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The inherited outer retinal dystrophies comprise a large number of disorders characterised by a slow and progressive retinal degeneration. They have been arbitrarily divided into macular dystrophies, retinitis pigmentosa (RP), and cone/rod dystrophies on the basis of their phenotype. They are the result of mutations in genes that are presumed to express in either the photoreceptor cells or the retinal pigment epithelium.1 Retinitis pigmentosa is believed to affect about one in 3500 of the population,2and the prevalence of remaining dystrophies is probably similar. The mode of inheritance can be autosomal dominant, autosomal recessive, X linked recessive,3 or digenic.4 5
With few exceptions such as α,β lipoproteinaemia6 7and Refsum disease,8 there is no treatment by which the primary disorder can be modified. Some symptomatic relief may be derived from cataract extraction,9 and carbonic anhydrase inhibition if there is macular oedema.10 Vitamin A supplementation may slow the progression although this has been the subject of controversy.11 12 Although there is no treatment by which the primary disorder can be manipulated, the patients can expect a reasonable account of visual prognosis, accurate genetic counselling, and support for rehabilitation. In addition, those affected are also keen to know the progress in research for a cure particularly as they have become progressively more aware of the potential for treatment through the various self help associations such as the British Retinitis Pigmentosa Society, the internet, and the press.
Researchers around the world are working on different potential therapeutic approaches to the problem. These are based on the possibility of modulation of cell death by growth factors, transfecting the photoreceptor or retinal pigment epithelial cell with functioning genes, transplanting photoreceptor or retinal pigment epithelial cells into the subretinal space, or the use of electronic devices to …
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