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      https://www.ias.ac.in/article/fulltext/jgen/097/01/0341-0352

    • Keywords

       

      retinal disease; retinitis pigmentosa; gene therapy; retinoid; clinical trial; stem cell; cell therapy

    • Abstract

       

      Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies. Therapeutic avenues that are being investigated for these disorders include genetherapy to replace the defective gene, treatment with neurotrophic factors to stimulate the growth of photoreceptors, cell replacement therapy, and prosthetic devices that can capture light and transmit electrical signals through retinal neurons to the brain. Several of these are in process of human trials in patients, and have shown safety and efficacy of the treatment. A combination of approaches that involve both gene replacement and cell replacement may be required for optimum benefit.

    • Author Affiliations

       

      CHITRA KANNABIRAN1 2 INDUMATHI MARIAPPAN1 3 2

      1. Kallam Anji Reddy Molecular Genetics Laboratory, Kallam Anji Reddy Campus, Hyderabad 500 034, India
      2. Prof Brien Holden Eye Research Centre, L. V. Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad 500 034, India
      3. Sudhakar and Sreekanth Ravi Stem Cell Laboratory and Centre for Ocular Regeneration, Kallam Anji Reddy Campus, Hyderabad 500 034, India
    • Dates

       
  • Journal of Genetics | News

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