Retinal and central nervous system abnormalities: syndromes which resemble retrolental fibroplasia

Recently, the mechanism of the development of severe retrolental fibroplasia has been shown to occur by gap junction formation between adjacent mesenchymal spindle cells in the nerve fiber layer. Multiple syndromes with oculo-cerebral malformations give rise to retinal dysplasia (disturbances of neuroectodermal migration and/or differentiation) or retinal vascular abnormalities (disturbances of mesenchymal differentiation) which resemble clinically retrolental fibroplasia. Case 1 is an example of retinal dysplasia (disturbed neuroectodermal migration and/or differentiation) with normal retinal vascularization simulating superficially an active peripheral retinal detachment of retrolental fibroplasia in the preterm infant. Case 2 is an example of normal retinal differentiation with abnormal retinal vascularization (disturbed mesenchymal differentiation) simulating identically cicatricial dragging of the retinal vessels temporally of retrolental fibroplasia in the preterm infant. Thus, cases of central nervous system malformation should prompt an early ophthalmologic examination to document retinal abnormalities in term infants which occur without the administration of oxygen congenitally, from true retrolental fibroplasia in preterm infants which occurs following changes in oxygen tension approximately 8 weeks postnatally.