Ophthalmic genetics practice and research in India: Vision in 2020

Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):718-727. doi: 10.1002/ajmg.c.31827. Epub 2020 Aug 31.

Abstract

Ophthalmic genetics is a much needed and growing area in India. Ethnic diversity, with a high degree of consanguinity, has led to a high prevalence of genetic disorders in the country. As the second most populous country in the world, this naturally results in a significant number of affected people overall. Practice involves coherent association between ophthalmologists, genetic counselor and pediatricians. Eye genetics in India in recent times has witnessed advanced research using cutting edge diagnostics, next generation sequencing (NGS) approaches, stem cell therapies, gene therapy and genomic editing. This article will highlight the studies reporting genetic variations in the country, challenges in practice, and the latest advances in ophthalmic genetic research in India.

Keywords: India; eye genetics; genomics; precision medicine; stem cell therapy.

MeSH terms

  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / pathology
  • Eye Diseases, Hereditary / therapy
  • Genetic Research
  • Genome, Human / genetics
  • Genomics / trends
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • India / epidemiology
  • Ophthalmology / trends*
  • Precision Medicine*