[Ocular anomalies in Alagille's syndrome].
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 expression of ADH, including the characteristic facial appearance and posterior embryotoxon. Another brother presented only retinal pigmentary abnormalities and a bilateral arcus senilis-like corneal opacity, without any other clinical sign of ADH. The presence of posterior embryotoxon in all the cases of Alagille syndrome confirms that this sign is a hallmark of ADH, also in its benign expression.
Ricci
B
B
Service d'Ophtalmologie, Université Catholique du Sacré-Coeur, Rome, Italie.
Lepore
D
D
Iossa
M
M
Santo
A
A
Chiaretti
A
A
D000015:Abnormalities, Multiple; D000328:Adult; D016738:Alagille Syndrome / Q000235:genetics*; D000867:Anterior Chamber / Q000196:embryology; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D007640:Keratoconus / Q000196:embryology / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010641:Phenotype
Anomalies oculaires dans le syndrome d'Alagille.