Ocular abnormalities in Alagille syndrome

Objective: To assess the type and frequency of ocular abnormalities occurri ng in Alagille syndrome (AS) in a large group of affected patients and thei r parents and the potential pathogenetic role of fat-soluble vitamin defici ency. Design: Observational case series. Participants: Twenty-two children with AS and 23 of their parents participa ted. Main Outcome Measures: Participants underwent full ophthalmic examination, including refraction, orthoptic examination, keratometry, slit-lamp examina tion, and funduscopy. Corneal diameter measurement was performed in a subse t of nine and fluorescein angiography in a subset of six. Serum levels of v itamins A and E and cholesterol were measured. Results: The most common ocular abnormalities in patients with AS were post erior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigme ntation (57%, a previously unreported finding), speckling of the retinal pi gment epithelium (33%), and optic disc anomalies (76%). Microcornea was not associated with large refractive errors, and visual acuity was not signifi cantly affected by these ocular changes. Vitamin levels were normal. Ocular abnormalities including posterior embryotoxon, iris abnormalities, and opt ic disc or fundus pigmentary changes were detected in one parent in 36% of cases. Conclusions: Alagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and proba bly unrelated to fat-soluble vitamin deficiency. Simple ophthalmic examinat ion of children with neonatal cholestatic jaundice and their parents should allow early diagnosis of AS, eliminating the need for extensive and invasi ve investigations.