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Home » NEI Laboratories » Pediatric, Developmental and Genetic Ophthalmology

Pediatric, Developmental and Genetic Ophthalmology

Current Research

Uveal coloboma is a potentially blinding, developmental abnormality of the eye caused by failure of the optic fissure to close during the 5th week of human gestation. The purpose of our clinical and basic research is to better understand the genetic and developmental mechanisms of optic fissure closure. Our short-term goal is to provide better diagnostics and genetic counseling for our patients; our long-term goal is to find preventions and/or treatments for this condition. Our approach is summarized in the following figure:

Genes for Uveal Coloboma chart.

Our clinical studies are focused on understanding how patients with coloboma see and what, if any, associated clinical conditions they might have. Using state-of-the-art diagnostic equipment, we are trying to better understand the anatomy of eyes and the visual pathways of patients with coloboma. We are also collecting detailed clinical and epidemiology information.

Using the tools of modern genetics, we are also searching for genes important in optic fissure closure in humans. We use mouse and zebrafish models to better understand how genes are regulated during the course of optic fissure closure. Specific mutant mouse strains are also being investigated to discover genes that might cause coloboma in humans. Thse studies have identified that two zinc finger proteins, Nlz1 and Nlz2, regulate optic fissure closure through a Pax2-dependent mechanism. We are currently trying to understand the developmental role of these and other genes from our screen in the normal process of optic fissure closure and to search for causative mutations in humans.


Name Title E-Mail
Brian Brooks, MD
PubMed Author Search
Pediatric Ophthalmologist
Yuri Sergeev Staff Scientist
Delphine Blain, MS, MBA Genetic Counselor
Amy Turiff Genetic Counselor
Prasad Alur, Ph.D. Lab Manager
Sanita Bharti, Ph.D Postdoctoral Research Fellow
Elangovan Boobalan, Ph.D. Research Associate
Monika Dolinska Research Associate
Sunit Dutta, Ph.D. Postdoctoral Resarch Fellow
Felix Onojafe, D.V.M. Senior Lab Technician
Casey Hadsall, RN, MSN Nurse Coordinator
Jennifer Sarchet Nurse Coordinator
Shahila Sriskanda IRTA Student

Recent Publications

Department of Health and Human Services NIH, the National Institutes of Health