ID: 43

Disease Name: Corneal dystrophy, gelatinous drop-like

Description: 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.

Disease Type: Amyloidosis

ICD-10 Classification: Diseases of the Eye and Adnexa

Tissue: Eye

Cross References
http://apps.who.int/classifications/icd10/browse/2016/en#/H18

https://meshb.nlm.nih.gov/record/ui?ui=C535480

https://www.omim.org/entry/204870

https://www.ncbi.nlm.nih.gov/pubmed/9418728

https://www.ncbi.nlm.nih.gov/pubmed/27913443

Alternative Names:
Amyloid corneal dystrophy, Japanese type
Amyloidosis, corneal
Corneal Dystrophy, Lattice Type III
Corneal amyloidosis
Corneal dystrophy, Lattice type 3
Lattice Corneal Dystrophy, Type III
Lattice corneal dystrophy type3
Primary familial amyloidosis of the cornea 
Familial subepithelial corneal amyloidosis
CDGDL

Precursor Proteins:
P02788 | Lactotransferrin


Co-deposited Proteins:
P02649 | Apolipoprotein E
P10909 | Clusterin


Link to Amyloidosis: 
	No information available
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