Alagille Syndrome
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Ocular changes may help diagnose Alagille syndrome

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Changes in the peripheral chorioretinal were found more frequently than posterior embryotoxon in patients with Alagille syndrome (ALGS), suggesting it may help in diagnosis, according to a study.

In this retrospective, observational study, ophthalmologic data from 23 patients with ALGS was analyzed.

Cardiovascular abnormalities, history of hepatobiliary issues, and musculoskeletal anomalies were present in 83%, 61%, and 61%, respectively, of all patients.

Sixteen patients had dysmorphic facies; a broad forehead was the most common feature.

Overall, 91% of patients had ocular symptoms; peripheral vision loss was the most common. Median Snellen visual acuity of all eyes (n = 46) was 20/25. In 75% of these patients, anterior segment abnormalities were noted, with posterior embryotoxon the most frequent finding.

In 52% of patients, abnormalities of the optic disc were noted and in 96% of patients, peripheral retinal abnormalities were found. In 16 patients a total of 15 JAG1 mutations were identified, with 6 being novel.

da Palma MM, Igelman AD, Ku C, et al. Characterization of the spectrum of ophthalmic changes in patients with alagille syndrome. Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):27. doi: 10.1167/iovs.62.7.27. PMID: 34185059.