The genetics and ocular findings of Alagille syndrome.

Ben J Kim, Anne B Fulton

Journal: Seminars in ophthalmology 2008;22(4):205-10

PMID: 18097983

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.

Address: Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA. [email protected]

DOI: 10.1080/08820530701745108

Link outs

Free resources

Medical:

https://medlineplus.gov/genetics/gene/jag1

Subscription / membership required

Full Text Sources:

https://www.tandfonline.com/doi/10.1080/0882053070...

MeSH Terms: Alagille Syndrome, Anterior Eye Segment, Calcium-Binding Proteins, Eye Abnormalities, Humans, Intercellular Signaling Peptides and Proteins, Jagged-1 Protein, Ligands, Membrane Proteins, Mutation, Optic Disk, Receptor, Notch1, Retinitis Pigmentosa, Serrate-Jagged Proteins, Signal Transduction