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Inherited Retinal Disease
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Collaboration key for preimplantation genetic testing for inherited eye diseases

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A multidisciplinary collaboration between ophthalmologists, reproductive genetic counselors, and reproductive endocrinology and infertility specialists in addition to a close partnership with patients and families is the ideal model when caring for patients interested in preimplantation genetic testing for the prevention of the transmission of inherited eye diseases.

In this retrospective chart review and case series, 3 families with inherited eye diseases underwent preimplantation genetic testing, in vitro fertilization, and birth of unaffected children. Inherited eye diseases included autosomal dominant retinitis pigmentosa, autosomal recessive achromatopsia, and X-linked Goltz syndrome.

Each family had successful preimplantation genetic testing which led to the identification of unaffected embryos which were used for in vitro fertilization, leading to the birth of children with no inherited eye diseases.

Reference
Park JG, Xu CL, Boyd A, et al. Reproductive Ophthalmology: The Intersection of Inherited Eye Diseases and Reproductive Technologies. Retina. 2022;doi: 10.1097/IAE.0000000000003591. Epub ahead of print. PMID: 35963004.

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