What Is Norrie Disease?
Norrie disease (ND) is a genetic disorder that affects the eyes primarily. Because it is inherited in an X-linked recessive manner, it affects males far more often than it does females. Specifically, ND affects the development of the retina of the eye to the extent that the cells of the retina that detect light and color are rendered partially or, as is more often the case, entirely dysfunctional. Due to the dysfunction to these retinal cells, blindness occurs. Blindness typically occurs in utero or shortly after birth. In limited cases, blindness does not occur until later in life.
In addition to blindness, individuals who have ND sometimes experience other defects, such as progressive hearing loss, occurring in about 30 percent of all ND affected people, the inability to carry out certain motor skills such as walking, for example, intellectual and mental abnormalities and certain problems that can affect breathing, circulation, digestion, and reproduction, to name a few.
Although the exact incidence of ND is unknown, it is very rare. Further, it is known that ND does not disproportionately affect any particular race or people of any particular national origin.