National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Corneal dystrophy Avellino type



Other Names:
CDA; Avellino corneal dystrophy; Granular-lattice (Avellino) corneal dystrophy; CDA; Avellino corneal dystrophy; Granular-lattice (Avellino) corneal dystrophy; Combined granular-lattice corneal dystrophies; Granular and lattice corneal dystrophies; Granular corneal dystrophy type 2 See More
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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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Lattice corneal dystrophy 0001149
Reduced visual acuity
Decreased clarity of vision
0007663
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Deposits are less numerous than in type I granular corneal dystrophy, and are sometimes lattice-like linear deposits and may superficially resemble lattice corneal dystrophy (see these terms). The features of GCD may be very similar to the corneal features of monoclonal gammopathies (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.


  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.