Retinal vascular abnormalities in Sturge-Weber syndrome

Area of Science:

• Ophthalmology
• Genetics
• Neurology

Background:

• Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by facial port-wine stains, leptomeningeal angiomas, and ocular abnormalities.
• While ocular involvement is common, the retinal vasculature is typically normal in SWS patients.

Observation:

• This report details two SWS cases with uncommon retinal vascular anomalies.
• Both patients exhibited nevus flammeus, hemifacial hypertrophy, and choroidal hemangiomas.

Findings:

• One patient presented with a retinal cavernous hemangioma in the affected eye.
• The second patient developed retinal neovascularization secondary to proliferative diabetic retinopathy in the eye with a choroidal hemangioma.

Implications:

• These cases expand the spectrum of known ocular manifestations in Sturge-Weber syndrome.
• Highlights the importance of comprehensive ophthalmological evaluation in SWS patients to detect rare vascular abnormalities.