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A novel method to prevent inherited congenital cataract using marsala

Poster Details

First Author: X.Li CHINA

Co Author(s):    J. Yang   C. Yang   H. Lv   M. Zhang   X. Jiang   R. Li     

Abstract Details


Congenital cataracts contribute to 5% to 20% of pediatric blindness worldwide. Pediatric cataract surgery, the most widely applied treatment, has some disadvantages in visual outcomes, postoperative complications, and treatment costs. This study aimed to explore a novel method to prevent the occurrence of the inherited congenital cataract.


Peking University Third Hospital


A couple from a family with inherited autosomal dominant congenital cataract underwent in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) to select a healthy embryo free of pathogenic gene and chromosome aneuploidy using mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA). Genetic analyses at the preimplantation stage using biopsied blastocysts, prenatal stage using amniotic fluid cells, and postnatal stage using umbilical cord blood were performed consecutively. The baby underwent neonatal cataract screening after birth.


The whole genetic analysis (WGA) of biopsied blastocysts was confirmed to be free of the c.584C>T mutation and aneuploidy at the preimplantation stage. The WGA of amniotic fluid cells at 18 weeks of the pregnancy also showed a mutation-free results. On November 29th, 2017, a baby boy was born and the WGA of umbilical cord blood cells reconfirmed the absence of the c.584C>T mutation, and the neonatal cataract screening showed no opacity or decentration of the bilateral lenses.


Surgical treatment showed unsatisfactory visual outcomes in patients with congenital cataracts. This is the first reported live birth with a successful blockage of the pathogenic gene of congenital cataracts, which avoided surgeries and further treatment and showed advantages in economics and quality of life. This study contributed to the prevention of avoidable blindness, and decreased the social burden.

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