Ocular histopathology of Norrie's disease

A white male infant who had an early onset of marked visual loss was subsequently diagnosed as having Norrie's disease. The primary ocular lesions of Norrie's disease appear to result from an arrest in the development of the embryonic sensory retina with associated persistence of the primary vitreous. There is marked hypoplasia and dysplasia of retinal elements. Retention and hyperplasia of preretinal ectodermal and mesodermal components of the primary vitreous seem to be largely responsible for the characteristic preretinal membranes, secondary hemorrhage, and total retinal detachment. Histopathologic evidence suggests that this entity is pathogenetically distinct from Coats' syndrome.