Lattice corneal dystrophy type 1

What causes lattice corneal dystrophy type 1 (LCD1)?

LCD1 is a genetic disorder. It is caused by mutations in the TGFB1 gene. The TGFB1 gene provides instructions for making a protein, called TGFB1, which is found in many tissues of the body, including the cornea. TGFB1 is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration).

Last updated on 05-01-20

How is lattice corneal dystrophy type 1 inherited?

Lattice corneal dystrophy type 1 is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

If you are interested in learning more about the inheritance of lattice corneal dystrophy type 1 and risks for family members, we would recommend consulting with a genetic specialist. Click here to learn more about how to find a genetics clinic.

Last updated on 05-01-20

Are there any research studies enrolling people with lattice corneal dystrophy type 1?

Yes. 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. You may qualify for a number of current clinical trials. To find these trials, click on the link above and use 'corneal dystrophy' as your search term. After you click on a study, review its 'eligibility' criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov/

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
http://www.nlm.nih.gov/medlineplus/tutorials/cancerclinicaltrials/htm/lesson.htm

Last updated on 05-01-20

How can I find recent journal articles on lattice corneal dystrophy type 1?

You can find relevant journal articles on lattice corneal dystrophy through a service called PubMed, a searchable database of medical literature provided by the National Library of Medicine (NLM).

Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using 'lattice corneal dystrophy' as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles. Click here to begin your search.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated on 05-01-20

How might lattice corneal dystrophy type 1 be treated?

Treatment for lattice corneal dystrophy type 1 (LCD1) depends on the disease severity and the associated symptoms. Patching and soft contact lenses may be recommended for episodes of corneal erosion. Corneal transplant (i.e., penetrating keratoplasty) or phototherapeutic keratectomy may be an option for individuals with recurrent erosions and/or vision loss.

Last updated on 05-01-20

Name: Prevent Blindness America 211 West Wacker Drive, Suite 1700
Chicago, IL, 60606 , United States
Toll Free: 800-331-2020 Email: info@preventblindness.org Url: http://www.preventblindness.org/
Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: Cornea Research Foundation of America 9002 N. Meridian Street, Suite 212
Indianapolis, IN, 46260, United States
Phone: 317-844-5610 Fax : 317-814-2806 Email: http://www.cornea.org/Contact.aspx Url: http://www.cornea.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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