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.
Affected Countries
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.