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Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.

Abstract
A 45-year-old woman was referred for bilateral irregular fundus pigmentation. Dilated fundus examination revealed irregular hypopigmentation posterior to the equator in both eyes, confirmed by fundus autofluorescence. A thickened choroid was seen on enhanced-depth imaging spectral-domain optical coherence tomography (EDI SD-OCT). Systemic evaluation revealed sensorineural deafness, telecanthus, and a white forelock. Further investigation revealed a first-degree relative with Waardenburg syndrome. Waardenburg syndrome is characterized by a group of features including telecanthus, a broad nasal root, synophrys of the eyebrows, piedbaldism, heterochromia irides, and deafness. Choroidal hypopigmentation is a unique feature that can be visualized with ultrawide-field fundus autofluorescence. The choroid may also be thickened and its thickness measured with EDI SD-OCT.
AuthorsNetan Choudhry, Rajesh C Rao
JournalOphthalmic surgery, lasers & imaging retina (Ophthalmic Surg Lasers Imaging Retina) Vol. 46 Issue 6 Pg. 670-3 (Jun 2015) ISSN: 2325-8179 [Electronic] United States
PMID26114849 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
CopyrightCopyright 2015, SLACK Incorporated.
Topics
  • Choroid Diseases (diagnosis)
  • Craniofacial Abnormalities (diagnosis)
  • Female
  • Fluorescein Angiography
  • Hearing Loss, Sensorineural (diagnosis)
  • Humans
  • Iris Diseases (diagnosis)
  • Middle Aged
  • Multimodal Imaging
  • Pigmentation Disorders (diagnosis)
  • Retinal Pigment Epithelium (pathology)
  • Tomography, Optical Coherence
  • Waardenburg Syndrome (diagnosis)

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