Abnormal vascularization of the peripheral retina and retinal detachment are the common clinical characteristics of Norrie disease pseudoglioma (NDP), Familial exudative vitreoretinopathy (FEVR), and Retinopathy of prematurity (ROP). NDP is a severe, X-linked recessive neurodevelopmental disorder affecting mostly males. But it can also affect female carriers. It is also often associated with some form of mental retardation and progressive sensorineural deafness in the second decade of life. Additionally, it exhibits intrafamilial variability in the onset and severity and more complex phenotypes in some patients. FEVR is a rare bilateral eye disorder affecting full-term infants with a high penetrance and highly variable expressivity even within the same family.
The condition is characterized by the premature arrest of the vascularization of the peripheral retina. It is a genetically heterogeneous disorder and inherited as an X-linked recessive, autosomal dominant (AD) and autosomal recessive (AR) trait. Additionally, genetic heterogeneity has been reported within both AD and X-linked disorders. ROP is a retinal vascular disorder that affects infants with low birth-weight and short gestational age and is the leading cause of blindness in premature children