Children with retinoblastoma living longer | Ophthalmology

“Everyone in this room has more than one genetic disease that he or she will transmit to his children. Every single one of us. Some of those genetic diseases will kill our progeny,” Abramson said.

One shift in management is the availability of preimplantation genetic diagnosis, which has been used worldwide in “hundreds and hundreds of children” since 2003, he said. In preimplantation genetic diagnosis, a fertilized in vitro embryo that does not have the gene that would develop

“When I finished my fellowship, there was not one child in the United States who would survive metastatic retinoblastoma,” he said. “It was a death sentence.”

Even though treatment is intensive — high-dose chemotherapy, radiation and bone marrow transplantation, all with long-term consequences — these children are being reported to survive 20 to 25 years beyond diagnosis, he said.

Because a percentage of deaths in the United States are attributed to diagnostic radiation, CT scans are no longer ordered in cases of suspected retinoblastoma. Neither are MRI and external beam radiation.

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