Introduction: Waardenburg syndrome (WS) is a rare genetic condition resulting in variable melanocyte absence from the skin, hair, eyes, and cochlea. Clinical features can include telecanthus, iris and choroidal hypopigmentation, sensorineural hearing loss, and a white forelock of hair. Typically it is an autosomal dominant condition, with incomplete penetrance, thus giving a wide variety of clinical presentations even within the same family. Multiple mutations have been linked with WS, and there are four distinct types differentiated from each other both clinically and genetically.
Case Report: An 11 year old African American female presented for first eye exam with a complaint of blurry distance vision. She had a history of Type 1 diabetes, congenital deafness, and Grave’s disease. Examination was significant for moderate myopia which corrected vision to 20/20 in each eye, blue irides, and broad areas of choroidal pigmentary changes in both eyes. Upon questioning, patient had a white forelock when younger, and pedigree revealed various phenotypic presentations in the family. At the follow up, retinal OCT imaging was normal and anterior segment and fundus photos showed stability. This phenotype of iris and choroidal hypopigmentation along with congenital deafness meets diagnostic criteria for Waardenburg Syndrome, and was previously undiagnosed in this patient. Patient was referred to genetics for genetic counselling.
Discussion: Waardenburg syndrome varies in its degree of ocular involvement. This case highlights the striking appearance when both the anterior and posterior uvea is affected. On review of the literature, no previously reported associations between WS and endocrine disorders were found, but the genetics of WS are continuing to be established. Ocular manifestations are an important diagnostic finding in a multitude of genetic syndromes, thus priming Optometry for a role in coordination of care in these patients.