Why in the News?

Researchers have created a gene-editing tool to fix ABCA4 gene mutations, offering hope for treating Stargardt disease, a rare condition that causes progressive vision loss.

What is Stargardt Disease?

• Stargardt Disease is a rare inherited eye disorder that causes progressive vision loss, primarily affecting the central part of the retina, called the macula.
• It is typically caused by mutations in the ABCA4 gene, which disrupts the body’s ability to use Vitamin A, leading to an excessive buildup of lipofuscin (yellowish-brown pigment) in retinal cells.
• The disease commonly begins in childhood or early adulthood and is usually bilateral, involving both eyes.
• Currently, there is no cure for Stargardt Disease.

Symptoms of Stargardt Disease

• Progressive vision loss, particularly affecting central vision.
• Difficulty seeing in low light (night blindness).
• Blurred or distorted vision, with colors appearing less vivid.
• Appearance of dark spots or areas of vision loss in the central visual field.
• Gradual deterioration of visual acuity, leading to potential legal blindness.

Present Scenario in India

• According to a 2023 study by L.V. Prasad Eye Institute, Hyderabad:
  • The disease predominantly affects males and typically manifests during the second decade of life.
  • Estimated prevalence: 1 in 8,000 to 10,000 individuals.
  • 10.79% of patients had a family history of Stargardt disease, while 10.69% were from consanguineous marriages.
• In India, Stargardt disease is a not uncommon hereditary condition, with limited treatment options available.

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