[Ocular anomalies in Alagille's syndrome].

Abstract excerpt

The authors examine a family, in which two brothers were affected by a severe expression of arteriohepatic dysplasia (ADH, Alagille syndrome), an autosomal dominant disorder associated with intrahepatic cholestasis, characteristic facial appearance, congenital embryotoxon. One of these two cases presented a keratoconus and both had retinal pigmentary degeneration with pigment clumping. The father showed a benign...

Topics

• Abnormalities, Multiple
• Adult
• Alagille Syndrome
• Anterior Chamber
• Eye Abnormalities
• Humans
• Keratoconus
• Male
• Middle Aged
• Phenotype