Anophthalmia: A Case Report

Anophthalmia and microphthamia are extremely rare conditions defined as the congenital absence or when one or both eyes are abnormally small in orbit, which are associated with systemic anomalies in more than 50% cases and with different environmental and cromozomal causes. Diagnosis of anophthamia and microphthalmia is possible by sonography CTscan, MRI and amniotic cytologic investigation before delivery. The ideal treatment should begin immediately after delivery. Due to being an extremely rare (1-30 per 100,000 Born) and terrible disease, this case has been presented. Case history: The patient is a male newborn with C/S because of breech situation, with small lid fissure and absence of globe in the orbit upon different examinations and investigations. Another anomaly in this case is the long fingers in hands and four fingers in the feet with syndactyly. There is no globe in A, B scan sonography and MRI of orbit. TORCH test was negative and there were no environmental risk factors. But his parents are family relatives. Risk factors have not been detected in this case, it seems genetic and /or mutation plays a significant role. Diagnosis is possible by imaging and genetic investigation during pregnancy, so they are highly recommended