Alagille Syndrome Clinical Care Program

The Eyes and Alagille Syndrome

The eye problems associated with Alagille syndrome primarily involve the anterior (front) chamber of the eye and the retina. Approximately 90 percent of children with Alagille have posterior embryotoxon, which also occurs in 8 to 15 percent of the general population. Some children also experience retinal pigmentary (color) changes. While scientists initially thought these changes were the result of dietary deficiencies, these changes have now been reported in individuals with Alagille syndrome who have normal levels of vitamins A and E.

View a diagram of the anatomy of the eye

Posterior embryotoxon, commonly associated with Alagille syndrome, causes no medical problems on its own, and therefore doesn't require treatment.

Rarer eye problems associated with Alagille syndrome may require treatment.

Reviewed by: Binita M. Kamath, MD
Date: January 2009

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