Norrie disease
What are the symptoms?
The features of Norrie disease are:
- Visual problems (see entry, Visual impairment) affecting the development of the retina which is the light sensitive film at the back of the eye. Boys who have Norrie disease are usually born with severe visual problems and, on examination, an ophthalmologist will see an abnormal looking retina at the back of the eye and can make the diagnosis on this examination. Boys with Norrie disease may have retinal detachment and may also develop cataracts;
- Developmental delay (see entry, Learning Disability) which affects around one third of patients to some degree. In a small group of patients there is severe developmental delay which can be associated with behavioural problems;
- Hearing difficulty (see entry, Deafness) which affects around one third of patients. It is often progressive, starting in early childhood.
The disease severity is extremely variable.
Background
| What are the causes? 
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