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.

• Type: Case-Control
• Archiver: The database of Genotypes and Phenotypes (dbGaP)