MIAMI (CBS4) – Betti Lidsky has spent almost 20 years searching for the cause of her children’s loss of vision.
In 1992, three of four of Betti’s children were diagnosed with Retinitis Pigmentosa, or RP, partial vision loss that in some cases can lead to complete blindness. Lidsky said she and her husband, Carlos, both carried a recessive gene that was passed on to their children.
“Each child individually has a 1 in 4 chance of getting the two copies from the parents, so we didn’t do very well,” said Lidsky.
The couple was devastated, “my husband cried for a year and a half,” said Lidsky.
In their quest to identify the recessive gene, the Lidsky’s launched a nationwide campaign called Hope For Vision to raise funds for research, and turned to the UM Miller School of Medicine and the Hussman Institute for Human Genomics.
In July 2010, Lidsky said the family received good news.
“They said, ‘we found your gene’. We had to ask them, ‘are you telling us that you found our gene?’ they had to explain it to us, so we cried a lot.”
Researchers applied new technology known as exome sequencer. Dr. Byron Lam, professor of Ophthalmology at UM’s Miller School of Medicine, says it will give hope
“Now the new technique basically what it does is sequences all the DNA sequence that produces all the proteins in the body. You can sequence each individual. So this really gives hope to other families with Retinitis Pigmentosa, that we can find the gene that causes the condition,” said Dr. Lam.
Scientists gave the same mutation that caused blindness in the Lidsky children to zebra fish. To their surprise, the fish had partial vision loss too. The finding, however, doesn’t necessarily promise a cure.
Professor Lam said, “the goal then is to preserve the vision, to prevent it from getting worse. ”
Now adults, Isaac, a former law clerk for supreme court justice, Sandra Day O’Connor, and now father of triplets, succumbed to blindness four years ago.
Daria’s vision is very limited and Ilana’s is progressively declining. Lidsky says the family is hopeful that further research can help eradicate RP and preserve Ilana’s vision.
“She’s very anxious and hopes that the research moves quickly so they can still save her.” Lidsky added, “She still has photo receptors left.”