Family Studies of Uveal Coloboma

NCT00368004 | Terminated

• 2 other identifiers: 06023006-EI-0230
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder. Adults and children who have more than one member of the family with uveal coloboma may be eligible for this study. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated. To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission.

Conditions

Coloboma

Keywords

Coloboma; Genetics; Optic Nerve Coloboma; Chorioretinal Coloboma; Iris Coloboma; Uveal Coloboma

Eligibility Criteria

• Age: Up to 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• The participant must have any recognizeable form of inherited coloboma.
• The participant must be a genetically informative member of a family where more than one person is affected by typical uveal coloboma.
• The participant must be able to comply with the protocol and provide a blood sample.

You may not qualify if:

• \. The participant has any syndromic form of coloboma likely due to mutations in a known gene.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Maumenee IH, Mitchell TN. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123-32; discussion 133-5. No abstract available.

  PMID: 2095017 BACKGROUND

• Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. Am J Med Genet. 1997 Oct 17;72(2):227-36. doi: 10.1002/(sici)1096-8628(19971017)72:23.0.co;2-p.

  PMID: 9382148 BACKGROUND

• Zlotogora J, Legum C, Raz J, Merin S, BenEzra D. Autosomal recessive colobomatous microphthalmia. Am J Med Genet. 1994 Feb 1;49(3):261-2. doi: 10.1002/ajmg.1320490302.

  PMID: 8209881 BACKGROUND

MeSH Terms

Conditions

Coloboma; Coloboma of optic nerve

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Eye Diseases, Hereditary; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Brian P Brooks, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: August 23, 2006
• First Posted: August 24, 2006
• Study Start: July 28, 2006
• Study Completion: April 15, 2013
• Last Updated: December 17, 2019

Record last verified: 2013-04-15

Locations

US (1)