DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Retinitis Pigmentosa

MODERATE

A group of inherited retinal dystrophies causing progressive vision loss due to photoreceptor degeneration. Most common inherited retinal disease. Can be isolated or part of syndromes (Usher syndrome, Bardet-Biedl syndrome).

Global Affected

1.5M

Countries

15

Symptoms

Night blindness (nyctalopia)
Tunnel vision
Photopsia (light flashes)
Difficulty with color perception
Glare sensitivity
Progressive vision loss
Cataracts

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Variable progression. Legal blindness by age 40 in many cases. Some forms progress rapidly, others slowly. Cataracts common and treatable. No effect on lifespan.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Gene therapy (Luxturna for RPE65) approved. Vitamin A palmitate may slow progression. Retinal prosthetics (Argus II) available. CRISPR trials ongoing. Many gene-specific therapies in development.

Affected Countries

AustraliaBrazilCanadaChinaGermanySpainFranceUnited KingdomHungaryIsraelIndiaItalyJapanMexicoUnited States

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.