Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes

Adv Exp Med Biol. 2023:1415:173-182. doi: 10.1007/978-3-031-27681-1_26.


Inherited retinal degenerations (IRDs) are a group of genetic disorders characterized by progressive dysfunction and loss of photoreceptors. IRDs are classified as non-syndromic or syndromic, depending on whether retinal degeneration manifests alone or in combination with other associated symptoms. Joubert syndrome (JBTS) is a genetically and clinically heterogeneous disorder affecting the central nervous system and other organs and tissues, including the neuroretina. To date, 39 genes have been associated with JBTS, a majority of which encode structural or functional components of the primary cilium, a specialized sensory organelle present in most post-mitotic cells, including photoreceptors. The use of whole exome and IRD panel next-generation sequencing in routine diagnostics of non-syndromic IRD cases led to the discovery of pathogenic variants in JBTS genes that cause photoreceptor loss without other syndromic features. Here, we recapitulate these findings, describing the JBTS gene defects leading to non-syndromic IRDs.

Keywords: AHI1; ARL3; CEP290; Genotype-phenotype correlation; INPP5E; Joubert syndrome; Non-syndromic IRD; OFD1.

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / pathology
  • Cerebellum / pathology
  • Eye Abnormalities* / genetics
  • Eye Abnormalities* / pathology
  • Humans
  • Kidney Diseases, Cystic* / genetics
  • Mutation
  • Pedigree
  • Retina / pathology
  • Retinal Degeneration* / genetics
  • Retinal Degeneration* / pathology

Supplementary concepts

  • Agenesis of Cerebellar Vermis