Etiology and pathogenesis

The etiology remains poorly understood.

Recent data indicate the causative role of somatic mutation in the NDP gene. NDP mutations also give rise to other vitreoretinal diseases, including Norrie disease, familial exudative vitreoretinopathy (FEVR), and retinopathy of prematurity (ROP). Common to all four diseases are defects in the vascularization of the retina.