Gene Therapy for Retinal Diseases Is Within Sight

Charles C. Wykoff, MD, PhD


May 07, 2014

In This Article

Advances in Vitreoretinal Disease Management

Many vitreoretinal pathologies have witnessed impressive advances in their management over the past decade. Most of these advances have involved pharmacologic innovation aimed at controlling exudative diseases of the retina, including neovascular age-related macular degeneration (AMD),[1,2,3] macular edema secondary to diabetic retinopathy,[4] and venous occlusive diseases.[5,6,7] These advances have relied upon a relatively simple treatment strategy: intraocular delivery of a pharmacologic agent by direct intravitreal injection with a needle advanced through the pars plana.

Other, more complex treatment approaches to vitreoretinal disorders have made substantial advances over the same period but have yet to make significant clinical impact. For example, remarkable progress has been achieved in both the use of retinal prosthetic systems[8] and stem cell delivery to treat retinal degeneration.[9] Finally, gene therapy is possibly the most targeted and exciting of these recent advances whose promise is just beginning to be manifest in the management of inherited retinal diseases.

Inherited Retinopathies

Inherited retinopathies are common blinding disorders that affect about 1 in 2000 people worldwide.[10] Most of these disorders currently have no available treatment options. Although the inherited retinopathies are phenotypically and genetically heterogeneous, with more than 150 causative mutations identified to date, most are monogenic, with a single genetic defect accounting for visual dysfunction. The causative genes are most commonly expressed in the photoreceptors and to a lesser extent in the retinal pigment epithelium (RPE).[11] Some of the most frequent and severe forms of inherited retinopathies include Leber congenital amaurosis, retinitis pigmentosa, Stargardt disease, and choroideremia.[11]


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