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Diseases

Genetic and Rare Diseases Information Center (GARD)

Amyloidosis corneal


Other Names for this Disease
  • Corneal amyloidosis
  • GDLD
  • CDGDL
  • Gelatinous drop-like corneal dystrophy
  • Corneal dystrophy, gelatinous drop-like
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have lattice corneal dystrophy type 1 and have had light sensitivity and astigmatism for a number of years Over the past 18 months my vision has become much worse. Is any current research going on that relates to lattice corneal dystrophy? Also, have there been any recent articles published in medical journals about this disease? Since there are no other cases of corneal dystrophy in my family, yet this is a genetic disease, I'm additionally interested in finding out more about genetic testing.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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: 5/16/2016

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: 5/16/2016

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.[1]

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: 5/16/2016

Is genetic testing available for lattice corneal dystrophy type 1?

Yes. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through Genetic Testing Registry do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view more information on genetic testing for lattice corneal dystrophy type 1, click here.  
Last updated: 5/16/2016

References
Other Names for this Disease
  • Corneal amyloidosis
  • GDLD
  • CDGDL
  • Gelatinous drop-like corneal dystrophy
  • Corneal dystrophy, gelatinous drop-like
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.