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Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00265590
Recruitment Status : Completed
First Posted : December 14, 2005
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

This study will examine specific gene changes in patients with aniridia, a disease in which the iris (colored part of the eye) is absent or partially absent, and will correlate the changes with clinical manifestations of the disease. In aniridia, the eye often appears to have no color, but only a larger than normal pupil. Patients may have impaired vision and cataracts, glaucoma, nystagmus (rapid, involuntary eye movements), photophobia (light sensitivity), displaced lens, underdeveloped retina, and thickened cornea. This study will focus particularly on corneal changes.

Patients 4 years old and older with aniridia may be eligible for this study. Candidates are screened with a family history and complete eye examination, including the following:

  • Visual acuity testing using a vision chart.
  • Eye pressure measurement.
  • Fundus photography to examine the back of the eye: The pupils are dilated and special photographs of the inside of the eye are taken to evaluate the retina and measure changes that may occur over time. The camera flashes a bright light into the eye for each picture.
  • Slit lamp examination: Evaluation of the front part of the eye with a special microscope called a slit lamp biomicroscope.
  • Corneal thickness measurement.

Participants have blood drawn for genetic testing related to aniridia. Relevant medical information, including disease severity and complications, is obtained over time. Family members may also be requested to provide blood samples for genetic testing.

Condition or disease

Detailed Description:
This project, Phenotype-Genotype Correlation in aniridia, will study the specific mutations in patients with aniridia and attempt to make a phenotype-genotype correlation. Specifically, the study will determine whether specific mutations are more prevalent in aniridic patients who have a predominant involvement of the corneal epithelium. A blood sample will be collected from each individual for isolation of DNA and the PAX6 gene will be sequenced and analyzed. The principal investigator is Brian Brooks and the associated investigators are James Fielding Hejtmancik at the OMGS/OGVFB/NEI and Chi-Chao Chan, LI/NEI. Associate Investigators at collaborating institutions include Edward Holland (University of Cincinnati) and Ali Djalilian (University of Illinois, Chicago).

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Study Type : Observational
Enrollment : 100 participants
Official Title: Phenotype-Genotype Correlation in Aniridia
Study Start Date : December 7, 2005
Study Completion Date : October 3, 2008

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   4 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Patients that meet diagnostic criteria for aniridia will be recruited from the NEI and Collaborating clinics. While diagnosis of aniridia is not expected to create significant difficulty, every attempt will be made to document the clinical status of each family member included in the study, and to document the clinical syndrome in at least one affected individual by slit lamp photography. A total of 100 subjects will be recruited for this study. There are no specific exclusion criteria other than young age (less than 4 years old) which may pose difficulty in obtaining blood.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00265590

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United States, Illinois
University of Chicago
Chicago, Illinois, United States, 60637
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Ohio
University of Cincinnati
Cincinnati, Ohio, United States, 45267
Sponsors and Collaborators
National Eye Institute (NEI)

Layout table for additonal information Identifier: NCT00265590     History of Changes
Other Study ID Numbers: 060044
First Posted: December 14, 2005    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: October 3, 2008
Keywords provided by National Institutes of Health Clinical Center (CC):
Limbal Stem Cell Deficiency
Molecular Genetics
Additional relevant MeSH terms:
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Eye Abnormalities
Eye Diseases
Eye Diseases, Hereditary
Iris Diseases
Uveal Diseases
Congenital Abnormalities
Genetic Diseases, Inborn