| |
Protocol Number:
03-EI-0123
- Title:
Clinical and Molecular Studies in Families with Congenital or Hereditary Cataracts
- Number:
03-EI-0123
- Summary:
This study will explore the clinical and hereditary (genetic) features of inherited cataracts. A cataract is a clouding of the eye lens, which focuses light on the back of the eye. When the lens becomes cloudy and does not let light through, vision is impaired. Cataracts may be associated with vision problems alone, or with other problems, such as changes in facial appearance or skin problems. A better understanding of these genetic conditions may help in the development of better diagnostic tests.
Patients with inherited cataracts and their family members may be eligible for this study. Participants will be drawn from patients enrolled in other studies of inherited cataracts at the NEI and collaborating clinics.
Participants will undergo the following tests and procedures:
- Medical and surgical history;
- Verification of diagnosis;
- Construction of a family tree regarding familial vision problems;
- Complete eye examination, including dilation of the pupils and photography of the lens, tests of color vision and field of vision, and of the ability to see in the dark;
- Blood sample collection (20 ml, or 4 teaspoons) for genetic studies of hereditary cataracts.
- Sponsoring Institute:
-
National Eye Institute (NEI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
Patients with inherited or age-related cataracts and their family members will be recruited from the NEI and collaborating clinics.
INCLUSION CRITERIA:
Subjects with the following will be recruited:
1. Individuals or family members of individuals with
inherited cataracts, either congenital, childhood, or age related.
2. Adults must be capable of providing their own consent.
3. All subjects must be able to cooperate with study examination and phlebotomy.
4. Older than 4 years of age.
EXCLUSION CRITERIA:
1. Diseases, infections, or trauma that mimic inherited cataracts.
2. Children requiring sedation for study procedures.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Gene
-
Lens
-
Opacity
-
Crystallin
-
Inherited
-
Molecular
-
Genetics
-
Cataract
-
Mutation
-
Positional Cloning
-
Linkage
- Recruitment Keyword(s):
-
Cataract
-
Congenital Cataracts
-
Hereditary Cataracts
- Condition(s):
-
Cataract
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Eye Institute
- Contact(s):
-
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793
Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
-
Ostrovsky MA, Sergeev YV, Atkinson DB, Soustov LV, Hejtmancik JF. Comparison of ultraviolet induced photo-kinetics for lens-derived and recombinant beta-crystallins. Mol Vis. 2002 Mar 20;8:72-8.
-
Sheets NL, Chauhan BK, Wawrousek E, Hejtmancik JF, Cvekl A, Kantorow M. Cataract- and lens-specific upregulation of ARK receptor tyrosine kinase in Emory mouse cataract. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1870-5.
-
Chen WV, Fielding Hejtmancik J, Piatigorsky J, Duncan MK. The mouse beta B1-crystallin promoter: strict regulation of lens fiber cell specificity. Biochim Biophys Acta. 2001 May 28;1519(1-2):30-8.
If you have:
Search The Studies | Help | Questions |
Clinical Center Home | NIH Home
 National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/15/2008
|
|
