Retinal pigment epithelium-photoreceptor layer alterations in a patient with Sturge-Weber syndrome with diffuse choroidal hemangioma.

PURPOSE

To describe an 8-year-old girl with diagnosis of Sturge-Weber syndrome (SWS) presenting with glaucoma, abnormal iris vessels, diffuse choroidal hemangioma, and small white dot-shaped "microdrusen-like" alterations of the retina in the right eye.

PATIENT AND METHODS

Complete ophthalmological examination was performed with slit-lamp anterior segment assessment and fundus ophthalmoscopy. Near infrared reflectance (NIR) and enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) were carried out.

RESULTS

Microdrusen-like retinal alterations observed with fundus ophthalmoscopy appeared as multiple hyperreflective dots surrounded by a hyporeflective ring on NIR. EDI SD-OCT showed increased choroidal thickness exceeding 1000 μm. B-scan cross-sectional examination on the hyperreflective dots revealed focal alterations of the retinal pigment epithelial (RPE)-photoreceptor layer.

CONCLUSIONS

The increase of the choroidal thickness due to the diffuse choroidal hemangioma caused alterations of the RPE-photoreceptor layer similar to reticular pseudodrusen or pachychoroid pigment epitheliopathy.