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Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

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Abstract

Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000–8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner. To date 58 genes have been reported to associate with retinitis pigmentosa most of them are either expressed in photoreceptors or the retinal pigment epithelium. This review focuses on the disease mechanisms and genetics of retinitis pigmentosa. As retinitis pigmentosa is tremendously heterogeneous disorder expressing a multiplicity of mutations; different variations in the same gene might induce different disorders. In recent years, latest technologies including whole-exome sequencing contributing effectively to uncover the hidden genesis of retinitis pigmentosa by reporting new genetic mutations. In future, these advancements will help in better understanding the genotype–phenotype correlations of disease and likely to develop new therapies.

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  1. Clinical Research Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, Zhejiang, People’s Republic of China

    Muhammad Umar Ali, Muhammad Saif Ur Rahman & Jiang Cao

  2. Eye Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China

    Ping Xi Yuan

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Ali, M.U., Rahman, M.S.U., Cao, J. et al. Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech 7, 251 (2017). https://doi.org/10.1007/s13205-017-0878-3

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