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Corneal dystrophy, gelatinous drop-like MeSH Supplementary Concept Data 2022


MeSH Supplementary
Corneal dystrophy, gelatinous drop-like
Unique ID
C535480
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535480
Entry Term(s)
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
Registry Number
0
Heading Mapped to
*Corneal Dystrophies, Hereditary
*Amyloidosis, Familial
Frequency
28
Note
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 of Entry
2010/08/25
Revision Date
2015/11/10
Corneal dystrophy, gelatinous drop-like Preferred
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