Abstract

Leukocoria or white pupillary reflex in infancy or childhood is mostly associated with retinoblastoma (an intraocular malignancy). The possibility is increased if buphthalmos is also present, because non-malignant conditions like persistent hyperplastic primary vitreous (PHPV) usually have normal or small eyes. They rarely present with enlarged buphthalmic eye. Such was the condition in our neonate who presented with buphthalmos and leukocoria and was referred to us for management having been diagnosed with retinoblastoma. However, on investigating by imaging techniques (ultrasonography, Doppler and CT Scan) PHPV was confirmed, which is non-malignant. The patient was managed accordingly without enucleation. Even though rare, neonates or infants presenting with buphthalmos and leukocoria, should be investigated for non-malignant conditions like PHPV by imaging techniques to rule out a malignant condition – retinoblastoma.