A rare case of anophthalmia without any family history and antenatal risk factors

Abstract

Anophthalmia is a rare genetic disorder. It is defined as the absence of one or both eyes in a patient. It can be unilateral or bilateral. Based on the absence of anatomical structures, it is divided into primary, secondary, and degenerative anophthalmia. It occurs in an infant with a diabetic mother or any exposure to teratogens. Most of the patients have a positive family history of anophthalmia or related genetic disorder. Its diagnosis is crucial as there is a similar condition called micro ophthalmia. Sometimes it is difficult to differentiate between severe microphthalmia and anophthalmia. We present a case of a 5-day-old infant diagnosed with bilateral anophthalmia. In the majority of the cases of bilateral anophthalmia the patients usually have a positive family history of antenatal exposure to teratogenic substances. But in our case, no family history or antenatal teratogenic exposure was noted.

Keywords

• Anophthalmia
• Micro-ophthalmia
• Magnetic resonance imaging
• Teratogens