FAMILY STUDY OF CTRP5 MUTATION, LONG ZONULES, MACULAR DEGENERATION AND GLAUCOMA -
DESCRIPTION (provided by applicant): In this application, Daniel Roberts seeks funding to complete coursework relative to Ph.D. training in Public Health Sciences/Epidemiology and to carry out a thesis project. Dr. Roberts received an OD degree from Indiana University, an MS in "Clinical Research Design and Statistical Analysis" from the University of Michigan, and he is working toward his PhD at the University of Illinois at Chicago. Since completing his residency, Dr. Roberts has primarily been involved in providing clinical education at the Illinois Eye Institute, a division of the Illinois College of Optometry in Chicago, IL. Several years ago Dr. Roberts became interested in the condition referred to as pigment dispersion syndrome (PDS) because he had detected it among several African-American patients, a population for which the literature often said very rarely, if ever, was affected. Dr. Roberts felt there was probably an underestimation of the disease because a hallmark sign, iris trans-illumination defects (ITDs), were not typically detectable among dark-brown irides. His efforts toward these small studies have now lead to important conclusions that suggest an important tract of study. Through his work, Dr. Roberts has produced evidence for the first time that PDS does occur in the relatives of African-American probands. His work is also starting to show that infrared iris imaging may be used to detect ITDs in African-Americans, and that a separate type of pigment dispersion occurs in older individuals who have long anterior lens zonules (LAZ), a finding recently linked to a CTRP5 mutation by his genetics mentor, Dr. Radha Ayyagari. The grant herein seeks 3 years of funding to complete PhD coursework and to carry out a mentored patient-oriented thesis project to study his database of LAZ probands and their family members for evidence of the CTRP5 mutation, and potential association with glaucoma and macular degeneration. Mentorship would be provided by an epidemiologist, a glaucoma specialist, and a geneticist. In addition to the clinical work, mentorship would be gained through onsite genetics laboratory instruction at the University of Michigan. Relevance to public health: This study seeks further understanding of the relationship of a gene (CTRP5) mutation to the development of long anterior lens zonules which may serve as a surrogate marker of risk for serious eye conditions including macular degeneration and glaucoma. This study may help physicians identify early risk for serious eye disease via recognition of the LAZ phenotype.
