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 statu

SUBMITTER: Alshamrani AA 

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

REPOSITORIES: biostudies-literature