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.
基金：
Capital's Funds for Health Improvement and Research [2018-2-2053]
第一作者机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China[2]Beijing Ophthalmol Visual Sci Key Lab, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China[3]Chaoyang Cent Hosp, Dept Ophthalmol, Chaoyang, Liaoning, Peoples R China
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China[2]Beijing Ophthalmol Visual Sci Key Lab, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China[6]Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Ultrasound, 251 Yaojia Yuan Rd, Beijing 100026, Peoples R China[*1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University and Beijing Ophthalmology Visual Science Key Lab, 1# Dong Jiao Min Xiang, Beijing ‑ 100730, China[*2]Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, 251# Yaojia Yuan Rd, Chaoyang District, Beijing ‑ 100026, China
推荐引用方式(GB/T 7714)：
Song Dongyu,Song Hongxin,Zhou Lixia,et al.Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents[J].INDIAN JOURNAL OF OPHTHALMOLOGY.2020,68(1):216-218.doi:10.4103/ijo.IJO_750_19.
APA：
Song, Dongyu,Song, Hongxin,Zhou, Lixia,Sun, Congxin,Wu, Qingqing&Li, Dongmei.(2020).Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents.INDIAN JOURNAL OF OPHTHALMOLOGY,68,(1)
MLA：
Song, Dongyu,et al."Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents".INDIAN JOURNAL OF OPHTHALMOLOGY 68..1(2020):216-218
