gelatinous drop-like Corneal dystrophy

A hereditary autosomal recessive corneal dystrophy characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, PHOTOPHOBIA, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair VISUAL ACUITY, and CORNEAL TRANSPLANTATION is required for most patients. Mutations in the TACSTD2 gene have been identified. OMIM: 204870

Also Known As:

Corneal dystrophy, gelatinous drop-like; Amyloid corneal dystrophy, Japanese type; Amyloidosis, corneal; Corneal Dystrophy, Lattice Type III; Corneal amyloidosis; Corneal dystrophy, Lattice type 3; Gelatinous drop-like corneal dystrophy; Lattice Corneal Dystrophy, Type III; Lattice corneal dystrophy type3; Primary familial amyloidosis of the cornea

Eye Diseases: 3620
- Corneal Diseases: 941
  - Hereditary Corneal Dystrophies: 830
    - gelatinous drop-like Corneal dystrophy: 63
- Hereditary Eye Diseases: 19
  - Hereditary Corneal Dystrophies: 830
    - gelatinous drop-like Corneal dystrophy: 63
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Familial Amyloidosis: 402
      - gelatinous drop-like Corneal dystrophy: 63
  - Hereditary Eye Diseases: 19
    - Hereditary Corneal Dystrophies: 830
      - gelatinous drop-like Corneal dystrophy: 63
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Proteostasis Deficiencies: 1476
    - Amyloidosis: 11961
      - Familial Amyloidosis: 402
        gelatinous drop-like Corneal dystrophy: 63
  - Inborn Errors Metabolism: 1183
    - Familial Amyloidosis: 402
      - gelatinous drop-like Corneal dystrophy: 63

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