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...

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Autores principales: Song, Dongyu, Song, Hongxin, Zhou, Lixia, Sun, Congxin, Wu, Qingqing, Li, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951152/
https://www.ncbi.nlm.nih.gov/pubmed/31856529
http://dx.doi.org/10.4103/ijo.IJO_750_19
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author Song, Dongyu
Song, Hongxin
Zhou, Lixia
Sun, Congxin
Wu, Qingqing
Li, Dongmei
author_facet Song, Dongyu
Song, Hongxin
Zhou, Lixia
Sun, Congxin
Wu, Qingqing
Li, Dongmei
author_sort Song, Dongyu
collection PubMed
description 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.
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spelling pubmed-69511522020-01-16 Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents Song, Dongyu Song, Hongxin Zhou, Lixia Sun, Congxin Wu, Qingqing Li, Dongmei Indian J Ophthalmol Case Reports 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. Wolters Kluwer - Medknow 2020-01 2019-12-19 /pmc/articles/PMC6951152/ /pubmed/31856529 http://dx.doi.org/10.4103/ijo.IJO_750_19 Text en Copyright: © 2019 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Song, Dongyu
Song, Hongxin
Zhou, Lixia
Sun, Congxin
Wu, Qingqing
Li, Dongmei
Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
title Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
title_full Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
title_fullStr Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
title_full_unstemmed Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
title_short Prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
title_sort prenatal diagnosis of bilateral congenital microphthalmia in two fetuses from the same parents
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951152/
https://www.ncbi.nlm.nih.gov/pubmed/31856529
http://dx.doi.org/10.4103/ijo.IJO_750_19
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