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Research into the molecular and genetic basis of disease is continually expanding and improving the prospects for rational treatments. Of these, gene therapy (here defined as the introduction of genetic material into human cells) may ultimately offer the greatest scope.1 This article provides a perspective on the potential for gene therapy for treating inherited retinal degenerations, along with an outline of progress and problems encountered to date. Of the inherited forms of retinal degeneration, retinitis pigmentosa (RP) is the best characterised (see Bird2 for review). Seven different non-syndromic RP genes have been identified to date, five of which3-7 are expressed exclusively in photoreceptor cells. However, photoreceptors and retinal pigment epithelial (RPE) cells are in close proximity and are interdependent. Defects in genes expressed in the RPE may also result in retinal degeneration. Delivery to these tissues of either normal copies of the defective genes or genes which enhance cell survival may arrest the degenerative process and thus preserve vision.
THE EYE AS TARGET ORGAN FOR GENE DELIVERY
The eye has a number of advantages as a target organ for gene delivery. It is easily accessible and the tissues may be examined in vivo by ophthalmoscopy. In addition, there are blood-retinal and blood-aqueous barriers which may concentrate vectors in the target area and reduce their spread out of the eye. The eye may be used for testing gene delivery to a wide range of tissues since it contains endothelium (cornea), epithelium (cornea, ciliary body, iris), muscle (ciliary body), and neurons (retina). It may also serve as a valuable model system to test gene therapy strategies for the brain, whose neurons are more difficult to target than those in the neuroretina.
SCOPE OF GENE THERAPY TO TREAT OCULAR DISORDERS
It is probable that gene therapy for certain ocular diseases will be realised sooner than others. Gene therapy strategies for cancers (for example, uveal melanoma), infections …
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