Clinical and Genetic Studies of Families With Congenital or Hereditary Cataracts

NCT00056771 | Completed

• 2 other identifiers: 03012303-EI-0123
• Study Type: observational
• Target: 3,432
• Locations: 5 countries
• Sites: 5

Brief 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.

Conditions

Cataract

Keywords

Cataract; Congenital Cataracts; Hereditary Cataracts

Outcome Measures

Primary Outcomes (1)

• statistically significant linkage

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Subjects with the following will be recruited:
• Individuals or family members of individuals with inherited cataracts, either congenital, childhood, or age related.
• Adults must be capable of providing their own consent.
• All subjects must be able to cooperate with study examination and phlebotomy.
• Older than 4 years of age.

You may not qualify if:

• Diseases, infections, or trauma that mimic inherited cataracts.
• Children requiring sedation for study procedures.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (5)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Zhongshan Ophthalmic Center

Guangzhou, China

Location

Aravind Eye Hospital

Maduri, India

Location

University of Parma

Parma, Italy

Location

Centre for Excellence in Molecular Biology

Lahore, Pakistan

Location

Related Publications (3)

• 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.

  PMID: 11951082 BACKGROUND

• 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.

  PMID: 12036992 BACKGROUND

• 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. doi: 10.1016/s0167-4781(01)00201-9.

  PMID: 11406268 BACKGROUND

MeSH Terms

Conditions

Cataract

Condition Hierarchy (Ancestors)

Lens Diseases; Eye Diseases

Study Officials

• James F Hejtmancik, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 22, 2003
• First Posted: March 24, 2003
• Study Start: March 18, 2003
• Study Completion: May 25, 2016
• Last Updated: April 5, 2018

Record last verified: 2016-05-25

Locations

IT (1); IN (1); CN (1); US (1); PA (1)