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

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

Ophthalmic genetics - 1 Sept 2012

MacDonald Ian M, Gudiseva H V, Villanueva Adda, Greve Mark, Caruso Rafael, Ayyagari Radha

Abstract excerpt

PURPOSE: To describe the phenotype and genotype of patients with autosomal recessive bestrophinopathy. METHODOLOGY: The phenotype of the subjects was described after a complete ophthalmological examination, and in various cases, ancillary testing of the visual field, optical coherent tomography, full field electroretinography and electrophysiology. Genetic analysis was carried out by screening the Bestrophin-1...

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 Electrooculography

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Electroretinography

Share to Retina

Share to Tomography, Optical Coherence

Share to Visual Fields

Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 21809908
DOI: 10.3109/13816810.2011.592172

Genes

BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.PMID 21809908Read ↗

BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.Semantic proximity Read ↗

New best1 mutations in autosomal recessive bestrophinopathy.Semantic proximity Read ↗

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

Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.Semantic proximity Read ↗

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathySemantic proximity Read ↗

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

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

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.Semantic proximity Read ↗

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

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).Semantic proximity Read ↗

[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].Semantic proximity Read ↗

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.Semantic proximity Read ↗

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