Severe Exudative Vitreoretinopathy Secondary to Homozygous PCDH12 Mutations

To describe the clinical course of a case of exudative vitreoretinopathy in the setting of homozygous loss-of-function PCDH12 mutations and provide a comprehensive literature review.

Retrospective case review with associated whole exome sequencing, color fundus photography, and fluorescein angiography.

A 14-year-old male with homozygous loss-of-function PCDH12 mutations presented with bilateral decreased vision. The right eye demonstrated extensive retinal neovascularization, temporal vessel dragging, lipid exudate, and peripheral avascular retina. The left eye had tractional bands emanating from the optic nerve, exudates, and vessel dragging, and peripheral examination revealed extensive avascular retina with neovascularization and fibrotic bands. The patient was treated with sequential laser photocoagulation bilaterally.

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.