Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents

Abstract

Congenital microphthalmia (CM) is a rare anomaly of the fetal orbit, results from developmental defects of the primary optic vesicle, and is characterized by a reduced eyeball volume and axial diameter. Fetal CM cases have rarely been reported. Herein, we present a case of two fetuses with bilateral CM from the same parents, diagnosed using ultrasonography (US) and magnetic resonance imaging (MRI). We found that the antepartum US and MRI measurements were smaller than the postpartum ones. Genetic testing of the parents and fetuses revealed that GL12 gene mutation may be associated with CM.

Keywords

• congenital microphthalmia
• magnetic resonance imaging
• prenatal diagnosis
• ultrasonography