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Distribution of Port-Wine Birthmarks and Glaucoma Outcomes in Sturge-Weber Syndrome
Daniel M Vu1, Harald Gjerde2, Abdelrahman M Elhusseiny3
1Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Insights
Features like port-wine birthmarks involving the lower eyelid and choroidal hemangiomas are linked to glaucoma in Sturge-Weber syndrome (SWS). However, no factors predicted treatment failure in this SWS patient group.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a port-wine birthmark (PWB), neurological abnormalities, and vascular malformations.
- Glaucoma is a significant ocular complication of SWS, potentially leading to vision loss.
- Identifying specific SWS features associated with glaucoma is crucial for early detection and management.
Purpose of the Study:
- To determine which clinical and imaging features of Sturge-Weber syndrome are most associated with the onset, severity, and treatment outcomes of glaucoma.
- To investigate the relationship between specific SWS manifestations and glaucoma development in pediatric patients.
Main Methods:
- A retrospective cross-sectional study was conducted involving children with SWS.
- Electronic health records from 2014-2020 were reviewed, collecting data from dermatology, neurology, and ophthalmology.
- Logistic regression analysis identified factors associated with glaucoma development, surgical progression, and treatment failure.
Main Results:
- Over half of SWS patients (52.3%) developed glaucoma, with 26.1% affected bilaterally.
- Glaucoma diagnosis was significantly associated with bilateral port-wine birthmarks (PWBs), lower eyelid PWB involvement, and choroidal hemangiomas.
- Eyes requiring surgery were more likely to have lower eyelid PWBs; no factors predicted treatment failure.
Conclusions:
- Specific SWS features, particularly lower eyelid port-wine birthmarks and choroidal hemangiomas, are spatially related to glaucoma development.
- Leptomeningeal angiomas were not associated with glaucoma, potentially due to their distance from the eye.
- Further research is needed to understand the mechanisms driving glaucoma in SWS and to improve treatment strategies.
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.
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