Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

17 Aug 2021

Abstract excerpt

Purpose To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod–cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children and adults. Design Retrospective cohort study. Participants Patients with pathogenic variants in RLBP1 registered in a single French reference center specialized in inherited retinal dystrophies. Methods Clinical,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ocular Disorders and Treatments
Share to Retinal Development and Disorders
Share to Retinopathy of Prematurity Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36247817
DOI: 10.1016/j.xops.2021.100052

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Retinitis Punctata Albescens and RLBP1-Allied PhenotypesPMID 36247817Read ↗

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.Semantic proximity Read ↗

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.Semantic proximity Read ↗

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.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 ↗

Retinitis pigmentosa and allied conditions today: a paradigm of translational researchSemantic proximity Read ↗

Dual CRALBP isoforms unveiled: iPSC-derived retinal modelling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapySemantic proximity Read ↗

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.Semantic proximity Read ↗

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.Semantic proximity Read ↗

Non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.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 1. Molecular genetic characteristics of inherited retinal pathologies].Semantic proximity Read ↗

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.