Gene Therapy for Retinal Diseases Is Within Sight

Charles C. Wykoff, MD, PhD


May 07, 2014

In This Article

Expanding Gene Therapy Targets

Early results of gene therapy studies for inherited retinopathies are compelling; phase 1 human clinical trials have demonstrated safe and successful targeting of mutant genes involving the RPE (LCA2) and photoreceptors (choroideremia). If ongoing trials, including a phase 3 trial for LCA2 treatment, are successful, additional monogenic retinopathies will certainly be targeted as treatment horizons expand. Early results from local intraocular expression of specific therapeutic proteins through gene therapy are also promising.

Ideally, retinal gene therapy targets will be expanded to include multigenic diseases, such as dry AMD. Dry AMD has a substantial genetic component but many involved loci,[23] and the only current treatment options involve lifestyle modifications, such as smoking cessation,[24] cardiovascular risk factor optimization, and AREDS2 (Age-Related Eye Disease Study 2) vitamin supplementation[25] aimed at slowing disease progression.

The future is certainly bright when considering gene therapy for retinal diseases. Unfortunately, only the tip of the therapeutic iceberg is still visible today, with many challenges remaining. With continued development and refinement of these technologies and techniques, the clinical application of gene therapy vectors to treat a host of retinal diseases in the operating room, and even in the clinic, appears to be within sight.


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