Abstract

A 5 year old female presented to our tertiary centre with the chief complaint of inward deviation of either eye (parents being informant). On ophthalmological examination, the child had poor vision with alternate convergent squint. Anterior segment examination showed posterior embryotoxon and distorted pupil shape (correctopia) in both eyes. There was no polycoria and pupils were normally reacting to light. On fundus evaluation, the optic disc and macula were normal in both eyes. Spectacle correction was prescribed and part time occlusion (1:5, right eye: left eye) was advised for amblyopia treatment. On systemic examination, the child had congenital heart defects with facial dysmorphism with microcephaly, global developmental delay and hypotonia. Genetic analysis confirmed the diagnosis of autosomal dominant Alagille syndrome type 1.