The Challenges of Norrie Disease

Parents experience many difficulties as they face parenthood. A healthy child takes a lot of responsibility to care for, but imagine having a baby who has serious disabilities that will only get worse as they get older. Parents shutter at the mere thought of this, but many parents are living this nightmare every day. They have their beautiful children, who face disabilities that will inhibit them from ever leading a normal life. These children will have to create their own "normal." They will have to live with Norrie Disease.

Norrie disease was described in the 1920s and again in the 1930s as an inherited form of blindness that affects only males. The disease is also known as Norrie-Warburg syndrome, Fetal Iritis syndrome, Norrie syndrome, Atrophia Bulborum hereditaria, congenital progressive oculo-acousticocerebral degeneration, Episkopi blindness and Pseudoglioma congenital.

Leopold Heine, a German Ophthalmologist, first described Norrie Disease in 1925 and Gordon Norrie, a Danish Ophthalmologist, described it again in 1927. Norrie disease is caused by a mutation in the NDP gene. The mutation results in the underdevelopment of the eye inside the womb. The back part of the eye stops growing. After birth, the retina doesn't work like it should and the baby cannot see properly. It is possible that the mothers of the boys who have this syndrome are the carriers of the mutated NDP gene. Although it is rare, the female carriers sometimes have some of the retinal problems.

Symptoms of Norrie disease are blindness, mental retardation (50% have some degree of mental delay), hearing loss, visual impairment, developmental delays in motor skills such as walking and sitting up and other eye abnormalities such as cataracts, bilateral leukokoria (yellow or pink-white ocular reflex) and micro-ophthalmia (literally means little eye). The onset of mental retardation is between 18 months and 5 years. It is possible for psychosis to occur with the mental retardation. Other abnormalities that may occur as the result of Norrie disease are problems with circulation, breathing, digestion, excretion and reproduction.

If Norrie disease is present, an ophthalmologist will discover an abnormal retina. A diagnosis can be made if the child shows other signs and symptoms of the disease. Diagnosis can also be confirmed by genetic testing.

There is no treatment for Norrie disease and there is no way to stop or reverse the effects of the disease. Visual impairment and hearing loss will require the child to need special education. Despite all of the challenges that a child with Norrie disease face, it is possible for them to have a normal life span.