Future gene and cell therapies for eye diseases
Patients suffering from the genetic disorders amaurosis and retinitis pigmentosa have mutations in a particular gene that causes loss of vision. These gene mutations can be corrected by the introduction of an extra gene. This gene therapy has been shown to be highly successful in animal models. The therapy will now be further refined and designed for use in humans.
A second class of eye afflictions is age related macular degeneration in which the retinal pigment epithelium (RPE) that provides support to the rods and cones is slowly, but surely, affected. Cell therapy can be used to treat this condition. Together with research groups in the United States, LUMC will design and bring to the clinic a cell therapy that replaces lost RPE.
What is the function of the eye and what diseases can afflict vision?
The eyes provide the ability to process visual detail. Like a photo camera, light intensity is regulated with the diaphragm (iris) and focus through adjustable lenses. Rod and cone cells in the retina allow light perception and colour differentiation. Images are converted into electrical signals that are transmitted to the brain through complex neural pathways that connect the eye via the optic nerve to the visual cortex and other areas of the brain.
Next to vision the eye is also involved in the regulation of the hormone melatonin and regulates the biological clock of the body. The eye has a front and a back formed by the cornea and the retina respectively; damage to both of these can cause impaired vision. Corneal impairment can be treated quite easily by a corneal transplant. Retinal damage is more difficult to treat and constitutes a wide variety of afflictions among which age related macular degeneration and a number of genetic defects.