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

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Investigative ophthalmology & visual science - 1 Nov 2006

Azari Amir A, Aleman Tomas S, Cideciyan Artur V, Schwartz Sharon B, Windsor Elizabeth A M, Sumaroka Alexander, Cheung Andy Y, Steinberg Janet D, Roman Alejandro J, Stone Edwin M, Sheffield Val C, Jacobson Samuel G

Abstract excerpt

PURPOSE: To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene. METHODS: Ten patients (age range, 16-48 years), representing eight pedigrees, with BBS1 gene mutations were studied clinically and with kinetic perimetry, chromatic static perimetry, electroretinography (ERG), and optical coherence tomography. RESULTS: Of the 10 patients, 8 were M390R homozygotes...

Read the complete abstract on PubMed

Topics

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

Share to Bardet-Biedl Syndrome
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microtubule-Associated Proteins

Share to Retinal Degeneration

Share to Tomography, Optical Coherence

Share to Visual Acuity

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 17065520
DOI: 10.1167/iovs.06-0517

Genes

BBS1
ERG

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

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.PMID 17065520Read ↗

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.Semantic proximity Read ↗

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.Semantic proximity Read ↗

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.Semantic proximity Read ↗

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.Semantic proximity Read ↗

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.Semantic proximity Read ↗

The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.Semantic proximity Read ↗

Non-Syndromic Cone-Predominant Retinal Degeneration Associated with Homozygosity for the M390R Mutation in BBS1 GeneSemantic proximity Read ↗

Genotype-phenotype correlations in Bardet-Biedl syndrome.Semantic proximity Read ↗

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.Semantic proximity Read ↗

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.Semantic proximity Read ↗

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.Semantic proximity Read ↗

Knockout of <i>Bbs10</i> results in lack of cone electrical function and progressive retinal degeneration of rods and conesSemantic proximity Read ↗

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