Schisis-Like Presentations of Familial Exudative Vitreoretinopathy Caused by FZD4 Mutations.

Purpose: To describe a case series with schisis-like presentations of genetically confirmed familial exudative vitreoretinopathy (FEVR) caused by FZD4 mutations.

Methods

Retrospective case review of 4 patients with FEVR caused by FZD4 mutations, analyzed by optical coherence tomography (OCT) for schisis-like characteristics.

Results

Three pediatric patients and 1 adult patient presented with unilateral, inner schisis in the retinal periphery. Overall, the schisis was characterized by thickening of the inner retinal layers and column-like structures affecting mostly the internal limiting membrane, nerve fiber layer, and ganglion cell layer, while mostly sparing the inner nuclear layer.

Conclusions

Patients with genetically confirmed FEVR caused by mutations in FZD4 can have a schisis-like presentation. This is a distinct entity from other retinal disorders that involve schisis. Since it can be hard to visualize clinically, peripheral OCT imaging should be performed during a retinal examination with the patient under anesthesia to fully evaluate these presenting characteristics.