Norrie disease is a rare X-linked genetic disorder causing severe retinal maldevelopment and blindness from infancy in affected males. It can also affect hearing and development.
Ocular features
Eye changes are usually present at or soon after birth.
- Leukocoria and disorganised retinal tissue with fibrovascular masses
- Often progresses to total retinal detachment and phthisis bulbi
- Minimal visual potential in most affected eyes
- Diagnosis supported by NDP gene testing
Systemic features and management
Non-ocular manifestations vary.
- Progressive sensorineural hearing loss in many patients
- Developmental and behavioural difficulties in some families
- Early low-vision, mobility, and hearing support are crucial
- Genetic counselling and carrier testing for at-risk relatives
