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

BACKGROUND: Waardenburg syndrome type I (WS-I) is a rare autosomal-dominant auditory-pigmentary disorder with limited reports in the Ophthalmic literature. MATERIALS AND METHODS: We describe the history, clinical findings and detailed retinal imaging (ultra-widefield fundus images, fundus autofluorescence and optical coherence tomography) from a patient with WS-I. CASE DESCRIPTION: Our patient had a history of white forelock and congenital hearing loss. Ophthalmic examination demonstrated iris heterochromia and highly asymmetric choroidal hypopigmentation, with generalised fundus hyperautofluorescence. Similarly, the patient’s mother demonstrated highly asymmetric fundus hypopigmentation. Genetic testing confirmed a pathogenic PAX3 nonsense variant. CONCLUSION: Our report demonstrates that highly asymmetric choroidal hypopigmentation is within the clinical spectrum of WS-I. ABBREVIATIONS: OCT: Optical coherence tomography; WS-I: Waardenburg syndrome type 1