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Studies of Families With Hereditary Cataracts
This study has been completed.
Sponsored by: National Eye Institute (NEI)
Information provided by: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00001609
  Purpose

The objective of this study is to discover the genes responsible for the development of hereditary cataracts in families. A cataract is clouding of the lens of the eye that obstructs the passage of light and may impair vision. Information from this study may provide a better understanding of why hereditary cataracts form and perhaps lead to the development of a test that can predict who will likely be affected and to what degree.

Patients or family members of patients with inherited cataracts who participate in this study will be asked questions about their family history, especially concerning eye disease or cataracts, and a family tree will be drawn. They will undergo a complete eye examination, including photographs to document the clarity or opacity of the lens. In addition, a small blood sample will be drawn for use in gene mapping studies of inherited cataract.


Condition
Cataract
Congenital Anomaly

MedlinePlus related topics: Cataract
U.S. FDA Resources
Study Type: Observational
Official Title: Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 1200
Study Start Date: October 1996
Estimated Study Completion Date: March 2003
Detailed Description:

Although the etiology of some secondary cataracts is becoming better understood and certain animal models have the promise to elucidate the relationships between lens crystallin and hereditary cataract, little is known about the causes of congenital cataracts in humans. Even the classification of different types of cataracts is cumbersome and imperfect. A better understanding of cataractogenesis will come through an understanding of the molecular components of the lens of the eye and the ways in which lesions of these components are manifested structurally and functionally as opacity of the lens. It is well known that cataracts exhibit marked genetic heterogeneity. In mice and humans, hereditary cataracts have been shown to result from lesions at many distinct loci and those cataracts corresponding to one locus can be morphologically heterogeneous, implying that environmental factors may modify the phenotype of the cataract which a molecular lesion causes. Nonetheless, molecular biological characterization of cataracts in the mouse and guinea pig has suggested that alterations in lens crystallins can cause hereditary cataracts making them reasonable candidate genes for causing hereditary cataracts in humans. In addition, it is apparent that hereditary lesions which mimic or contribute additively to environmental stresses known to cause cataracts might be candidate genes for causing hereditary cataracts. This knowledge increases the feasibility of genetic linkage studies and provides a rationale basis on which to begin the molecular analysis of naturally occurring hereditary cataracts. Therefore, it is the purpose of this protocol to concentrate upon hereditary cataracts.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

The proband must have documentation of congenital or hereditary cataract.

Patients with cataract due to radiation, steroid, or associated with other ocular diseases such as uveitis, retinitis pigmentosa etc. and age-related cataracts will be excluded.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00001609

Locations
United States, Maryland
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

Publications:
Study ID Numbers: 970009, 97-EI-0009
Study First Received: November 3, 1999
Last Updated: March 3, 2008
ClinicalTrials.gov Identifier: NCT00001609  
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Linkage
Genetic Analysis
Lens
Opacity
Inherited
Linkage Analysis
Genomic DNA
Risk Prediction
Pedigree Analysis
Congenital Cataracts
Hereditary Cataracts

Study placed in the following topic categories:
Eye Diseases
Cataract
Lens Diseases
Congenital Abnormalities

ClinicalTrials.gov processed this record on January 15, 2009