Optical coherence tomography useful for evaluating ocular issues in ALGS

Ultra-widefield and anterior-segment optical coherence tomography (OCT) imaging are useful in identifying ocular abnormalities in patients with Alagille syndrome (ALGS), according to a case report.

Posterior embryotoxon, along with other ocular abnormalities, may help establish a clinical diagnosis in some patients with ALGS.

In this case report, a previously asymptomatic woman with a heterozygous pathogenic variant in the JAG1 gene underwent ultra-widefield and anterior-segment OCT which showed bilateral retinal thinning with increased choroidal hyperreflectivity in the areas of peripheral retinopathy and optic disc elevation and confirmed bilateral iris atrophy.

Reference
Kato N, Haruta M, Takase R, et al. Ultra-widefield and anterior-segment optical coherence tomography in Alagille syndrome. Am J Ophthalmol Case Rep. 2021 Sep 21;24:101213. doi: 10.1016/j.ajoc.2021.101213. PMID: 34632159; PMCID: PMC8487889.