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

Launched by NATIONAL EYE INSTITUTE (NEI) · Jan 26, 2013

Keywords

ClinConnect Summary

This clinical trial is focused on studying the genes related to certain eye conditions known as microphthalmia, anophthalmia, and uveal coloboma, collectively referred to as MAC. These conditions occur when the eye doesn’t develop properly during pregnancy, which can lead to various eye problems, including blindness. Researchers want to learn more about the genes involved in MAC by looking at samples from individuals affected by these conditions, as well as their close family members who do not have the conditions.

To be eligible for this study, participants need to be at least one year old and either have MAC or be a close relative, like a parent or sibling, of someone with MAC. Participants will undergo a physical exam, an eye exam, and may have additional tests depending on their condition. They will also provide a sample of blood, saliva, or a cheek swab for genetic testing. This study is currently recruiting participants of all genders, and it's important to know that pregnant women are not eligible to join the trial. Overall, this research aims to better understand MAC and help improve care for those affected by these eye conditions.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • The participant must be one year of age or older.
• • The participant must be able to cooperate with an age-appropriate eye examination or be able to provide a copy of a complete eye examination report.
• • The participant must be able to provide a blood, buccal/saliva, or DNA sample.
• • The participant must be able to understand and sign this protocol s informed consent form OR have a legal parent/guardian/representative with the ability to do the same.
• * The participant must either:
• • a. be affected by MAC(i) OR
• • b. be an asymptomatic relative of an affected individual.
• • (i) Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation co-segregating with MAC, or a rare or unique kidney finding).
• EXCLUSION CRITERIA:
• • Female participants who are pregnant are not eligible for enrollment. After giving birth, the female participant and/or a legal parent/guardian/representative may reach out regarding participation in the study.
• • Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study; however, non-NEI NIH employees may enroll in the study.