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.
