Corneal dystrophy, gelatinous drop-like [Supplementary Concept]
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
Date introduced: August 25, 2010
MeSH Unique ID: C535480
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Entry Terms:
- Gelatinous drop-like corneal dystrophy
- Corneal amyloidosis
- Amyloidosis, corneal
- Amyloid corneal dystrophy, Japanese type
- Corneal dystrophy, Lattice type 3
- Lattice corneal dystrophy type3
- Primary familial amyloidosis of the cornea
- Corneal Dystrophy, Lattice Type III
- Lattice Corneal Dystrophy, Type III