CRISPR gene editing clinical trials and treatment of congenital blindness

Labor congeniLeber Congenital Amaurosis (LCA)

  • Introduction: it 'Congenital Congenital Retinal Dystrophies A group of conditions that result in severe vision loss at an early age. (By 1 year of age in most cases)
  • symptoms: Nystagmus, inactive or almost absent pupillary reactions, severely reduced visual acuity, photophobia and high hyperopia.
  • Event: It affects about one in 40,000 people.
  • Reason: it Blindness is caused by a gene mutation that blocks a protein (CEP290), Which is important for vision.
  • Effect: LCA affects the function of 'rods & cones' in the eye.
    • 'Rods and cones' of the eye Retinal cells contain photoreceptors, Which convert light into images.
    • 'Rods' are better at seeing black and white, And enhances night vision, and 'Cones are better at absorbing colours.
  • Prevention: Genetic testing before pregnancy or prenatal testing can identify patients who are at risk of passing the condition to their offspring.

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