Yale Bulletin and Calendar

December 15, 2006|Volume 35, Number 13|Four-Week Issue

Retinopathy of prematurity
may be due to genetic factors

Genetics play a major role in predisposing infants to retinopathy of prematurity (ROP), a disease prevalent in premature infants that disrupts normal blood vessel development of the retina and can lead to blindness, researchers at the Yale School of Medicine report in the November issue of Pediatrics.

"This is the first definitive study to show that genetic factors are a significant component of ROP and to quantify the extent of that genetic contribution," says lead author Dr. Vineet Bhandari, assistant professor of pediatrics at the School of Medicine.

ROP is most prevalent and severe in extremely low-birth-weight newborns with an overall incidence estimated to be as high as 68% among those born weighing less than 1,251 grams (2.75 pounds), and 93% in those weighing less than 750 grams (1.6 pounds) at birth. Despite early detection and intervention, ROP may lead to retinal detachment and blindness. In an attempt to treat ROP, researchers have sought significant factors, such as too much oxygen, that contribute to the disease. The Yale team hypothesized that there was a strong genetic connection involved in developing ROP.

They looked at contributing factors and outcomes for ROP within 200 twin pairs born at 32 weeks gestation or less. Study participants were from Yale, the Karolinska Institute in Sweden and the University of Connecticut. These 200 twin pairs had a mean gestational age and birth weight of 29 weeks and 1,332 grams (2.9 pounds) respectively.

"Our analyses showed that gestational age and duration of supplemental oxygen were the significant independent contributing factors for ROP," says Bhandari. "Once significant non-genetic co-factors for ROP were identified, we calculated the genetic susceptibility and determined that 70% of the contribution to ROP was the result of genetic factors alone.

"The magnitude to which genetic factors contribute to this major cause of infant morbidity accentuates the need for a shift in the paradigm utilized to identify and treat this disease process," Bhandari adds. "It is possible that a dual therapy for ROP aimed at limiting potential environmental risk factors and identifying and targeting specific genetic factors may become the model for future intervention."

Other authors on the study included Dr. Matthew J. Bizzarro and Dr. Laura R. Ment of the Department of Pediatrics at Yale; Dr. Jeffrey R. Gruen of the Yale Departments of Pediatrics and Genetics; Heping Zhang and Rui Feng of the Department of Epidemiology and Public Health at Yale; Dr. Naveed Hussain of the University of Connecticut Health Center; and Dr. Baldvin Jonsson of the Karolinska Institute.

-- By Karen Peart

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