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

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.

Molecular vision - 1 Jan 2011

Piñeiro-Gallego Teresa, Álvarez María, Pereiro Inés, Campos Severiano, Sharon Dror, Schatz Patrik, Valverde Diana

Abstract excerpt

PURPOSE: To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene. METHODS: Ophthalmologic examination was performed in eight members of two families originating from Spain and Denmark. Mutation screening was performed using the Vitelliform Macular Dystrophy mutation array from Asper...

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
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Denmark

Share to Electrooculography

Share to Eye Proteins

Share to Tomography, Optical Coherence

Share to Vitelliform Macular Dystrophy

Source

Open in PubMed Open full text

Identifiers

PMID: 21738390
PMCID: PMC3123162

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.PMID 21738390Read ↗

Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.Semantic proximity Read ↗

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.Semantic proximity Read ↗

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.Semantic proximity Read ↗

Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.Semantic proximity Read ↗

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.Semantic proximity Read ↗

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.Semantic proximity Read ↗

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.Semantic proximity Read ↗

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.Semantic proximity Read ↗

A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.Semantic proximity Read ↗

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.Semantic proximity Read ↗

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.Semantic proximity Read ↗

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.Semantic proximity Read ↗

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