Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis
Publication Date
2018
Journal Title
J AAPOS
Abstract
© 2018 American Association for Pediatric Ophthalmology and Strabismus 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.
Volume Number
22
Issue Number
3
Pages
240 - 242
Document Type
Article
Status
Faculty
Facility
School of Medicine
Primary Department
Ophthalmology
Additional Departments
Obstetrics and Gynecology, Pediatrics
PMID
DOI
10.1016/j.jaapos.2017.12.007
