DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Fish Eye Disease

LOW SEVERITY

A rare disorder of HDL metabolism caused by LCAT deficiency. Named for corneal opacities that resemble fish eyes. Very low HDL cholesterol but milder than complete LCAT deficiency. Cardiovascular risk unclear.

Global Affected

500

Countries

15

Symptoms

Corneal opacities
Very low HDL
Mild anemia
No renal disease (unlike complete LCAT deficiency)

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

Corneal opacities progress slowly. Vision affected in middle age but rarely severely impaired. No systemic complications. Normal life expectancy.

Prevention

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

Research Status

No specific treatment. Corneal transplant if vision severely affected. Management of cardiovascular risk. Not as severe as complete LCAT deficiency. Observation typically sufficient.

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.