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

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

Ophthalmology - 1 Jun 2011

Meunier Isabelle, Sénéchal Audrey, Dhaenens Claire-Marie, Arndt Carl, Puech Bernard, Defoort-Dhellemmes Sabine, Manes Gaël, Chazalette Delphine, Mazoir Emilie, Bocquet Béatrice, Hamel Christian P

Abstract excerpt

PURPOSE: To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), which are characterized by autofluorescent deposits. DESIGN: Clinical, electrophysiologic, and molecular retrospective study. PARTICIPANTS: The database of a clinic...

Read the complete abstract on PubMed

Topics

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

Share to Bestrophins
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrooculography

Share to Fluorescein Angiography

Share to Fundus Oculi

Share to Intermediate Filament Proteins

Share to Peripherins

Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 21269699
DOI: 10.1016/j.ophtha.2010.10.010

Genes

BEST1
PRPH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.PMID 21269699Read ↗

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

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.Semantic proximity Read ↗

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

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

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

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.Semantic proximity Read ↗

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.Semantic proximity Read ↗

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.Semantic proximity Read ↗

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.Semantic proximity Read ↗

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.Semantic proximity Read ↗

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

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

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