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- Title
The genetics and ocular findings of Alagille syndrome.
- Authors
Kim, Ben J; Fulton, Anne B
- 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
Seminars in ophthalmology, 2007, Vol 22, Issue 4, p205
- ISSN
0882-0538
- Publication type
Journal Article
- DOI
10.1080/08820530701745108