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MUHC researcher unveils novel treatment for a form of childhood blindness
Date:7/13/2014

le. The retinoid cycle is one of the most important cycles in the human retina because it produces a molecule called 11-cis retinal which has the special capacity to capture light and initiate vision. Patients with RPE65 or LRAT mutations cannot produce this crucial molecule thus the retinal cells cannot create vision, and slowly die.

"By giving patients with RPE65 or LRAT mutations an oral retinoid intermediate (QLT091001) most patients' vision improved rapidly. 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," explains Dr. Koenekoop. "Contrary to what was previously thought, children with LCA and defects in RPE65 or LRAT are not born with dead retinal cells; the cells can simply go dormant, and they can remain dormant for years before they eventually die. The oral drug we tested awakened these cells and allowed patients to see."

Ten out of the 14 patients expanded their visual fields; others improved their visual acuity. The research team performed special brain scans of the visual cortex, which showed marked improvements in brain activities in patients who also improved in field size and acuity. More research will now be conducted to learn more about the retinal function in blind people in relation to dosage and methodology.

"This revolutionary breakthrough to restore sight in children who are blind shows that investing in vision research over the long-term really can make miracles happen," said Sharon Colle, President and CEO of The Foundation Fighting Blindness, the largest charity funding sight-saving research in Canada


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Contact: Julie Robert
public.affairs@muhc.mcgill.ca
514-843-1560
McGill University Health Centre
Source:Eurekalert  

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