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Article

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

Ophthalmic genetics - 1 Jun 2021

Aleman Tomas S, O'Neil Erin C, O'Connor Keli, Jiang Yu You, Aleman Isabella A, Bennett Jean, Morgan Jessica I W, Toussaint Brian W

Abstract excerpt

Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 geneMethods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over three years. Visual function was assessed with full-field electroretinograms (ffERGs), kinetic and chromatic perimetry, multimodal imaging with spectral domain optical...

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Identifiers

PMID: 33729075
DOI: 10.1080/13816810.2021.1888132
PMCID: PMC8743897

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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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