Norrie Disease

ND is a hereditary disorder characterized by a range of fibrous and vascular changes of the retina at birth. Blindness is commonly present at birth. However, other patients will undergo a clinical progression throughout childhood, which will result in varying degrees of blindness and/or visual impairment. The most severe retinal findings are referred to as pseudogliomas, which are grayish, yellow, fibrovascular masses. These pseudogliomas often result in vitreous hemorrhage. Other reported ocular findings include retinal dysgenesis, retinal detachment, corneal opacities, and cataract. About half of all male patients have developmental delay/mental retardation and about 40% of will develop progressive sensorineural hearing loss beginning in early childhood.