Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants

Research output: Contribution to journalArticle


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.


  • Abdulaziz A. Alshamrani
  • Osama Raddadi
  • Patrik Schatz
  • Steffen Lenzner
  • Christine Neuhaus
  • Eman Azzam
  • Ehab Abdelkader
External organisations
  • King Khaled Eye Specialist Hospital
  • Skåne University Hospital
  • Bioscientia Institut für Medizinische Diagnostik GmbH
  • Menoufia University
  • Royal Alexandra Hospital, Paisley
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology
  • Medical Genetics


  • CNGB1, Novel variant, Retinitis pigmentosa, Rod-cone dystrophy
Original languageEnglish
Article number100780
JournalAmerican Journal of Ophthalmology Case Reports
Publication statusPublished - 2020
Publication categoryResearch
Externally publishedYes