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  • Title: [Ocular anomalies in Alagille's syndrome].
    Author: Ricci B, Lepore D, Iossa M, Santo A, Chiaretti A.
    Journal: J Fr Ophtalmol; 1991; 14(8-9):481-5. PubMed ID: 1779119.
    Abstract:
    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.
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