Preimplantation Genetic Diagnosis for Stargardt Disease
published online 10 February 2010.
Purpose
To report the first use of in vitro fertilization (IVF) and preimplantation genetic diagnosis to achieve an unaffected pregnancy in an autosomal-recessive retinal dystrophy.
Design
Case report.
Methods
An affected male with Stargardt disease and his carrier wife underwent IVF. Embryos obtained by intracytoplasmic sperm injection underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of ABCA4 mutant alleles. Embryos were diagnosed as being either affected by or carriers for Stargardt disease. A single carrier embryo was implanted.
Results
Chorionic villus sampling performed during the first trimester verified that the fetus possessed only 1 mutant paternal allele and 1 normal maternal allele, thus making her an unaffected carrier of the disease. A healthy, live-born female was delivered.
Conclusion
IVF and preimplantation genetic diagnosis can assist couples with an affected spouse and a carrier spouse with recessive retinal dystrophies to have an unaffected child.
aDepartment of Ophthalmology, Columbia University, New York, New York
bCenter for Women's Reproductive Care, Columbia University, New York, New York
Inquiries to Mahsa A. Sohrab, BA, Columbia University, Edward S. Harkness Eye Institute, 160 Ft. Washington Ave, Rm. 412, New York, NY 10032
ABSTRACT