IllnessNorrie syndrome

NGS *

Bilateral, symmetrical greyish-yellow elevated masses (pseudogliomas) often behind the lens along with retinal vascular dysgenesis, leukocoria. Partial/complete retinal detachment in first few weeks/months. Early cataracts, nystagmus, anterior/posterior synechiae, band keratopathy, shallow anterior chamber with increased intraocular pressure. Phthisis bulbi later on with opacified corneas, sunken orbits. Vision from light perception to congenital complete blindness. Males develop progressive asymmetrical sensorineural severe hearing loss in childhood. Developmental delay, intellectual disability in 20-30%, cognitive + psychosocial behavioral disorders, psychosis. Other: growth failure, microphthalmia, varied chronic seizure disorders, peripheral vascular disease, erectile dysfunction. Rarely carrier females with retinal detachment, abnormal retinal vasculature, vision or mild hearing loss

• Alias: Atrophia bulborum hereditaria
• Alias: Episkopi blindness
• Norrie[-Warburg] disease (NDP)