Fuchs endothelial corneal dystrophy

Title

Not a rare disease

Other Names:

FECD; Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy

Categories:

Congenital and Genetic Diseases; Eye diseases

Summary Summary

Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea.^[1] There are several forms of the disease according to the age of onset of the symptoms and the cause.

The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include:

Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13)
Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations)
Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene)
Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15)
Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene)
Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9)
Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene).

Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.^[2]

Last updated: 2/3/2016

Inheritance Inheritance

The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.^[3]

Last updated: 4/10/2014

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.

Research Research

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

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you.

Organizations Organizations

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

Cornea Research Foundation of America
9002 N. Meridian Street, Suite 212
Indianapolis, IN 46260
Telephone: 317-844-5610
Fax: 317-814-2806
E-mail: http://www.cornea.org/Contact.aspx
Website: http://www.cornea.org
Corneal Dystrophy Foundation
6066 McAbee Rd.
San Jose, CA 95120
Telephone: 1-866-807-8965
E-mail: contact@cornealdystrophyfoundation.org
Website: https://www.cornealdystrophyfoundation.org/support-groups
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: info@preventblindness.org
Website: http://www.preventblindness.org/

Organizations Providing General Support

National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Suite 500
Rockville, MD 20852
Telephone: +1-240-221-2905
E-mail: jamesj@eyeresearch.org
Website: https://www.eyeresearch.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.

Where to Start

The John’s Hopkins Medicine Web site has an information page on Fuchs’ dystrophy. Click on the link above to view this information page.
The MayoClinic.com provides information about Fuchs endothelial corneal dystrophy. Click on the above link to access this information.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Fuchs endothelial corneal dystrophy. This website is maintained by the National Library of Medicine.
The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
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.
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 Fuchs endothelial corneal dystrophy. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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. Submit a new question

I have been diagnosed with Fuchs dystrophy and I have two sons. Is there a genetic test for them to determine if they have the same condition? See answer
I was diagnosed with Fuch's dystrophy many years ago, but I think I may actually have lattice dystrophy. How can I find out for sure? See answer

Have a question? Contact a GARD Information Specialist.