Swept-Source Optical Coherence Tomography and Optical Coherence Tomography Angiography Findings in Waardenburg Syndrome

Abstract

Purpose: 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.Methods: 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.Results: In this case, OCTA demonstrated evidence of normal vasculature of all layers (superficial, deep, and choricocapillaris), a normal foveal avascular zone measuring 0.267 mm 2 in the right eye and 0.307 mm 2 in the left eye, and a normal capillary density measuring 49.8% in the right eye and 52.6% in the left eye.Conclusion: 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.

Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I

“…This is plausible embryologically, as choroidal and iris neural crest cells arise from different waves of neural crest cell migration. 11 In terms of other imaging findings, ultra-widefield fluorescein angiography 12 and OCT angiography 13 have demonstrated normal retinal vasculature in WS. There have been mixed reports with regards to choroidal thickness, with one case report suggesting choroidal thickening 12 and others describing decreased choroidal thickness in the areas of hypopigmentation.…”