Ocular changes may help diagnose Alagille syndrome

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.

Reference
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.