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Disease Profile
Fuchs endothelial corneal dystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
FECD; Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Fuchs endothelial corneal dystrophy (FECD) is an
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 (
- Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown
gene located inchromosome 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
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.
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
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Cornea Research Foundation of America
9002 N. Meridian Street, Suite 212
Indianapolis, IN 46260
Telephone: 317-844-5610
Fax: 317-814-2806
E-mail: https://www.cornea.org/Contact.aspx
Website: https://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: https://www.preventblindness.org/
Organizations Providing General Support
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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/
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.
References
- Fuchs’ dystrophy. MedlinePlus. September 2, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/007295.htm.
- Singh D. Fuchs Endothelial Dystrophy. Medscape Reference. August 19, 2014; https://emedicine.medscape.com/article/1193591-overview.
- Fuchs endothelial dystrophy. Genetics Home Reference. June 2011; https://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy. Accessed 4/10/2014.
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