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REPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies.

TitleREPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies.
Publication TypeJournal Article
Year of Publication2022
AuthorsPark, Jong G., Xu Christine L., Boyd Allison, Aghajanova Lusine, Mahajan Vinit B., and Wood Edward H.
Date Published2022 11 01
KeywordsChild, Eye Diseases, Hereditary, Female, Fertilization in Vitro, Humans, Ophthalmology, Pregnancy, Preimplantation Diagnosis, Retrospective Studies

PURPOSE: To propose a working framework for patients with inherited eye diseases presenting to ophthalmologists who are interested in assisted reproductive technology and preimplantation genetic testing.

METHODS: Retrospective chart review and case series of three families with inherited eye diseases who successfully underwent preimplantation genetic testing, in vitro fertilization, and birth of unaffected children.

RESULTS: Preimplantation genetic testing was performed for three families with different inherited eye diseases, which included autosomal dominant retinitis pigmentosa, autosomal recessive achromatopsia, and X-linked Goltz syndrome. Preimplantation genetic testing led to the identification of unaffected embryos, which were then selected for in vitro fertilization and resulted in the birth of unaffected children.

CONCLUSION: A close collaboration between patients, families, ophthalmologists, reproductive genetic counselors, and reproductive endocrinology and infertility specialists is the ideal model for taking care of patients interested in preimplantation genetic testing for preventing the transmission of inherited eye diseases.

Alternate JournalRetina
PubMed ID35963004
Grant ListP30 EY026877 / EY / NEI NIH HHS / United States