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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is corneal dystrophy, Avellino type?

How might corneal dystrophy, Avellino type be treated?

What is corneal dystrophy, Avellino type?

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

How might corneal dystrophy, Avellino type be treated?

There is no cure for this condition and treatment usually focuses on alleviating symptoms, especially when vision becomes significantly impaired. Penetrating keratoplasty, which is a surgical procedure where a damaged or diseased cornea is entirely replaced by donated corneal tissue (graft), can improve vision at least temporarily but deposits tend to recur. LASIK eye surgery has been reported to exacerbate the number and density of the eye opacities. Patients treated with phototherapeutic keratectomy (PRK), which is a surgical procedure that uses a laser to remove tissue from the cornea, may do better and can retain corneal clarity for a decade or more.[2][3][4]
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.
  3. Han KE, Kim T et al.. Eye & Contact Lens. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20724852. Accessed 4/6/2011.
  4. Corneal dystrophy, Avellino type. Hereditary Ocular Disease. The University of Arizona. http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-avellino-type. Accessed 4/6/2011.


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.