Retinitis pigmentosa

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Retinitis pigmentosa (RP) is a degenerative disorder typically affecting the retinal rod photoreceptors first, resulting in night-blindness, and progressive deterioration of the cones, often ending in blindness. The disease has a prevalence of about 1 in 4000 and considers a major cause of visual impairment under the age of 60. The discovery of multiple disease-causing genes starting from 1990 has contributed to an increasing knowledge of the retinal function. However, the genetic heterogeneity still makes it a complex isease with respect to the understanding of common underlying processes and the resulting lack of curative therapy. It's estimated that the multiple contributing genes identified so far represent 60-70% of the total number of genes that cause RP. The identification of remaining genes that cause RP or hereditary retinal diseases, as well as the identification of other factors that contribute to the severity of disease, remains important in order to extend our knowledge of the retinal processes. Although some developments with respect to therapy seem encouraging for the future, we must not forget today's patient. Symptoms of night blindness, tunnel vision, and low visual acuity may be helped by vision aids and adaptation strategies, usually provided by visual rehabilitation institutes.

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