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Abstract #72964 Published in IGR 18-4

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

Abdolrahimzadeh S; Parisi F; Mantelli F; Perdicchi A; Scuderi G
Ophthalmic Genetics 2017; 0: 1-3

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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.

a Ophthalmology Unit, DAI Testa/Collo, Azienda Ospedaliera Universitaria Policlinico Umberto I, University of Rome "Sapienza" , Rome , Italy.

Full article

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Classification:

9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.8 Glaucomas associated with intraocular tumors (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)

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