INHERITED RETINAL DISEASES

Inherited retinal diseases (IRDs) are a group of rare conditions caused by one of more than 220 different genes. Inherited retinal diseases affect individuals of all ages, with different types progressing at different rates, causing severe vision loss or even blindness. Common types of IRDs include:

  • Leber Congenital Amaurosis (LCA)
  • Retinitis Pigmentosa
  • Choroideremia
  • Stargardt's Disease
  • Achromatopsia

WHAT CAUSES INHERITED RETINAL DISEASES (IRDs)?

Inherited retinal diseases are caused by an ill-functioning gene (mutation). The lens of the eye allows light to pass through the transparent lens to the retina, which then sends these images to the brain for interpretation of sight. A variety of proteins keep the retina functioning. These proteins are made by the genes. When a gene is faulty, the protein being created is problematic, and the retina cannot function properly, resulting in a retinal disorder.


HOW ARE INHERITED RETINAL DISEASES DIAGNOSED?

Your ophthalmologist will be able to diagnose an inherited retinal disease. Knowing your diagnosis early is essential to prevent reversible complications. He may also do other tests to learn more about the structure and health of your eye.


HOW ARE INHERITED RETINAL DISEASES (IRDs) TREATED?

Genetic counselling can be offered for anyone diagnosed with an IRD. At the moment, treatment is not yet available; however, you may be able to participate in clinical trials.