OCULAR ULTRASOUND IN ALAGILLE SYNDROME - A NEW SIGN

Background: Alagille syndrome (AS) is one of six forms of familial int rahepatic cholestasis, all of which present with neonatal jaundice and paucity of intrahepatic bile ducts. Differentiation of these individu al syndromes is crucial as their treatments and prognoses vary. It is the ophthalmic features, posterior embryotoxon on particular, that dis tinguish AS. Methods: The authors performed full ocular examination, i ncluding A- and B-scan ultrasound, refraction, and, where possible, fl uorescein angiography in 20 unrelated children with AS and 8 with non- AS-related cholestasis. Results: There was ultrasound evidence of opti c disc drusen in at least one eye in 95% and bilateral disc drusen in 80% of patients with AS but in none of the patients who were non-AS at the time of examination. Independent review of hard-copy scans sugges ted drusen in at least one eye in 90% of the cases and bilateral druse n in 50%, although this latter figure rose to 65% on review of the ang iograms. This is markedly higher than the incidence in the normal popu lation (0.3%-2%). Axial lengths were shorter than expected for the old er age group (older than 10 years of age), but this was not associated with gross ametropia. Conclusion: This strong association of AS and o ptic disc drusen has not been reported previously and represents not o nly the first significant association between a systemic condition and disc drusen but also a possibly useful toot in the diagnosis of AS, e specially in young children.