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Article

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.

Genes - 30 Mar 2023

Geada Sara, Teixeira-Marques Francisco, Teixeira Bruno, Carvalho Ana Luísa, Lousan Nuno, Saraiva Jorge, Murta Joaquim, Silva Rufino, Zanlonghi Xavier, Defoort-Dhellemmes Sabine, Smirnov Vasily, Dhaenens Claire-Marie, Blanchet Catherine, Meunier Isabelle, Marques João Pedro

Abstract excerpt

CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients...

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Identifiers

PMID: 37107588
DOI: 10.3390/genes14040830
PMCID: PMC10137467

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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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