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Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.

ABSTRACT: Purpose:To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations:Six siblings, age range 50-75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing.In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G > A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)). One sibling was unaffected and carried neither of the variants, while another sibling had mild macular degeneration changes and carried the latter variant in heterozygous status. The affected siblings presented with a phenotype showing markedly constricted visual field, flat scotopic and photopic electroretinogram responses and generalized retinal atrophy. Conclusions and importance:This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in CNGB1, being associated with a severe form of retinitis pigmentosa featuring extensive peripheral and central retinal degeneration. This study expands the molecular genetic basis of CNGB1-related disease.

SUBMITTER: Alshamrani AA

PROVIDER: S-EPMC7315105 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.

Alshamrani Abdulaziz A AA Raddadi Osama O Schatz Patrik P Lenzner Steffen S Neuhaus Christine C Azzam Eman E Abdelkader Ehab E

American journal of ophthalmology case reports 20200613

<h4>Purpose</h4>To report a severe phenotype of retinitis pigmentosa associated with novel mutations in <i>CNGB1</i>.<h4>Observations</h4>Six siblings, age range 50-75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing.In four affected siblings, two novel compound heterozygous variants in <i>CNGB1</i> were detected: in exon 26 the missense variant c.2 ...[more]

PMID: 32613137

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Project description:ImportanceSNRNP200 is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.ObjectiveTo describe the retinal phenotype in patients with RP secondary to variants in SNRNP200.Design, setting, and participantsThis retrospective, case-series study was performed at 2 tertiary referral centers for inherited retinal diseases. Participants included 9 consecutive patients from 8 families with RP attributed to variants in SNRNP200. Data were collected from August 2017 to March 2018 and analyzed from May to July 2018.Main outcomes and measuresResults of clinical evaluation, multimodal retinal imaging, and molecular genetic testing using targeted next-generation sequencing.ResultsOf the 9 patients included in the analysis (4 female and 5 male; mean [SD] age at presentation, 19 [15] years), each presented with nyctalopia, typically in the first 2 decades of life, although 2 patients experienced symptom onset in middle age. None had any consistent systemic features suggestive of syndromic RP. Retinal imaging studies and electroretinography findings were typical of a rod-predominant dystrophy with later involvement of cone photoreceptors. Phenotypic heterogeneity was typified by 4 unrelated patients with the common c.2041C>T SNRNP200 variant who demonstrated a variable age of disease onset (middle teenage years to the fourth decade of life). Disease progression was slow, with all but 1 patient maintaining visual acuity of better than 20/40 in the better-seeing eye in the fifth and sixth decades of life.Conclusions and relevanceThese data suggest that variants in SNRNP200 result in nonsyndromic RP with a typical phenotype of a rod-predominant dystrophy. Significant phenotypic heterogeneity and nonpenetrance were noted within some affected families. Symptom onset was typically within the first 2 decades of life, with slow progression and well-preserved visual acuities into the fifth and sixth decades.

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Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.

Publications

Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.

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