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gelatinous drop-like corneal dystrophy

Disease Summary
Associated Targets (5)
Tbio

4

Tclin

1


GARD Rare
Mondo Description Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
Uniprot Description A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder 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.
Mondo Term and Equivalent IDs
MONDO:0008777:  gelatinous drop-like corneal dystrophy
GARD:0009647: 
MESH:C535480: 
NCIT:C142805: 
Orphanet:98957: 
UMLS:C0339273: