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According to the World Health Organisation, more than 2.2 billion people worldwide experience some form of vision impairment.
The causes range from cataracts and diabetic retinopathy to glaucoma, age-related macular degeneration, and inherited retinal diseases (IRDs)
New treatments like gene therapy and RNA-based therapies are emerging as potential solutions for IRDs.
Lack of sufficient research on genetic mutations causing IRDs in the Indian population is a major challenge.
Inherited Retinal Diseases (IRDs)
IRDs are genetic disorders that cause progressive vision loss, often leading to blindness.
They are caused by mutations in genes responsible for the retina's function.
Symptoms: Vision loss can occur early in life or progress gradually over time.
In India, prevalence is higher, especially in rural areas (1 in 372 in rural South India).
More than 300 genes are linked to IRDs.
Common Forms:
Retinitis Pigmentosa (RP) is the most common form.
Other forms include cone-cone rod degeneration, Leber congenital amaurosis, and inherited macular dystrophies.
Syndromic IRDs: Over 70 types of syndromic IRDs exist, with Usher syndrome being the most common.
New treatment options include:
Non-gene-based therapies like stem cell therapy and retinal implants.
Gene-based therapies (e.g., gene therapy, antisense oligonucleotides).
Mutation-specific treatments like read-through drugs.
Challenges:
Understanding the function of many IRD-related genes.
Developing more efficient genetic testing and bioinformatics tools for accurate diagnosis.
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