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Inherited Retinal Diseases (IRDs)
Context
Vision plays a crucial role in navigating daily life, learning, working, and staying safe. However, over 2.2 billion people worldwide suffer from some form of vision impairment, with inherited retinal diseases (IRDs) being a leading cause.
What are Inherited Retinal Diseases (IRDs)?
- Inherited Retinal Diseases (IRDs) are a group of genetic conditions that cause progressive vision loss or blindness due to damage to the retina, the light-sensitive tissue at the back of the eye.
- These diseases are passed down from parents to their children through inherited gene mutations.
- The retina's primary role is to capture light and send visual signals to the brain.
- When mutations occur in the genes responsible for retinal function, it can lead to degeneration of the retina, affecting vision.
- Prevalence in India: India faces a higher prevalence of IRDs compared to the global average. For instance, in rural South India, one in 372 individuals is affected.
- Common IRDs include:
- Retinitis Pigmentosa: A group of diseases that cause the breakdown of the retina's cells, leading to gradual vision loss, often starting with night blindness.
- Stargardt Disease: A form of macular degeneration that usually affects children and causes central vision loss.
- Leber Congenital Amaurosis: A severe form of vision loss that typically manifests at birth or in infancy.
- Cone-Rod Dystrophy: A condition that affects both the central and peripheral vision, often leading to color blindness or light sensitivity.
- Treatment: Currently, there is no cure for most IRDs, but treatments like gene therapy and RNA-based therapies are showing promise in slowing or even halting disease progression.
- Despite global advances, there is limited awareness of gene therapy options like RPE65 gene therapy in India. While gene therapy is a breakthrough, it is not effective for all genetic conditions, paving the way for RNA-based therapies.
- RNA-based Therapies:
- RNA-based therapies, including antisense oligonucleotides (ASOs), are emerging as safer and more precise alternatives to gene therapy.
- These therapies make temporary changes at the RNA level without altering DNA, reducing the risk of long-term effects.
- ASO therapy is already successfully used for diseases like spinal muscular atrophy and Duchenne muscular dystrophy, and it is being explored for retinal conditions such as Stargardt disease and retinitis pigmentosa.
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