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: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Patients that meet diagnostic criteria for inherited cataracts and their family members will be recruited from the NEI and collaborating clinics.

Patients initially recruited under separate protocols may be added to this study if the informed consent documents they have signed include and are consistent with the procedure to be performed as part of this study and the patients have given consent for their samples to be used for future studies either unspecified or specific to cataracts.

Special Instructions: Currently Not Provided

Keywords:

Gene

Lens

Opacity

Crystallin

Inherited

Molecular

Genetics

Cataract

Mutation

Positional Cloning

Linkage

Recruitment Keywords:

Cataract

Congenital Cataracts

Hereditary Cataracts

Conditions:

Cataract

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

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

Citations:

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.

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