Lattice corneal dystrophy type 1
- Corneal dystrophy, lattice type 1
Your QuestionI have lattice corneal dystrophy 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 interested in finding out more about genetic testing.
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Questions on this page
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. Currently, 8 clinical trials are identified as enrolling individuals with hereditary corneal dystrophies. 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.
In addition, ClinicalTrials.gov lists studies titled Potential Research Participants for Future Studies of Inherited Eye Diseases, Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases and Screening for Studies on Inherited Eye Diseases which may be of interest to you. To find these trials, click on the links above.
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
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.
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:
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
CRISP (Computer Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Currently, 1 project listed on CRISP involves lattice corneal dystrophy. Although this project may not conduct studies on humans, you may want to contact the investigator to learn more. To read about this study, click on the link below. In the 'enter search terms' box, enter 'lattice corneal dystrophy' and click the 'and' button below the box. Then click 'Submit Query.'
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.
An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. A person with only one gene mutation would not have the disease. These individuals are said to be "carriers." A child with an autosomal recessive disease inherits two copies of a gene mutation, one from each carrier parent. The chance that a sibling would also be affected is 25%. Click here to read more about gene mutations and how they can occur.
- Autosomal dominant. MedlinePlus. 2007; http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm. Accessed 6/13/2008.
- What is a gene mutation and how do mutations occur?. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation. Accessed 6/13/2008.
- Autosomal Recessive. MedlinePlus. 2007; http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm. Accessed 6/13/2008.