Clinical and Genetic Studies of Families With Congenital or Hereditary Cataracts

National Eye Institute (NEI) (NIH)
Overall Status
Completed ID
Duration (Months)
Patients Per Site
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or DiseaseIntervention/TreatmentPhase

    Detailed Description

    Objective: 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.

    Study Population: Families of many nationalities and ethnic backgrounds. We will study a maximum or 5,000 patients and family members.

    Design: 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 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 study will enroll subjects at NEI and collaborating institutions, the Centre for Excellence in Molecular Biology, Lahore, Pakistan, the Zhongshan Ophthalmic Center, Guangzhou, China, the Aravind Eye Hospital, Madurai, India, and the University of Parma, Italy and the All India Institute of Medical Sciences (AIIMS).

    Outcome Measures: Linkage will be determined using the lod score method and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, and molecular modeling. Biochemical, metabolic, and physiological effects will be individualized to the specific assay.

    Study Design

    Study Type:
    Actual Enrollment :
    3432 participants
    Observational Model:
    Time Perspective:
    Official Title:
    Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts
    Study Start Date :
    Mar 18, 2003
    Study Completion Date :
    May 25, 2016

    Outcome Measures

    Primary Outcome Measures

    1. statistically significant linkage []

    Eligibility Criteria


    Ages Eligible for Study:
    4 Years and Older
    Sexes Eligible for Study:
    Accepts Healthy Volunteers:
    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.

    1. Diseases, infections, or trauma that mimic inherited cataracts.

    2. Children requiring sedation for study procedures.

    Contacts and Locations


    SiteCityStateCountryPostal Code
    1National Institutes of Health Clinical Center, 9000 Rockville PikeBethesdaMarylandUnited States20892
    2Zhongshan Ophthalmic CenterGuangzhouChina
    3Aravind Eye HospitalMaduriIndia
    4University of ParmaParmaItaly
    5Centre for Excellence in Molecular BiologyLahorePakistan

    Sponsors and Collaborators

    • National Eye Institute (NEI)


    • Principal Investigator: James F Hejtmancik, M.D., National Eye Institute (NEI)

    Study Documents (Full-Text)

    None provided.

    More Information


    Responsible Party:
    National Eye Institute (NEI) Identifier:
    Other Study ID Numbers:
    • 030123
    • 03-EI-0123
    First Posted:
    Mar 24, 2003
    Last Update Posted:
    Apr 5, 2018
    Last Verified:
    May 25, 2016
    Keywords provided by National Eye Institute (NEI)
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Apr 5, 2018