Dr. DIVYA KISHORE

DR. PRIYA SARAF

Abstract

Aim: To document ophthalmic findings in a rare case of Waardenberg syndrome in five siblings

Material and Methods: 3 females and 2 male siblings presented with diminution of vision for 6 months. Both parents had passed away in road traffic accident but eldest daughter gave history of light eye in mother with hearing difficulty. They underwent complete ophthalmic workup.

Results: Patients were aged 5 to 15 years. All but one had myopic refractive error. They all had dystopia canthorum, 2 had sectoral heterochromia, one had rare complete bilateral heterochromia with severe sensorineural hearing loss . Posterior segment was unremarkable except myopic tesselation. No skin patches were noted.

They were diagnosed as waardenberg syndrome type 1(WS1) and referred to ENT specialists for hearing aid fitting and gastrointenterologist for further evaluation for Hirschsprung.

Conclusion: Waardenberg syndrome is a rare disorder with various ophthalmic signs and warrants systemic workup.