Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis.

doi:10.1016/j.jaapos.2017.12.007

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Article

Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2018

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

Abstract excerpt

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.

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.