Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.

Abstract

BACKGROUND:

In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer.

MATERIAL AND METHODS:

Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease. Each family underwent genetic testing in order to identify the underlying disease-causing mutation. IVF and PGD treatment were performed; unaffected embryos were implanted in their respective mothers.

RESULTS:

Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 families each); and Hermansky-Pudlak syndrome, Leber congenital amaurosis, Norrie disease, papillorenal syndrome, primary congenital cataract, congenital glaucoma, Usher syndrome type 1F, and microphthalmia with coloboma (1 family each). Following a total of 88 PGD cycles, 18 healthy (i.e., unaffected) children were born.

CONCLUSIONS:

Our findings underscore the importance an ophthalmologist plays in informing patients regarding the options now available for using prenatal and preimplantation genetic diagnosis to avoid having a child with a potentially devastating genetic form of eye disease or ocular cancer. This strategy is highly relevant, particularly given the limited options currently available for treating these conditions.

• Authors: Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 39 Issue 4 Pg. 450-456 (08 2018) ISSN: 1744-5094 [Electronic] England
• PMID: 29781739 (Publication Type: Journal Article)

Topics

• Adult
• Eye Diseases, Hereditary (genetics, prevention & control)
• Female
• Fertilization in Vitro
• Genetic Predisposition to Disease (prevention & control)
• Genetic Testing
• Humans
• Male
• Microsatellite Repeats
• Preimplantation Diagnosis
• Prenatal Diagnosis
• Retrospective Studies
• Young Adult