Evaluation of Genetic Mutations in African American with Glaucoma Associated with Long Anterior Zonules (LAZ)
Weiming Mao
Principal Investigator
Brief Description
What is the purpose of this study?
Long anterior zonules (LAZ) is the presence of the zonular fibers (a tissue that holds the lens in place) attaching to the anterior part of the lens. LAZ is a rare disease and is genetically associated with certain gene mutations. It has been reported primarily in older African American women and is associated with glaucoma. The purpose of this study is to study the DNA mutations of the subjects.
Detailed Description
What will happen during the study?
The objective of this study is to determine the prevalence and disease-associated genotype in African American pigmentary glaucoma patients with LAZ. Our hypothesis is that there are a subset of gene mutations associated with African American pigmentary glaucoma patients with LAZ.
Up to 10ml blood samples will be collected from the subject’s arm. Blood samples will collected and DNA will be extracted for sequencing. We will compare the results with published mutations/polymorphisms associated with LAZ.
Eligibility of study
Inclusion Criteria
Patients with LAZ
Exclusion Criteria
<18 yr old
Adults lacking consent capacity
Prisoners
Individuals admitted for inpatient or residential psychiatric treatment
Nonviable neonates or neonates of uncertain viability