Ocular ultrasound in Alagille syndrome: a new sign.

摘要: Background: Alagille syndrome (AS) is one of six forms familial intrahepatic cholestasis, all which present with neonatal jaundice and paucity bile ducts. Differentiation these individual syndromes crucial as their treatments prognoses vary. It the ophthalmic features, posterior embryotoxon on particular, that distinguish AS. Methods: The authors performed full ocular examination, including A- B-scan ultrasound, refraction, and, where possible, fluorescein angiography in 20 unrelated children AS 8 non-AS-related cholestasis. Results: There was ultrasound evidence optic disc drusen at least eye 95% bilateral 80% patients but none who were non-AS time examination. Independent review hard-copy scans suggested 90% cases 50%, although this latter figure rose to 65% angiograms. This markedly higher than incidence normal population (0.3%–2%). Axial lengths shorter expected for older age group (older 10 years age), not associated gross ametropia. Conclusion: strong association has been reported previously represents only first significant between a systemic condition also possibly useful tool diagnosis AS, especially young children.