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Corneal dystrophy Avellino type


Other Names for this Disease

  • Avellino corneal dystrophy
  • CDA
  • Combined granular-lattice corneal dystrophies
  • Granular and lattice corneal dystrophies
  • Granular corneal dystrophy type 2
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Overview

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.[1][2]

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.[1][2]
Last updated: 4/7/2011

References

  1. Corneal Dystrophies. National Organization for Rare Disorders (NORD). Accessed 4/6/2011.
  2. Corneal dystrophy, Avellino type. Online Mendelian Inheritance of Man (OMIM). June 2009; http://www.ncbi.nlm.nih.gov/omim/607541. Accessed 4/6/2011.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Corneal dystrophy Avellino type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Avellino corneal dystrophy
  • CDA
  • Combined granular-lattice corneal dystrophies
  • Granular and lattice corneal dystrophies
  • Granular corneal dystrophy type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.