Corneal Dystrophy, Avellino Type malady
Genetic diseases, Rare diseases, Eye diseases categories
Aliases & Descriptions for Corneal Dystrophy, Avellino Type:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Rare eye diseases
Characteristics (Orphanet epidemiological data):51
avellino corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood
NIH Rare Diseases:45 Corneal dystrophy, avellino type is an inherited condition that affects the stromal or central layer of the cornea. it results in the development of small particles or granules (like breadcrumbs) on the cornea (known as granular corneal dystrophy) and the development of lesions that resemble cracked glass (known as lattice corneal dystrophy). these eye lesions usually develop on the stromal layer before age 20. as affected individuals age, the lesions may become larger, more prominent, and involve the entire stromal layer. some older individuals have decreased clarity of vision (decreased visual acuity) due to clouding of the cornea (opacity). recurrent erosions of the eye from the granules may develop in some cases.the first reported cases could be traced to the avellino region of italy, which is how this form of the condition was named. recent reports have described families from all around the world with this condition. the avellino type of corneal dystrophy is inherited in an autosomal dominant manner and is caused by mutations in the tgfbi gene. last updated: 4/7/2011
MalaCards based summary: Corneal Dystrophy, Avellino Type, also known as avellino corneal dystrophy, is related to corneal dystrophy and congenital dyserythropoietic anemia, and has symptoms including autosomal dominant inheritance, visual impairment and lattice corneal dystrophy. An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (Transforming Growth Factor, Beta-Induced, 68kDa). Affiliated tissues include eye.
OMIM:49 A number sign (#) is used with this entry because the Avellino type of corneal dystrophy (CDA) is caused by mutation in... (607541) more...
UniProtKB/Swiss-Prot:67 Corneal dystrophy, Avellino type: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision.
MalaCards organs/tissues related to Corneal Dystrophy, Avellino Type:33
UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Avellino Type:67
Clinvar genetic disease variations for Corneal Dystrophy, Avellino Type:5
Search GEO for disease gene expression data for Corneal Dystrophy, Avellino Type.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet