Ultra-widefield and anterior-segment optical coherence tomography in Alagille syndrome

Abstract

Purpose: We describe the ocular findings in a patient with Alagille syndrome, included those obtained with ultra-widefield and anterior-segment optical coherence tomography (AS-OCT) imaging. Observations: A previously asymptomatic 29-year-old woman with a heterozygous pathogenic variant in the JAG1 gene was referred for an ophthalmic evaluation. The ocular abnormalities included bilateral posterior embryotoxon, iris atrophy, retinal pigmentary changes in the peripheral and peripapillary regions, and optic disc elevation. Ultra-widefield OCT showed bilateral retinal thinning with increased choroidal hyperreflectivity in the areas of peripheral retinopathy and optic disc elevation. AS-OCT confirmed bilateral iris atrophy. Conclusions and Importance: The ocular abnormalities observed in the present case represent clinical features characteristic of Alagille syndrome. Both ultra-widefield and AS-OCT were useful for assessing the ocular abnormalities in Alagille syndrome.

Keywords

• Decreased axial eye length
• Iris atrophy
• Optic disc drusen
• Optic disc elevation
• Posterior embryotoxon
• Retinal pigmentary changes