Dataset Information

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

ABSTRACT: 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 August 2015 through July 2017. The setting was a multicenter study involving 4 tertiary referral centers for inherited retinal dystrophies. Participants were 9 patients with CNGB1-associated RP. Main Outcomes and Measures:Results of olfactory testing, ocular phenotyping, and molecular genetic testing using targeted next-generation sequencing. Results:Nine patients were included in the study, 3 of whom were female. Their ages ranged between 34 and 79 years. All patients had an early onset of night blindness but were usually not diagnosed as having RP before the fourth decade because of slow retinal degeneration. Retinal features were characteristic of a rod-cone dystrophy. Olfactory testing revealed reduced or absent olfactory function, with all except one patient scoring in the lowest quartile in relation to age-related norms. Brain magnetic resonance imaging and electroencephalography measurements in response to olfactory stimulation were available for 1 patient and revealed no visible olfactory bulbs and reduced responses to odor, respectively. Molecular genetic testing identified 5 novel (c.1312C>T, c.2210G>A, c.2492+1G>A, c.2763C>G, and c.3044_3050delGGAAATC) and 5 previously reported mutations in CNGB1. Conclusions and Relevance:Mutations in CNGB1 may cause an autosomal recessive RP-olfactory dysfunction syndrome characterized by a slow progression of retinal degeneration and variable anosmia or hyposmia.

SUBMITTER: Charbel Issa P

PROVIDER: S-EPMC6136054 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature

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Publications

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

Charbel Issa Peter P Reuter Peggy P Kühlewein Laura L Birtel Johannes J Gliem Martin M Tropitzsch Anke A Whitcroft Katherine L KL Bolz Hanno J HJ Ishihara Kenji K MacLaren Robert E RE Downes Susan M SM Oishi Akio A Zrenner Eberhart E Kohl Susanne S Hummel Thomas T

JAMA ophthalmology 20180701 7

<h4>Importance</h4>Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause.<h4>Objective</h4>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.<h4>Design, setting, and participants</h4>This case series was conducted from August 2015 through July 2017. The setting was a multicenter stu ...[more]

PMID: 29800053

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Project description:PurposeRetinitis pigmentosa (RP) shows great diversity between genotypes and phenotypes, and it is important to identify the causative genes. This study aimed to analyze the molecular profiles, associated ocular characteristics, and progression of RP in Korean patients.MethodsAll the genetic variants in patients with RP, identified using targeted next-generation sequencing (NGS) with a panel of 88 RP-related genes between November 2018 and November 2019, were retrospectively reviewed. All the patients underwent comprehensive ophthalmological evaluations, and their clinical and family histories were recorded. The best-corrected visual acuity (BCVA) deterioration and photoreceptor disruption progression rates were determined based on the major causative mutational genes using nonlinear mixed models, and the differences among them were investigated using the interaction effect.ResultsAmong the 144 probands, 82 variants in 24 causative genes were identified in 77 families (53.5%). Most of the RP cases were associated with autosomal recessive variants (N = 64 (44.4%)), followed by autosomal dominant (N = 10 (6.9%)) and X-linked variants (N = 3 (2.1%)). The four most frequently affected genes were EYS (N = 15 (10.4%)), USH2A (N = 12 (8.3%)), PDE6B (N = 9 (6.3%)), and RP1 (N = 8 (5.6%)). Epiretinal membranes and cystoid macular edema were frequently noted in the patients with USH2A (75.0%) and PDE6B (50.0%) variants, respectively. During the follow-up period, the BCVA and photoreceptor disruption changes were significantly different among the patients carrying the four common causative genes (P=0.014 and 0.034, resp.). Patients with PDE6B variants showed faster BCVA changes (0.2 LogMAR/10 years), and those with USH2A variants showed the fastest ellipsoid zone disruptions (-170.4 µm/year).ConclusionIn conclusion, our genetic analysis using targeted NGS provides information about the prevalence of RP-associated mutations in Korean patients. Delineating clinical characteristics according to genetic variations may help clinicians identify subtype features and predict the clinical course of RP.

Dataset Information

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

Publications

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

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