Solmaz Abdolrahimzadeh1, Francesco Parisi1, Flavio Mantelli2, Andrea Perdicchi3, Gianluca Scuderi3. 1. a Ophthalmology Unit, DAI Testa/Collo, Azienda Ospedaliera Universitaria Policlinico Umberto I, University of Rome "Sapienza" , Rome , Italy. 2. b Department of Biology , College of Science and Technology, Temple University , Philadelphia , Pennsylvania , USA. 3. c Ophthalmology Unit, St. Andrea Hospital, NESMOS Department , University of Rome "Sapienza" , Rome , Italy.
Abstract
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.
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.