J Biomed 2018; 3:68-73. doi:10.7150/jbm.27245 This volume


New insight into the genetics, developmental mechanism and therapeutic targets of Retinitis Pigmentosa

Luqman Khan1,✉, Qaisar Hanif2, Muhammad Usman3

1. Graduate School of Life Sciences, Tohoku University, Sendai, Japan
2. Department of Ophthalmology Allied Hospital, Medical University, Faisalabad, Pakistan
3. Department of Bioinformatics & Biotechnology, Government College University Faisalabad, Pakistan

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Khan L, Hanif Q, Usman M. New insight into the genetics, developmental mechanism and therapeutic targets of Retinitis Pigmentosa. J Biomed 2018; 3:68-73. doi:10.7150/jbm.27245. Available from /v03p0068.htm

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Hereditary degeneration of the human retina is genetically miscellaneous, with more than a hundred genes identified until now. Retinitis pigmentosa (RP) is a group of genetic retinal disorder which results in the degeneration of rods & cones photo-receptor. Retinitis pigmentosa is categorized by moon blindness and gradual loss of peripheral visualization, many time leads to thorough blindness. This disorder is both genetically and clinically heterogeneous. Retinitis pigmentosa could be linked with the syndromic disease as genes important for the retina also play the role in complementary tissues. Improvements in molecular genetics have delivered novel insights into the genes responsible and the pathogenic tools of retinitis pigmentosa. The inheritances of retinitis pigmentosa are multidimensional, and the disorder segregates following different kinds of transmissions. Treatments like gene therapy & stem cell treatment possibly will provide possible treatment probability for patients with retinitis pigmentosa.

Keywords: Retinitis pigmentosa, Genetic architecture, Retina, blindness