This disease was first described by Gordon Norrie, a Danish ophthalmologist who described the features in 1927.
This disorder presents at birth or soon thereafter, when a white reflex is seen in the pupil (leukocoria). There may be no response to light even at this early stage. The eyeballs are often small as well and cataracts often develop. The iris (colored part of the eye) may be abnormal. The pupillary reflex represents reflections from an enlarging mass in the back of the eye due to abnormal development of the retina. Hemorrhage from this mass often leads to a retinal detachment. The condition may be unilateral but typically involves both eyes with some asymmetry. Most patients become deaf by the second decade of life. Many have some mental deficiency with growth delays as well. Some patients have seizures and occasional adults have behavioral problems or frank psychoses.
This is an X-linked disorder in which only males are affected. Many are unable to reproduce. Carrier females are not affected but can pass the mutant X-chromosome to each of their sons with a 50% chance and half of their daughters will be carriers like themselves.
The diagnosis is usually made by an ophthalmologist in cooperation with neurologists and pediatricians. Life expectancy is usually not shortened but the blindness and deafness create challenges for caregivers.