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Article

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

JAMA ophthalmology - 1 Jul 2018

Charbel Issa Peter, Reuter Peggy, Kühlewein Laura, Birtel Johannes, Gliem Martin, Tropitzsch Anke, Whitcroft Katherine L, Bolz Hanno J, Ishihara Kenji, MacLaren Robert E, Downes Susan M, Oishi Akio, Zrenner Eberhart, Kohl Susanne, Hummel Thomas

Abstract excerpt

Importance: Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause. Objective: To report olfactory function and the retinal phenotype in patients with biallelic mutations in CNGB1, a gene coding for a signal transduction channel subunit expressed in rod photoreceptors and olfactory sensory neurons. Design, Setting, and Participants: This case series was conducted from...

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Identifiers

PMID: 29800053
DOI: 10.1001/jamaophthalmol.2018.1621
PMCID: PMC6136054

Genes

CNGB1

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.

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