Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

Sylvia R Kodsi; Sara L Bristow; Joyce E Fox; Avner Hershlag

doi:10.1016/j.jaapos.2017.12.007

Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

J AAPOS. 2018 Jun;22(3):240-242. doi: 10.1016/j.jaapos.2017.12.007. Epub 2018 Mar 14.

Authors

Sylvia R Kodsi¹, Sara L Bristow², Joyce E Fox³, Avner Hershlag²

Affiliations

¹ Department of Pediatric Ophthalmology, Northwell Health Physican Partners at Great Neck, Great Neck, New York. Electronic address: skodsi@northwell.edu.
² Department of Reproductive Medicine, Northwell Health Physican Partners at Great Neck, Great Neck, New York.
³ Department of Genetics, Northwell Health Physican Partners at Great Neck, Great Neck, New York.

PMID: 29548835
DOI: 10.1016/j.jaapos.2017.12.007

Abstract

Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of a child born without Leber congenital amaurosis through preimplantation genetic testing to a couple who had a son with a homozygous mutation in the GUCY2D gene.

Publication types

Case Reports

MeSH terms

Adult
Consanguinity
Female
Fertilization in Vitro
Genetic Predisposition to Disease / prevention & control*
Genetic Testing*
Guanylate Cyclase / genetics
Humans
Leber Congenital Amaurosis / genetics
Leber Congenital Amaurosis / prevention & control*
Male
Pedigree
Preimplantation Diagnosis*
Prenatal Diagnosis
Receptors, Cell Surface / genetics
Young Adult
cis-trans-Isomerases / genetics

Substances

Receptors, Cell Surface
guanylate cyclase 1
retinoid isomerohydrolase
Guanylate Cyclase
cis-trans-Isomerases