Purpose of review: Ocular gene therapy has made significant advances due to improvements in viral vector delivery methods. Recent clinical trials for the treatment of Leber's congenital amaurosis have provided evidence for successful in-vivo gene therapy in humans.
Recent findings: Gene therapy for ocular disease has been under investigation just over 15 years. Recently, the first human gene therapy trials for retinal degeneration were undertaken with encouraging preliminary safety and efficacy findings. Building on previous success in reversing blindness in animal models of Leber's congenital amaurosis, several groups proceeded with adeno-associated virus-mediated gene replacement. Many of the humans demonstrated increases in light sensitivity and in visual acuity. Subjective improvements in vision were corroborated in some cases by objective tests such as pupillary light response and nystagmography. Although much of the work in ocular gene therapy has involved retinal applications, significant progress has been seen in other aspects of ophthalmology.
Summary: Ongoing human clinical trials support the safety and efficacy of adeno-associated virus-mediated gene therapy for retinal disease. These and other studies will establish the foundation for methodology to treat additional ocular diseases using gene therapy strategies.