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

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

Citation

Song D, Song H, Zhou L, Sun C, Wu Q, Li D. Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents. Indian Journal of Ophthalmology. 2020 Jan; 68(1): 216-218

URI

https://imsear.searo.who.int/handle/123456789/197768

Collections

Indian Journal of Ophthalmology

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