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.
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, and Beijing Ophthalmology Visual Science Key Lab, Beijing, China.
Indian J Ophthalmol. 2020 Jan;68(1):216-218. doi: 10.4103/ijo.IJO_750_19.
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.
先天性小眼球症（CM）是一种罕见的胎儿眼眶异常，由初级视囊发育缺陷引起，其特征是眼球体积和轴向直径减小。胎儿 CM 病例很少见。本文报道了一对来自同一对父母的双胞胎胎儿双侧 CM 病例，这些病例通过超声（US）和磁共振成像（MRI）进行诊断。我们发现产前 US 和 MRI 测量值小于产后测量值。对父母和胎儿的基因检测表明，GL12 基因突变可能与 CM 相关。
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