Preimplantation genetic diagnosis for stargardt disease

Abstract

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.

Figure 1. Bilateral color fundus photographs of patient with Stargardt disease

The classic yellow-white flecks associated with Stargardt disease can be evidenced in both eyes, extending peripherally, along with pigmentary changes in the macula.

Figure 2. Bilateral autofluorescence images of patient with Stargardt disease

Increased levels of autofluorescence with peripapillary sparing can be noted bilaterally, characteristic of Stargardt disease.