Intrauterine Cataract Diagnosis and Follow-up
Journal Title: Turkish Journal of Ophthalmology - Year 2020, Vol 50, Issue 4
Abstract
In this article, we report a 21-gestational-week fetus diagnosed with congenital cataract by ultrasonography. The parents decided to terminate the pregnancy and asked for examination of the fetus. An amniocentesis was performed for fetal karyotyping. After termination of the pregnancy, fetal autopsy was conducted. Whole exome sequencing (Trio-WES) analysis of the mother and father was done from peripheral blood samples. In the pathologic autopsy report, bilateral anterior and posterior subcapsular cataracts were confirmed. Whole exome sequencing analysis revealed a previously unreported class 3 variant of uncertain significance (c755A>G [P.Lys252Arg]) of the CRYBB1 gene, which is associated with congenital cataract, that was homozygous in the fetus and heterozygous in the parents. The obtained result is consistent with a genetic diagnosis of isolated autosomal recessive congenital cataract.
Authors and Affiliations
Sevinç Aksay, İbrahim Bildirici, Cemile Banu Coşar, Yasemin Alanay, Engin Ciğercioğulları
Keywords
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- EP ID EP688845
- DOI 10.4274/tjo.galenos.2020.05014
- Views 154
- Downloads 0
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