Ultra-widefield and anterior-segment optical coherence tomography (AS-OCT) imaging are both useful in assessing the ocular abnormalities in Alagille syndrome, according to a new case study published in the American Journal of Ophthalmology Case Reports.

“The ocular abnormalities observed in the present case represent clinical features characteristic of Alagille syndrome,” wrote first author Nobuhiro Kato from the Department of Ophthalmology, Kurume University School of Medicine, in Fukuoka, Japan and the coauthors of the study. 

The case was of a woman, aged 29 years with no previous symptoms, who had a heterozygous pathogenic variant in the JAG1 gene (c.1457dup p.[Asp487Argfs*4]). This denoted a frameshift leading to aspartic acid-487 being the first affected amino acid that changed into arginine, and the new reading frame ended in a stop codon at position 4. This resulted in the truncation of the JAG1 protein and has not been reported previously.


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The patient was referred for an ophthalmic evaluation. She had ocular abnormalities that included bilateral posterior embryotoxon, iris atrophy, changes in her retinal pigmentation in the peripheral and peripapillary regions, and optic disc elevation. Bilateral retinal thinning with increased choroidal hyperreflectivity in peripheral retinopathy and optic disc elevation were apparent with ultra-widefield OCT. Bilateral iris atrophy was confirmed with AS-OCT.

“Both ultra-widefield and AS-OCT were useful for assessing these ocular abnormalities,” the authors concluded but added that more research is needed to establish whether the retinopathies in the peripheral and peripapillary regions are progressive.

Alagille syndrome is characterized by a wide range of ophthalmic abnormalities affecting the cornea, iris, retina, and optic disc. The most common ocular abnormalities include posterior embryotoxon, diffuse fundus hypopigmentation, optic disc anomalies, microcornea, iris stromal hypoplasia, regional peripapillary retinal depigmentation, and anomalous optic discs. 

Reference

Kato N, Haruta M, Takase R, Watanabe Y, Yoshida S. Ultra-widefield and anterior-segment optical coherence tomography in Alagille syndrome. Am J Ophthalmol Case Rep. 2021;24:101213. doi:10.1016/j.ajoc.2021.101213