Distribution of Port-Wine Birthmarks and Glaucoma Outcomes in Sturge-Weber Syndrome

Purpose: To identify which features of Sturge-Weber syndrome (SWS) were most associated with glaucoma onset, severity, and treatment failure at a tertiary care center.

Design: Retrospective cross-sectional study.

Subjects: Children who had SWS with and without glaucoma.

Methods: Electronic health records were reviewed for all children with SWS presenting between 2014 and 2020. Examination and imaging findings from dermatology, neurology, and ophthalmology were collected. Logistic regression was used to identify factors associated with glaucoma-related outcomes.

Main outcome measures: Primary outcomes included glaucoma development, progression to surgery, and treatment failure. Failure was defined as having a final intraocular pressure >21 mmHg, devastating complication, or ≤20/200 vision.

Results: Twenty-three of 44 SWS patients (52.3%) developed glaucoma, and 6 of 23 patients (26.1%) had both eyes affected. Sixteen of 29 eyes (55.2%) required surgery, and 29.6% overall met our failure criteria (mean follow-up: 5.1 ± 4.3 years). Glaucoma diagnosis was associated with bilateral port-wine birthmarks (PWBs; odds ratio [OR] 5.9; 95% confidence interval [CI] 1.3-43.2), PWB with any lower eyelid involvement (OR 9.7, 95% CI 2.6-44.5), and choroidal hemangiomas (OR 3.8, 95% CI 1.1-13.8), but was not associated with upper eyelid or leptomeningeal angiomas, seizures, prior hemispherectomy, or pulsed-dye laser. Eyes that progressed to surgery were more likely to have PWB affecting the lower eyelid (OR 33.7, 95% CI 4.5-728.0). No clinical or demographic factors were associated with treatment failure. In most cases, angle surgery failed (72.7%) but was a temporizing measure before subconjunctival filtering surgery.

Conclusions: Lower eyelid and choroidal angiomas were associated with glaucoma diagnosis, suggesting a spatial relationship with SWS findings. However, leptomeningeal angiomas were not associated, possibly because these are further from the eye.

Financial disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.