Updated Retinal Bulletin

Advances in retinal research and cures.

Gene Therapy for Choroideremia

Robert E. MacLaren from Oxford, England has published an article in The Lancet, January 2014, describing the results of six patients who received gene therapy for choroideremia.

The initial results of the retinal gene therapy showed improved rod and cone function. In all patients over six months, there was an increase in retinal sensitivity in the treated eyes that correlated with the vector dose of the gene therapy.

The study assessed the effects of an adeno-associated virus (AAV) vector encoding REP1 (AAV.REP1) in patients with choroideremia. Choroideremia is an x-linked recessive disease that causes blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).

The findings warrant further assessment of gene therapy in choroideremia, age-related macular degeneration, retinitis pigmentosa, and Stargardt’s disease.