Waardenburg syndrome (WS) is a rare condition characterized by six main features. It has been previously observed that WS is also associated with hypopigmentation of the choroid through multimodal imaging. To our knowledge, this is the first report of using swept-source optical coherence tomography angiography (OCTA) on a patient with known WS.
Report of a single case. The swept-source OCT images were captured using Topcon DRI OCT Triton (Topcon, Inc, Tokyo, Japan), whereas swept-source OCTA images were captured by Optovue AngioVue (Optovue, Inc, Fremont, CA) using DualTrack Motion Correction Technology.
In this case, OCTA demonstrated evidence of normal vasculature of all layers (superficial, deep, and choricocapillaris), a normal foveal avascular zone measuring 0.267 mm2 in the right eye and 0.307 mm2 in the left eye, and a normal capillary density measuring 49.8% in the right eye and 52.6% in the left eye.
There are many conditions that may mimic the hypopigmentation of the choroid associated with WS; it has been documented that these similar conditions such as choroidal nevus, choroidal melanoma, and Vogt–Koyanagi–Harada syndrome all demonstrated abnormal OCTA findings. Unlike these conditions, our patient with WS had unremarkable OCTA findings.