Severe Exudative Vitreoretinopathy Secondary to Homozygous PCDH12 Mutations

PCDH12 is a gene important for vascular integrity with suggested links to Wnt/β-catenin-associated signaling pathways implicated in familial exudative vitreoretinopathy (FEVR) pathogenesis. This case describes a detailed genotype-phenotype link between homozygous PCDH12 loss-of-function mutations and FEVR, suggesting a benefit to ophthalmic referral for PCDH12-associated syndromes as well as PCDH12 testing for genetically undifferentiated FEVR patients.