The genetics and ocular findings of Alagille syndrome

Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. doi: 10.1080/08820530701745108.

Abstract

Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.

Publication types

  • Review

MeSH terms

  • Alagille Syndrome / diagnosis
  • Alagille Syndrome / genetics*
  • Anterior Eye Segment / abnormalities*
  • Calcium-Binding Proteins / genetics
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics
  • Jagged-1 Protein
  • Ligands
  • Membrane Proteins / genetics
  • Mutation
  • Optic Disk / abnormalities*
  • Receptor, Notch1 / genetics
  • Retinitis Pigmentosa / genetics*
  • Serrate-Jagged Proteins
  • Signal Transduction / physiology

Substances

  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jagged-1 Protein
  • Ligands
  • Membrane Proteins
  • NOTCH1 protein, human
  • Receptor, Notch1
  • Serrate-Jagged Proteins