As is true for GLI3, the SP4 gene locus has potential relevance to retinal disease given evidence for its role in transcriptional regulation of multiple photoreceptor restricted genes74,75 Similarly, DCLK176 and PTPRD77, which demonstrate both SNP and loci-level association within the iROP and GOLDR cohorts, have been previously associated with DR in animal and human studies respectively. This evidence concerns the gene GLI3 and Abnormal retinal morphology.