Clinical and Genetic Analysis of Retinopathy of Prematurity (ROP)

Retinopathy of prematurity (ROP) is a leading cause of childhood blindness worldwide and is treated based on the presence of symptoms of "plus disease", a dilation and tortuosity of retinal vessels. This project aims to identify the genetic and clinical underpinnings of the disease by comparing the germline variants of ~1,400 premature babies. 100 samples have been selected for WES and all have been genotyped. ]]>
All infants hospitalized at participating Neonatal Intensive Care Units (NICUs) will be eligible for the proposed study if they meet published criteria for requiring ROP screening examination, or if they are transferred to the study center for specialized ophthalmic care. Patients will be excluded if they have structural ocular anomalies, or if they are considered unstable for examination by their attending neonatologist. These eligibility criteria are identical at each study center, and match what is done in standard clinical practice according to national guidelines published jointly by the American Academy of Pediatrics, American Academy of Ophthalmology, and American Association for Pediatric Ophthalmology and Strabismus (AAP-AAO, Pediatrics, 2013). ]]>
This NIH funded multi-center study began July 2011 with 8 study sites: Oregon Health & Science University, Columbia University Irving Medical Center, Weill Cornell Medical College, William Beaumont Hospital/Corewell Health, Children's Hospital Los Angeles, University of Miami, University of Illinois Chicago, Cedars Sinai Medical Center and an international site at Asociacion para Evitar la Ceguera (APEC) in Mexico City. For the competitive renewal of the grant which began in 6-01-2020, the recruitment sites have been reduced to 5 which include Oregon Health & Science University, William Beaumont/Corewell Health, University of Illinois Chicago, University of Utah and Stanford University. Over 1650 subjects have been recruited for part or all portions of the study which collect demographic data, systemic health data, eye exam data with corresponding imaging data and genetic data.]]>