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Inherited Retinal Diseases (IRDs) UPSC NOTE

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  Why in news According to the World Health Organisation , more than 2.2 billion people worldwide experience some form of vision impairment....

 Why in news

  • 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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Learnerz IAS | Concept oriented UPSC Classes in Malayalam: Inherited Retinal Diseases (IRDs) UPSC NOTE
Inherited Retinal Diseases (IRDs) UPSC NOTE
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Learnerz IAS | Concept oriented UPSC Classes in Malayalam
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