COL2A1 and retinal detachment: Pathogenic variants in exon 2 of the COL2A1 gene often cause nonsyndromic ocular STL1, such as the pathogenic variants Gly67Asp, Trp47Ter, Cys64Ter and Cys57Tyr.10, 11, 12 Additionally, intronic sequence variants affecting the alternative splicing efficiency of exon 2 of COL2A1 have been associated with an increased risk of retinal detachment.31