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.

Condition
Cataract

This project, Clinical and Molecular Studies in Families with Congenital or Hereditary Cataracts, will study the inheritance of genetic cataracts, both Mendelian and complex age related cataracts, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause cataracts and the pathophysiology through which they act. The number of subjects to be enrolled has no logical upper limit, but will be at least 250. Because a number of large studies are under consideration, we are requesting approval to study a maximum of 2,000 patients and family members. The study consists of ascertaining individuals, and especially families with multiple individuals, affected by both congenital and age related cataracts. These patients and their families will undergo detailed ophthalmological examinations and, where indicated, additional non-investigational examinations to characterize their cataracts and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, physical mapping, and mutational screening will be carried out to identify the specific the gene and the mutations in it that are associated with cataracts in this family. If necessary, the gene product will be characterized biochemically. The principle investigator is James Fielding Hejtmancik at the OMGS/OGVFB/NEI. Associate investigators at the OGVFB/NEI include Dr. Muriel Kaiser and Dr. Benjamin Rubin. Associate investigators at collaborating institutions include Dr. S. Riazuddin (Centre for Excellence in Molecular Biology, Lahore, Pakistan), Dr. Giovanni Maraini (University of Parma, Italy), Dr. Nathan Congdon (Johns Hopkins University), and Dr. Carlos Lopez-Otin, Oviedo Medical School, Oviedo, Spain.

Genders Eligible for Study:  Both

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.

Maryland
      National Eye Institute (NEI), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  030123; 03-EI-0123
Record last reviewed:  August 11, 2004
Last Updated:  August 11, 2004
Record first received:  March 22, 2003
ClinicalTrials.gov Identifier:  NCT00056771
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2004-11-08