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Indian J Ophthalmol. 2020 Jan;68(1):216-218. doi: 10.4103/ijo.IJO_750_19.

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

Author information

1
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, and Beijing Ophthalmology Visual Science Key Lab, Beijing; Department of Ophthalmology, Chaoyang Central Hospital, Chaoyang, Liaoning Province, China.
2
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, and Beijing Ophthalmology Visual Science Key Lab, Beijing, China.
3
Department of Radiology, The Second Hospital of Hebei Medical University, Hebei Medical University, Shijiazhuang, Hebei Province, China.
4
Department of Ultrasound, The Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei Province, China.
5
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.

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

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