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

Ophthalmic Genet. 2017 Dec;38(6):567-569. doi: 10.1080/13816810.2017.1313995. Epub 2017 Apr 28.

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.

Keywords: Choroidal hemangioma; Sturge–Weber syndrome; glaucoma; near infrared reflectance; retinal pigment epithelium–photoreceptor layer; spectral domain optical coherence tomography.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Choroid Neoplasms / complications*
  • Choroid Neoplasms / pathology
  • Cross-Sectional Studies
  • Female
  • Hemangioma / complications*
  • Hemangioma / pathology
  • Humans
  • Ophthalmoscopy
  • Photoreceptor Cells, Vertebrate / pathology*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / etiology*
  • Retinal Pigment Epithelium / pathology*
  • Slit Lamp
  • Sturge-Weber Syndrome / complications*
  • Sturge-Weber Syndrome / diagnosis
  • Tomography, Optical Coherence