Abstract
Purpose:
To demonstrate iris and choroidal hypopigmentation in Waardenburg syndrome (WS) with high resolution ocular imaging
Methods:
Retrospective review of 7 patients from 6 families
Results:
There were 3 males and 4 females who referred for evaluation of presumed ocular melanocytosis. In all cases the diagnosis of WS was established. The non-ocular features included white forelock in 4/7 (57%), tubular nose in 5/6 (83%), and small nasal ala in 5/6 (83%). In 2 cases hearing deficit was documented on audiology testing. Family history of Waardenburg syndrome was elicited in 5/7 cases (71%). The ocular features (n=7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients. No patient had muscle contractures or Hirschsprung disease. Visual acuity was 20/20-20/50 in all cases. The iris hypopigmentation (n=8 eyes) was sector in 6 (75%) or diffuse (complete) in 2 (25%). The choroidal hypopigmentation (n=9 eyes, 100%) was sector in 6 (67%) or diffuse in 3 (33%). Iris hypopigmentation was not symmetric in any patient whereas choroidal hypopigmentation was symmetric in 4 of 5 (80%) affected patients. Iris hypopigmentation showed minimal correlation with choroidal hypopigmentation. Imaging with anterior segment optical coherence tomography (OCT) revealed the hypopigmented iris to be thinner and with shallower crypts than normal iris. Posterior segment imaging with OCT revealed normal retina in all cases, but the subfoveal choroid in the hypopigmented region was slightly thinner (mean 197 microns) compared to opposite normal choroid (243 microns). Fundus autofluorescence demonstrated mild homogeneous hyperautofluorescence (scleral unmasking) in hypopigmented choroid and no lipofuscin abnormality. No patient showed features of ocular melanocytosis, albinism, vitiligo, autoimmune disease, previous inflammation, melanoma, or other pigmentary conditions.
Conclusions:
Waardenburg syndrome manifests hypopigmentation of the iris and choroid with imaging features of slight reduction in thickness of affected tissue. Any patient with iris or choroidal hypopigmentation should be evaluated for this syndrome.
Keywords: 744 tumors •
550 imaging/image analysis: clinical •
745 uvea