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

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

Ophthalmic genetics - 1 Dec 2017

Hardin Joshua S, Schaefer G Bradley, Sallam Ahmed B, Williams M Kathryn, Uwaydat Sami

Abstract excerpt

INTRODUCTION: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. It has a variable phenotype with white flecks in the retina, multifocal yellow subretinal deposits, macular edema, choroidal neovascularization, hyperopia, and electrophysiological abnormalities. We describe a family with ARB and multigenerational inheritance. METHODS: Three generations...

Read the complete abstract on PubMed

Topics

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

Share to Bestrophins
Share to Consanguinity
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genetic Testing

Share to Inheritance Patterns

Share to Retinal Diseases

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 28481155
DOI: 10.1080/13816810.2017.1318926

Genes

BEST1
SRF

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

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.PMID 28481155Read ↗

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

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

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

Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.Semantic proximity Read ↗

[Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].Semantic proximity Read ↗

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

Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.Semantic proximity Read ↗

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

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

Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family.Semantic proximity Read ↗

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

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.Semantic proximity Read ↗

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