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

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.

American journal of ophthalmology - 1 Mar 2026

Bianco Lorenzo, Antropoli Alessio, Boulanger-Scemama Elise, Nassisi Marco, Benadji Amine, Mésa Grégoire, O'Toole Louise, Antonio Aline, Condroyer Christel, Andrieu Camille, Sahel José-Alain, Zeitz Christina, Audo Isabelle

Abstract excerpt

OBJECTIVE: To describe the clinical characteristics, natural history, and genotype-phenotype correlations of autosomal recessive bestrophinopathy (ARB). DESIGN: Retrospective cohort study including data collected for clinical practice. PARTICIPANTS: Thirty-four consecutive patients (68 eyes) affected by ARB who had a molecularly confirmed diagnosis followed at a single referral center for inherited retinal...

Read the complete abstract on PubMed

Topics

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

Share to Bestrophins
Share to Electroretinography

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

Share to Eye Diseases, Hereditary

Share to Fluorescein Angiography

Share to Follow-Up Studies

Share to Retinal Diseases

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 41421761
DOI: 10.1016/j.ajo.2025.12.012

Genes

ERG
BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.PMID 41421761Read ↗

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 ↗

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

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

Bestrophinopathies: Clinical Characteristics, Natural History, and Genetic Landscape.Semantic proximity Read ↗

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

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

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

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

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

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

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

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