Clinical Presentation of Congenital Heterochromia Iridis in Pakistani Patients

Heterochromia iridis is a rare genetic disorder, characterized by variation in the concentration and distribution of the melanin pigment. It is caused by a mutation in genes responsible for the synthesis of melanin pigment iris of the eye. Heterochromia Iridis is inherited as a simple Mendelian trait. Heterochromia is normally harmless and does not require any specific treatment. It can be caused by congenital and acquired conditions like Waardenburg and Horner syndrome. It also occurs due to eye trauma. Eye trauma leads to iron deposition in the eyes which darkens the human iris. There are four types of Heterochromia, such as complete, partial, central, and sectoral Heterochromia. Here we report 3 individuals, two with complete heterochromia iridis and one with sectorial/partial heterochromia iridis. Multiple disorders are associated with heterochromia iridis but these three individuals do not possess any other disorder. Counseling helps to reduce the psychological and mental pressure of the Heterochromia patients.