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 Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.

Genes - 4 Jul 2022

Kim Hae Rang, Han Jinu, Kim Yong Joon, Kang Hyun Goo, Byeon Suk Ho, Kim Sung Soo, Lee Christopher Seungkyu

Abstract excerpt

Autosomal recessive bestrophinopathy (ARB) is a rare subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene. ARB is characterized by multifocal subretinal deposits accompanied by macular edema or subretinal fluid, hyperopia, co-existing narrow angle, and a marked decrease in electrooculogram. However, little is known about the genetic variants and specific clinical features of ARB. This is an...

Read the complete abstract on PubMed

Topics

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

Share to Angiotensin-Converting Enzyme Inhibitors
Share to Angiotensin Receptor Antagonists

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bestrophins

Share to Chloride Channels

Share to Electroretinography

Share to Eye Diseases, Hereditary

Share to Retinal Diseases

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 35885980
DOI: 10.3390/genes13071197
PMCID: PMC9320462

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 Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.PMID 35885980Read ↗

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

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.Semantic proximity Read ↗

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

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.Semantic proximity Read ↗

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.Semantic proximity Read ↗

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

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.Semantic proximity Read ↗

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.Semantic proximity Read ↗

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

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

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.Semantic proximity Read ↗

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.Semantic proximity Read ↗

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