Open AccessPrenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
Author(s) -
Dongmei Song,
Hongxin Song,
Lixia Zhang,
Congxin Sun,
Qin Wu,
Dongmei Li
Publication year - 2020
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_750_19
Subject(s) - microphthalmia , medicine , fetus , magnetic resonance imaging , prenatal diagnosis , pregnancy , ultrasonography , orbit (dynamics) , anatomy , obstetrics , radiology , gene , genetics , engineering , biology , aerospace engineering
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.