Leber’s congenital amaurosis is a very rare hereditary disease wherein the retinal photoreceptors (rods and cones) are not operational. As a result, children with the disease are nearly blind at birth.
Leber's congenital amaurosis is the first disease in ophthalmology where Leber implemented a new form of therapy that interferes directly with the genetic material of the infected cell. This is called gene therapy.
The purpose of gene therapy is to replace the pathologic genes causing the disease with normal ones. This method includes injecting into the retina (in surgery conditions) specially modified inactive viruses in which normal genes have been placed. Gene therapy is a new, very promising method capable of halting or even reversing the course of the disease.
The number of eye diseases that appear to have a genetic background is constantly increasing and the results of gene therapy is increasingly encouraging. It is certain that in the near future ocular genetics will become one of the most important diagnostic and therapeutic tools of ophthalmology, offering radical therapies even for diseases hitherto considered incurable.