title: Retinal degenerations and brain abnormalities in infants and young children.
abstract: Of 51 infants and children who presented with visual impairment, developmental delays, and suspected brain abnormalities, 28 (55%) had clinical, electroretinographic, and cranial computed tomographic results indicative of cerebroretinal disorders. This report concentrates on the electroretinographic and psychophysical results from 12 patients who had evidence of progression of both brain and retinal disease. We believe these patients represent human cerebroretinal degenerative disorders that have yet to be completely characterized.
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D004596:Electroretinography; D006801:Humans; D007223:Infant; D009410:Nerve Degeneration; D010786:Photoreceptor Cells / Q000503:physiopathology; D011601:Psychophysics / Q000379:methods; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000503:physiopathology*; D009435:Synaptic Transmission