Incidence of Sturge-Weber Syndrome and Risk of Secondary Glaucoma: A Nationwide Population-based Study Using a Rare Disease Registry

PURPOSE: To determine Sturge-Weber syndrome (SWS) incidence and secondary glaucoma risk. center dot DESIGN: Nationwide retrospective cohort study.METHODS: The Korean National Health Insurance (NHI) claims database from 2002 to 2019 along with the registration-program database for rare intractable diseases (ie, the rare disease registry) were accessed to identify ophthalmologist/neurologist-confirmed SWS patients. SWS incidence was estimated in a same-birth year population (ie, a birth cohort) from 2002 to 2009. Among the SWS patients born between 2002 and 2019, the incidence of SWS-associated glaucoma was estimated.RESULTS: During the 18-year observational period, a total of 1049 patients were registered as SWS. The mean birth-cohort SWS incidence was 3.08 (95% CI 2.52-3.64) per 100 000 people per year, with an approximate female-to-male ratio of 0.97:1. Among the 217 SWS patients born between 2002 and 2019, secondary glaucoma arose in 18 (8.3%) cases, including 12 males (66.7%). Among these 18 SWS-associated glaucoma cases, 15 (83.3%) were diagnosed before 1 year of age, and the other 3 (16.7%) between age 1 and 2 years. Among the 660 SWS patients under age 40 years during the study period, SWS-associated glaucoma was identified in 79 (12.0%) cases. Neurologic manifestations such as epilepsy, hemiparesis, and mental retardation did not significantly differ between SWS patients with and those without secondary glaucoma. CONCLUSIONS: This study identified birth-cohort SWS incidence and determined secondary-glaucoma risk in a population of East Asian ethnicity. These data could help to promote better understanding of the epidemiologic features of SWS patients. (Am J Ophthalmol 2023;247: 121-126.(c) 2022 Elsevier Inc. All rights reserved.)

Automated summary

This nationwide retrospective cohort study aimed to determine the incidence of Sturge-Weber syndrome (SWS) and the risk of secondary glaucoma. The study utilized the Korean National Health Insurance claims database and the rare disease registry to identify confirmed SWS patients. The results showed that the mean birth-cohort SWS incidence was 3.08 per 100,000 people per year, and 8.3% of SWS patients developed SWS-associated glaucoma.