Congenital Ocular Coloboma of Left Upper Eyelid Associated with Obstructive Hydrocephalus: Management

Coloboma literally means defect. Ocular coloboma of the eyes is an extremely rare congenital developmental defect, which constitute one of important causes of visual impairment and blindness in the pediatric age group. Reported incidence of ocular coloboma is 0.5 to 7.5 per 10, 000 live births. Authors report an interesting case syndromic variety of ocular coloboma, where the upper eyelid coloboma was characteristically associated with mental retardation. Non-contrast computed tomography head scan carried out to assess the systemic involvement, revealed obstructive hydrocephalus for which, medium pressure ventriculoperitoneal shunt was carried out. Presence of stigmata of coloboma should alert treating physician and prompt for detailed systemic evaluation, and appropriate imaging studies including ultrasonography, CT scan or MRI should be carried out to detect associated anomaly. As prompt and early diagnosis is crucial for prevention of complication, so early diagnosis followed by tailor made future therapeutic plan of management is essential for good neurological and visual outcome. So, high degree of suspicion of potentially preventable complications caused by developmental anomaly, if timely detected and early therapeutic intervention can at least delay or can almost eliminate development of complication like visual impairment and blindness.