Characteristic ocular features of pediatric patients with Loeys-Dietz syndrome

To present a comprehensive analysis of ocular features observed in pediatric patients diagnosed with Loeys-Dietz syndrome (LDS).

This prospective observational study included pediatric patients with a confirmed diagnosis of LDS who presented to the Eye Clinic at The Hospital for Sick Children, Toronto, Ontario, from January 2016 to September 2024. Comprehensive ophthalmic examinations were performed, including refraction, corneal imaging, and optic nerve evaluation. Genetic testing results were reviewed to correlate ocular findings with pathogenic variants in TGFBR1, TGFBR2, or TGFB2.

Seventeen pediatric patients (34 eyes) were included, with a mean age of 10.6 ± 3.8 years (range, 4-17 years). The mean spherical equivalent was +0.79 ± 2.39 D. Retinal vascular tortuosity was observed in 18 patients (53%). The mean central corneal thickness was 511 ± 42 μm. Flat corneal curvature (mean K ≤ 42.00 D) was present in 21 eyes (66%). Supernumerary optic disk vessels were noted in 12 eyes (40%), and seven (23%) had an optic disk area >2.50 mm². No lens abnormalities were identified. A single patient had significant myopia (> -1.00 D). No significant associations were found between genetic variants and ocular biometric parameters.

In our small cohort of pediatric patients with LDS, ocular findings included retinal vascular tortuosity, reduced corneal thickness, and optic nerve anomalies. Lenticular abnormalities were absent, and significant myopia was nearly so.