ID: 44

Disease Name: Corneal dystrophy Avellino type

Description: A hereditary autosomal dominant corneal dystrophy that is characterized by the development of small granules on the stromal layer of the cornea which later develop into lesions with a lattice-like appearance. The lesions increase in size with age and may lead to decreased visual acuity. Mutations in the TGFBI  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=C535474

https://www.omim.org/entry/607541

https://www.ncbi.nlm.nih.gov/pubmed/1454323

https://www.ncbi.nlm.nih.gov/pubmed/18243154

Alternative Names:
Avellino corneal dystrophy
Combined Granular-Lattice Corneal Dystrophy
Combined granular-lattice corneal dystrophies
Corneal Dystrophy, Avellino Type
Granular Corneal Dystrophy, Type II
Granular and lattice corneal dystrophies
Granular corneal dystrophy type 2
Granular-lattice (Avellino) corneal dystrophy 
ACD
CGD2

Precursor Proteins:
Q15582 | Transforming growth factor-beta-induced protein ig-h3


Co-deposited Proteins:
No information available



Link to Amyloidosis: 
	No information available
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