Recessive Mutations in<i>TSPAN12</i>Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

Abstract

We report for the first time recessive mutations in TSPAN12 and describe the first genetic cause for the clinical variation seen in FEVR families. Our data raise the possibility that patients with severe FEVR actually may harbor two mutant alleles, derived either from the same gene or potentially from other genes encoding components of the Norrin-β-catenin signaling pathway.