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

Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.

Ophthalmic genetics - 1 Sept 2016

Grunin Michelle, Tiosano Liran, Jaouni Tareq, Averbukh Edward, Sharon Dror, Chowers Itay

Abstract excerpt

OBJECTIVE: A minority of patients with adult-onset foveomacular vitelliform dystrophy (AFVD) carry mutations in the PRPH2 gene. This gene is highly polymorphic and it was suggested that single-nucleotide polymorphisms (SNPs) in PRPH2 may also be associated with AFVD. We aimed to evaluate for such an association. METHODS: A single center cohort from a tertiary referral center including 52 consecutive patients with...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to BEST1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Mutation

Share to Peripherins

Share to Phenotype

Share to Polymorphism, Single Nucleotide

Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 26849151
DOI: 10.3109/13816810.2015.1059456

Genes

PRPH2
BEST1
IMPG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.PMID 26849151Read ↗

Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.Semantic proximity Read ↗

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.Semantic proximity Read ↗

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.Semantic proximity Read ↗

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.Semantic proximity Read ↗

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal diseaseSemantic proximity Read ↗

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.Semantic proximity Read ↗

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Semantic proximity Read ↗

Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy.Semantic proximity Read ↗

Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report.Semantic proximity Read ↗

Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.Semantic proximity Read ↗

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.Semantic proximity Read ↗

PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophySemantic proximity Read ↗

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