Ophthalmic Features of Alagille Syndrome (Arteriohepatic Dysplasia)

Abstract

Eight patients with Alagille syndrome (AGS) are reported. In addition to previously reported findings of posterior embryotoxon, pigmentary retinopathy, and choroidal folds, new findings include decreased axial eye lengths, small corneal diameters, and shallow anterior chambers. Optic disc swelling was noted ophthalmoscopically and abnormally increased orbital subarachnoidal fluid was detected through measurements of the arachnoidal diameters with standardized echography.