Corneal Dystrophy, Avellino Type (CDA)

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Disease Ontology 12 DOID:0060444 OMIM 57 607541 MeSH 44 C535474 D003317 D028226 MESH via Orphanet 45 C535474 ICD10 via Orphanet 34 H18.5

UMLS via Orphanet 73 C1275685 Orphanet 59 ORPHA98963 MedGen 42 C1275685 UMLS 72 C1275685

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Corneal Dystrophy, Avellino Type, also known as avellino corneal dystrophy, is related to granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii and lattice corneal dystrophy, and has symptoms including glare - eye symptom An important gene associated with Corneal Dystrophy, Avellino Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include cornea and eye, and related phenotypes are reduced visual acuity and lattice corneal dystrophy

Disease Ontology : ¹² An corneal granular dystrophy that is characterized by recurrent erosions and stellate or "thorn-like" opacification located in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has material basis in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.

OMIM : ⁵⁷ A number sign (#) is used with this entry because of evidence that the Avellino type of corneal dystrophy (CDA) is caused by heterozygous mutation in the gene encoding keratoepithelin (TGFBI; 601692) on chromosome 5q31. Several other forms of autosomal dominant corneal dystrophy are caused by mutation in the TGFBI gene. (607541)

UniProtKB/Swiss-Prot : ⁷⁴ 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.

Clinical features from OMIM:

607541

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