Preimplantation genetic diagnosis for stargardt disease.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Department of Ophthalmology, Columbia University, New York, NY 10032, USA. ms2209@columbia.edu
Mahsa A
MA
Sohrab
Rando
R
Allikmets
Michael M
MM
Guarnaccia
R Theodore
RT
Smith
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005307:Fertilization in Vitro; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D020554:Sperm Injections, Intracytoplasmic
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters