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

29548835

DOI

10.1016/j.jaapos.2017.12.007

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