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Article

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

American journal of ophthalmology - 1 Aug 2015

Scheidecker Sophie, Hull Sarah, Perdomo Yaumara, Studer Fouzia, Pelletier Valérie, Muller Jean, Stoetzel Corinne, Schaefer Elise, Defoort-Dhellemmes Sabine, Drumare Isabelle, Holder Graham E, Hamel Christian P, Webster Andrew R, Moore Anthony T, Puech Bernard, Dollfus Hélène J

Abstract excerpt

PURPOSE: To describe a series of patients with Bardet-Biedl syndrome (BBS) and predominantly retinal cone dysfunction, a previously only rarely reported association. DESIGN: Retrospective observational case series. METHODS: Seven patients with clinically proven Bardet-Biedl syndrome had undergone detailed ocular phenotyping, which included fundus examination, Goldmann visual fields, fundus autofluorescence...

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Source

Identifiers

PMID: 25982971
DOI: 10.1016/j.ajo.2015.05.007

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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