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Bilateral Norrie's disease in identical twins
1Department of Ophthalmology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
The British Journal of Ophthalmology
|March 1, 1991
Summary
This report details a rare case of Norrie
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Norrie disease is a rare X-linked recessive disorder.
- It primarily affects the eyes, causing blindness from birth.
- Neurological complications can also occur.
Purpose of the Study:
- To report a unique case of Norrie disease in identical twins.
- To highlight the rarity of this condition in Malaysia.
- To contribute to the understanding of Norrie disease genetics.
Main Methods:
- Case report of identical twins.
- Review of clinical presentation and family history.
- Literature review on Norrie disease.
Main Results:
- Identical twins diagnosed with Norrie disease.
- No family history of the condition was identified.
- One twin deceased at 9 months from an undetermined cause.
- This represents the first reported case in Malaysia.
Conclusions:
- Norrie disease can occur in identical twins.
- The absence of family history underscores the possibility of de novo mutations.
- This case highlights the importance of early diagnosis and genetic counseling.