Corneal dystrophy Fuchs endothelial 1

Genetic and Rare Diseases Information Center (GARD)

Fuchs endothelial corneal dystrophy 1
FECD1
Corneal dystrophy Fuchs endothelial early-onset
Early-onset Fuchs endothelial corneal dystrophy
Fuchs' endothelial dystrophy type 1

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Corneal dystrophy Fuchs endothelial 1
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Fuchs' dystrophy 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]

References

Fuchs’ dystrophy. MedlinePlus. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/007295.htm . Accessed May 29, 2009.

Questions & Answers (Found 1 Question)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the 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? ( Click here for answer)

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More Detailed Information	NLM Gateway	Services	Scientific Conferences	Support Groups	Clinical Trials & Research


More Detailed Information (Found 8 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates General eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free. The John’s Hopkins Medicine Web site has an information page on Fuchs’ dystrophy. Click on the link above to view this information page. MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information. 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 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. The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Corneal dystrophy Fuchs endothelial 1. Click on the link to go to OMIM and review these resources. Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic. PubMed is a searchable database of medical literature and lists journal articles that discuss Corneal dystrophy Fuchs endothelial 1. Click on the link to view a sample search on this topic.

More Detailed Information (Found 8 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

General
- eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The John’s Hopkins Medicine Web site has an information page on Fuchs’ dystrophy. Click on the link above to view this information page.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- 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 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.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Corneal dystrophy Fuchs endothelial 1. Click on the link to go to OMIM and review these resources.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Corneal dystrophy Fuchs endothelial 1. Click on the link to view a sample search on this topic.


NLM Gateway (Found 1 resource) A tool to search across multiple resources offered on the National Library of Medicine's Website NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.


Services (Found 1 resource) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories Parent Resources The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

Parent Resources
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.


Scientific Conferences (Found 1 resource) Resources where you can find information on completed and upcoming scientific conferences and programs Past Conferences VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010 Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Scientific Conferences (Found 1 resource)
Resources where you can find information on completed and upcoming scientific conferences and programs

Past Conferences
- VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
  Location: Palais Rouge Convention Center, Palermo, Buenos Aires
  Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Disease-Specific Organizations \| Umbrella Organizations \| Social Media/Blogs \| Parent Matching Organizations
Support Groups (Found 13 resources) Groups providing a wide range of services, supportive resources, and information Disease-Specific Organizations Foundation Fighting Blindness 7168 Columbia Gateway Drive, Suite 100 Columbia, MD 21046 Toll-free: 1-800-683-5555 Telephone: 410-423-0600 (local) TDD: 800-683-5551 E-mail: info@fightblindness.org Web site: www.blindness.org Cornea Research Foundation of America 9002 N. Meridian Street, Suite 212 Indianapolis, IN 46260 Telephone: 317-844-5610 Fax: 317-814-2806 Web site: http://www.cornea.org Corneal Dystrophy Foundation 6066 McAbee Rd. San Jose CA 95120 Telephone: 866-807-8965 E-mail: execdir@cornealdystrophyfoundation.org Web site: http://www.cornealdystrophyfoundation.org American Academy of Ophthalmology P.O. Box 7424 San Francisco, CA 94120-7424 Telephone: 415-56-8500 Fax: 415-561-8533 Web site: http://www.aao.org/ Prevent Blindness America 211 West Wacker Drive, Suite 1700 Chicago, Illinois 60606 Toll-free: 1-800-331-2020 Web site: http://www.preventblindness.org/ National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400 Rockville, MD 20852 Telephone: 240-221-2905 Fax: 240-221-0370 E-mail: jamesj@eyeresearch.org/ Web site: http://www.eyeresearch.org/ Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Media/Blogs DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ MUMS National Parent to Parent Network 150 Custer Court Green Bay, WI 54301 Toll-free: 1-877-336-5333 Telephone: 920-336-5333 Fax: 920-339-0995 E-mail: mums@netnet.net Web site: http://www.netnet.net/mums/

Disease-Specific Organizations | Umbrella Organizations | Social Media/Blogs | Parent Matching Organizations

Support Groups (Found 13 resources)
Groups providing a wide range of services, supportive resources, and information

Disease-Specific Organizations
- Foundation Fighting Blindness
  7168 Columbia Gateway Drive, Suite 100
  Columbia, MD 21046
  Toll-free: 1-800-683-5555
  Telephone: 410-423-0600 (local)
  TDD: 800-683-5551
  E-mail: info@fightblindness.org
  Web site: www.blindness.org
- Cornea Research Foundation of America
  9002 N. Meridian Street, Suite 212
  Indianapolis, IN 46260
  Telephone: 317-844-5610
  Fax: 317-814-2806
  Web site: http://www.cornea.org
- Corneal Dystrophy Foundation
  6066 McAbee Rd.
  San Jose CA 95120
  Telephone: 866-807-8965
  E-mail: execdir@cornealdystrophyfoundation.org
  Web site: http://www.cornealdystrophyfoundation.org
- American Academy of Ophthalmology
  P.O. Box 7424
  San Francisco, CA 94120-7424
  Telephone: 415-56-8500
  Fax: 415-561-8533
  Web site: http://www.aao.org/
- Prevent Blindness America
  211 West Wacker Drive, Suite 1700
  Chicago, Illinois 60606
  Toll-free: 1-800-331-2020
  Web site: http://www.preventblindness.org/
- National Alliance for Eye and Vision Research (NAEVR)
  1801 Rockville Pike, Suite 400
  Rockville, MD 20852
  Telephone: 240-221-2905
  Fax: 240-221-0370
  E-mail: jamesj@eyeresearch.org/
  Web site: http://www.eyeresearch.org/
Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Media/Blogs
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- MUMS National Parent to Parent Network
  150 Custer Court
  Green Bay, WI 54301
  Toll-free: 1-877-336-5333
  Telephone: 920-336-5333
  Fax: 920-339-0995
  E-mail: mums@netnet.net
  Web site: http://www.netnet.net/mums/


Clinical Trials & Research (Found 3 resources) Resources where you may find research studies and clinical trials 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. To find this trial, click on the link above. NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

- 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. To find this trial, click on the link above.
- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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