DR. RAKSHIT AGRAWAL

DR.DR. SHWETA WALIA

Abstract

A 12-year-old female presented to the OPD with history complaining of difference in her eye color since birth. On history taking, it was revealed that the child was deaf and mute since birth. On examining the patient, it revealed that the systemic examination was within normal limits. Ocular examination was as follows; vision of 6/6 by Snellen’s chart, heterochromia iridium, hypertelorism with intercanthal distance of 42mm, flat nasal bridge and up slanting palpebral fissure, and dystopia canthorum. Patient was referred to ENT for pure tone audiometry that was suggestive of Sensorineural hearing loss. A probable diagnosis was made as Waardenburg syndrome type 1.

Heterochromia iridis/iridium when present can be associated with acquired or inherited abnormalities along with pigmentary disorders, hence high suspicion, complete work up and genetic counselling is important to prevent vertical transmission of these disorders.