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Article

Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

Vision research - 1 Feb 2008

Gerth Christina, Zawadzki Robert J, Werner John S, Héon Elise

Abstract excerpt

Retinal dystrophy in Bardet-Biedl Syndrome (BBS) is caused by defective genes that are expressed within ciliated cells such as photoreceptors. The purpose of this study was to characterize and compare the retinal structure and lamination of two groups of patients, carrying mutations in BBS1 or BBS10. Eight patients with BBS (ages 11.9-28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were tested. A...

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Identifiers

PMID: 17980398
DOI: 10.1016/j.visres.2007.08.024
PMCID: PMC2584151

Genes

BBS10
BBS1

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.

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