Journal Article

Intrauterine Cataract Diagnosis and Follow-up

Ciğercioğulları, Engin, Alanay, Yasemin, Aksay, Sevinç, Coşar, Cemile Banu, Bildirici, İbrahim

2020

Overview

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 [PLys252Arg]) 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 cataract. Keywords: Class 3 variant of uncertain significance (c755A>G [PLys252Arg]), congenital cataract, autosomal recessive inheritance

• Publisher: Galenos Yayinevi Tic. Ltd,Türk Oftalmoloji Derneği,Galenos Publishing House,Turkish Ophthalmology Society
• Subject: Amniocentesis / Analysis / Antibodies / autosomal recessive inheritance / Biochemistry / Cataracts / Chromosomes / class 3 variant of uncertain significance (c755a>g [p.lys252arg]) / Conflicts of interest / congenital cataract / Congenital diseases / Cytomegalovirus / Diagnostic imaging / Fetuses / Gene expression / Genetic aspects / Genetic counseling / Genetic disorders / Health aspects / Mutation / Pregnancy / Rubella / Tıp