Significant Accomplishments

A link between fetal light exposure and retinopathy of prematurity

In a multidisciplinary collaboration between basic scientists and clinicians, members of Pediatric Ophthalmology showed that light exposure during pregnancy is a risk factor for severe retinopathy of prematurity. A study published in Nature in February 2013 by researchers in the laboratory of Richard Lang, PhD, and David Copenhagen, PhD, University of California, San Francisco, first showed that a light response in the fetal eye of mice regulates the number of retinal neurons and, in turn, the pattern of retinal vascularization. Taking his cue from this biology, Michael Yang, MD, published an analysis in Ophthalmology that shows reduced light exposure during the first trimester is strongly associated with severe forms of retinopathy of prematurity. These finding may suggest that many cases of retinopathy of prematurity could be prevented if newly pregnant mothers received sufficient daily light exposure.

Eye Genetics Clinic Launched

In October 2012, Pediatric Ophthalmology and Human Genetics established a joint clinic to evaluate and diagnose patients with rare and novel genetic eye disorders. The clinic evaluation and diagnosis side is led by Constance West, MD, Director of Pediatric Ophthalmology, and Howard Saal, MD, Director of Clinical Genetics and Cytogenetics. They are assisted by Virginia Utz, MD, and Robert Hufnagel, MD, PhD. Additional staff includes fellows, residents, genetic counselors, and research coordinators. So far, the Eye Genetics Clinic has provided formal evaluations for more than 20 families. Patients are evaluated by ocular examination, modern imaging, color vision analysis, electrophysiology and clinical genetic testing. The genetic research aspect of the clinic is led by Zubair Ahmed, PhD, Associate Professor of Pediatric Ophthalmology and Human Genetics. With the goal of describing novel diseases and uncovering new disease genes, 70 individuals have been enrolled in Ahmed’s research. Identification of novel disease genes will provide new questions for research in animal model systems, to be answered in research labs of the Visual Systems Group led by Richard Lang, PhD. The group studies the mechanisms of familial ocular disease to identify therapeutic targets and test novel treatments.