefsloot L","Dahan K","Stephenson KAJ","Redmond TM","Uppal S","Gonzalez AI","Leroy BP","Dhaenens CM","Vermeer S","Geens E","Van de Sompele S","Maystadt I","Rasquin F","Mahieu Q","Ruys J","Gregory-Evans CY","De Baere E","Kohl S","Gregory-Evans K","Bauwens M","Van Den Broeck F","Poliakov E","Thiadens AAHJ","Zuleger T","De Zaeytijd J","Platteau E","MacDonald IM"],"additional_accession":[]},"is_claimable":false,"name":"RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.","description":"Purpose
Recessive RPE65-associated retinopathy is a well-known target for gene therapy, whereas dominant RPE65-associated retinopathy, due to the Irish founder variant p.(D477G), has been reported only once until now and is very rare. Here, we present the discovery of a novel, second dominant RPE65-associated retinopathy caused by variant c.1555G>A, p.(E519K).Methods
Genomic data was investigated in a Belgian discovery cohort (n = 2873) and an international replication cohort (n = 18,796) with inherited retinal disease (IRD). Heterozygous p.(E519K) individuals underwent extensive phenotyping. Haplotype phasing was based on long-read sequencing and microsatellite analysis. Variant p.(E519K) was assessed in vitro using an enzymatic assay, Western blotting, co-immunoprecipitat","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-07-15T06:03:08.136Z","creation":"2026-06-30T03:16:36.389Z"},"accession":"S-EPMC12468096","cross_references":{"pubmed":["40985799"],"doi":["10.1167/iovs.66.12.53"]}}