Looking Back on an Innovative Year in Ophthalmology

Ronald C. Gentile, MD; Tal Raviv, MD; Joseph F. Panarelli, MD; Richard B. Rosen, MD


December 29, 2014

In This Article

Gene Therapy for Ocular Diseases

By exploiting the ability of human viruses to enter cells, replacing genes has now become a reality in ophthalmology. A modified virus is used as a vector to transport the wanted gene into the affected cell. For some diseases, this has resulted in substantial breakthrough. Although adenovirus is the most common virus vector used, retrovirus and naked/plasmid DNA are also commonly used.

Approximately 2% of current gene therapy clinical trials are focused on ocular diseases,[19] primarily different types of retinal dystrophies (eg, Leber congenital amaurosis, choroideremia, Stargardt macular degeneration, Usher syndrome type 1B, MERTK mutation-associated retinitis pigmentosa). Other diseases include age-related macular degeneration, Leber hereditary optic neuropathy, corneal scarring, glaucoma, DME, and macular telangiectasia type 2.

Most of the ocular gene transfer studies have not reached phase 3 trials; a notable exception is RPE65 gene therapy for Leber congenital amaurosis. Replacing the RPE65 gene via a subretinal injection using adeno-associated virus vector has had promising results with improved visual and retinal function.[20]

Onward to 2015

In the field of ophthalmology, great strides were made in 2014. The proliferation of new therapies in the various subspecialties has enabled ophthalmologists to continue to improve the quality of life of their patients. As with all new technologies, their true ability to withstand the test of time will depend on the clinical experience within the greater community of ophthalmologists.


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