title: 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.
authors.forename: Netan
authors.initials: N
authors.lastname: Choudhry
authors.forename: Rajesh C
authors.initials: RC
authors.lastname: Rao
mesh_terms: D015862:Choroid Diseases / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D005260:Female; D005451:Fluorescein Angiography; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D007499:Iris Diseases / Q000175:diagnosis; D008875:Middle Aged; D064847:Multimodal Imaging; D010859:Pigmentation Disorders / Q000175:diagnosis; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014849:Waardenburg Syndrome / Q000175:diagnosis*