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.
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Authors | Netan Choudhry, Rajesh C Rao |
Journal | Ophthalmic surgery, lasers & imaging retina
(Ophthalmic Surg Lasers Imaging Retina)
Vol. 46
Issue 6
Pg. 670-3
(Jun 2015)
ISSN: 2325-8179 [Electronic] United States |
PMID | 26114849
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
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Copyright | Copyright 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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