Oral drug may cure a form of childhood blindness


Oral drug may cure a form of childhood blindnessToronto: A new oral medication is showing significant progress in restoring vision to patients having an inherited retinal disease which causes visual impairment ranging from reduced vision to complete blindness.

Until now, the disease called Leber Congenital Amaurosis (LCA) has been untreatable.

“This is the first time that an oral drug has improved the visual function of blind patients with LCA,” said the study’s lead author Robert Koenekoop from McGill University Health Centre (RI-MUHC) in Montreal, Canada.

“By giving patients with RPE65 or LRAT mutations an oral retinoid intermediate (QLT091001), most patients’ vision improved rapidly,” Koenekoop said.


“We discovered that a certain portion of the retinal cells that were not working because of the lack of 11-cis retinal could be woken up,” Koenekoop noted.

The study, published in The Lancet, involved 14 participants from around the world with LCA ranging in age from six to 38 years old.

Their blindness was caused by either mutations in the genes RPE65 or LRAT, leading to a serious defect in the retinoid cycle.

Ten out of the 14 patients expanded their visual fields; others improved their visual acuity.

“The drug changed my life,” Jargen who was enrolled in the MUHC study, along with others from North America, Europe, China and Brazil, said.

“My visual acuity and visual field increased significantly. I can now go by myself into a shopping centre or to the airport and even take the metro, which were unthinkable for me before. I hope many people can access the drug in a near future,” JArgen added.