Intrauterine Cataract Diagnosis and Follow-up

Aksay S., BİLDİRİCİ İ., COŞAR C. B., ALANAY Y., Cigerciogullari E.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.50, no.4, pp.245-247, 2020 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.4274/tjo.galenos.2020.05014
  • Page Numbers: pp.245-247
  • Keywords: Class 3 variant of uncertain significance (c755A>G [P.Lys252Arg]), congenital cataract, autosomal recessive inheritance, CONGENITAL CATARACT, MUTATION
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes


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 cataract.