Article
Anophthalmia Caused by Familial Homozygous Mutation of VSX2: a Case Report.
Clinical laboratory - 1 Jun 2022
Wang Jing, Yu Mei-Ling, Xie Fu-Mei, Chen Lin-Jiao
Abstract excerpt
BACKGROUND: Although rare, several mutations in the gene VSX2 (visual system homeobox 2, formerly CHX10) have been associated with congenital autosomal recessive anophthalmia (absence of one or both eyes). This report describes a proband, who at presentation was gravida 2, para 0, and 30 weeks pregnant. METHODS: A 30-year-old woman with congenital bilateral anophthalmia was 30 weeks pregnant at the time of...
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