Case Report Waardenburg Syndrome Type I With Iris and Retinal Coloboma

Abstract

We present a rare case report, Waardenberg syndrome type I, and ocular abnormalities related to the disease. A Boy, 11 months, presented with blue and hole in inferior iris. Patien also controlled to pediatric and ENT departement according his global developmental delayed, and unresponsiveness to sound stimulus since birth. Patient presented with distophia cantrorum, bilateral iris coloboma, brilliant blue iris, and retinal coloboma. Others systemic condition were skin hypopigmentation, bilateral sensorineural hearing lost, and global developmental delay equal to 6 months old baby. According to manifestations, this supporting diagnosis for Waardenberg syndrome type I. The management consists in treating the symptoms accordingly. Careful follow up and work up is important to improve patient quality of life

Fenomena Lokal “Mata Dwiwarna” di Tinambung Polewali Mandar

“…Satu kasus Waardenburg Syndrome di wilayah Jakarta juga pernah dilaporkan oleh (Zizlavsky et al, 2017). Adapun Lestari & Prastyani (2020) juga pernah melaporkan satu kasus Waardenburg Syndrome di Surabaya. Sampai saat ini, peneliti belum menemukan adanya laporan kasus Waardenburg Syndrome di Wilayah Sulawesi Barat, khususnya Polewali Mandar.…”