Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)

Conditions

• Anophthalmia
• Coloboma
• Microphthalmia

Eligibility Criteria

Sex

ALL

Age

1 Year - 100 Years

Healthy Volunteers

Not accepted

Study Details

Background: \- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as "MAC". Several genes have been linked to MAC, but the cause of most causes are hard to find. Researchers want to study the genes of people who have MAC and genes from their close, unaffected relatives (such as parents and siblings). Objectives: \- To study the genes associated with MAC. Eligibility: \- Individuals at least 1 years of age who either have MAC or are an unaffected relative (such as a parent or sibling). Design: * Participants will have a physical exam and medical history. They will also have a full eye exam. * Participants with MAC may have other exams, such as imaging studies and hearing assessments. * All participants will also provide blood, cheek swab or saliva or DNA samples for genetic testing.

Key Dates

Start date

Jan 8, 2013

Status verified

Apr 2026

Primary completion

Dec 27, 2027

Study Design

Enrollment

600 participants (estimated)

Arms

• Arm: MAC
  Participants with MAC and their family members.

Primary Outcome Measure

The tests, data, and samples collected will be analyzed to better understand the genetics of MAC. [ Time Frame: end of study ]

Central Contacts

• Daniel W Claus, R.N.
  (301) 451-1621
  [email protected]

Locations (1)

Find similar trials in Bethesda, MD

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• Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
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