Article

A novel dominant RPE65-related retinopathy is caused by p.(E519K), a founder variant of Flemish origin

2025-02-05

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> | Recessive <italic>RPE65</italic> -retinopathy is an inherited retinal disease (IRD) that is a well-known target for gene therapy. Dominant <italic>RPE65</italic> -retinopathy, however, due to the Irish founder variant p.(D477G), is very rare. Here, we present the discovery of a novel dominant <italic>RPE65</italic> -retinopathy caused by ultrarare vari...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cd1e300e-c70c-5dd5-96e2-4dd02ea90b33
DOI: 10.21203/rs.3.rs-5849564/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel dominant RPE65-related retinopathy is caused by p.(E519K), a founder variant of Flemish originDOI 10.21203/rs.3.rs-5849564/v1Read

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsSemantic proximity Read

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.Semantic proximity Read

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.Semantic proximity Read

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.Semantic proximity Read

<i>RPE65</i>-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patientsSemantic proximity Read

A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.Semantic proximity Read

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.Semantic proximity Read

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.Semantic proximity Read

[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies].Semantic proximity Read

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.Semantic proximity Read

The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments.Semantic proximity Read

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.Semantic proximity Read