Inherited Blindness Treated with Gene Therapy

Researchers from the Institute of Ophthalmology at University College London in the UK have found a gene therapy treatment for a rare form of blindness called LCA. LCA, or Leber’s congenital amaurosis, occurs in patients shortly after birth and results in progressively worse vision, eventually leading to complete loss of sight. LCA is an inherited disease caused by a malfunction in the gene RPE65 and prevents photoreceptor cells in the retina from functioning properly. Robin Ali, professor at UCL, led the treatment trials and said that the project had two goals: to test whether gene therapy would be safe for patients suffering from retinal disease, and whether it would be able to improve vision in patients with advanced retinal disease. The treatment consisted of inserting functional copies of the RPE65 gene into retinal cells of patients using a vector (inactive form of a virus). Surgical techniques and a very fine needle were used to actually insert the vector. Out of the three patients treated with the healthy gene, one patient showed a significant increase in night vision. The treatment was also found to be completely safe with no harmful effects (which was significant since retinal tissue is very sensitive). According to Ali, this is a great accomplishment and will pave the way for future gene therapy treatments in other ocular diseases. Currently gene therapy is still an developing treatment and not widely available for most patients.

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