Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia

NCT00265590 | Completed

• 2 other identifiers: 06004406-EI-0044
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 3

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.

Conditions

Aniridia

Keywords

Aniridia; PAX6; Keratopathy; Limbal Stem Cell Deficiency; Molecular Genetics

Eligibility Criteria

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

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (3)

University of Chicago

Chicago, Illinois, 60637, United States

Location

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

University of Cincinnati

Cincinnati, Ohio, 45267, United States

Location

Related Publications (3)

• Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x.

  PMID: 6330922 BACKGROUND

• Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol. 1977 May;83(5):718-24. doi: 10.1016/0002-9394(77)90139-8.

  PMID: 868970 BACKGROUND

• Mintz-Hittner HA, Ferrell RE, Lyons LA, Kretzer FL. Criteria to detect minimal expressivity within families with autosomal dominant aniridia. Am J Ophthalmol. 1992 Dec 15;114(6):700-7. doi: 10.1016/s0002-9394(14)74048-6.

  PMID: 1463039 BACKGROUND

MeSH Terms

Conditions

Aniridia; Limbal Stem Cell Deficiency

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Eye Diseases, Hereditary; Iris Diseases; Uveal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Corneal Diseases

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: December 14, 2005
• First Posted: December 14, 2005
• Study Start: December 7, 2005
• Study Completion: October 3, 2008
• Last Updated: July 2, 2017

Record last verified: 2008-10-03

Locations

US (3)