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Duane's retraction syndrome and juvenile Batten's disease: a new association?
W E Marshman1, J P Lee, B Jones
1Strabismus and Paediatric Service, Moorfields Eye Hospital, London, United Kingdom.
Background:
Although Duane's retraction syndrome (DRS) represents less than 5% of strabismus patients presenting to an ophthalmology department, it is a difficult management problem that is often poorly treated. The developmental defect has been isolated to early in the embryonic period, but to date a chromosomal location is still uncertain. Neuronal ceroid lipofuscinosis (NCL) or Batten's disease is a lysosomal storage disease with autosomal recessive inheritance, which has been categorized according to the age of onset of symptoms.
Methods/Results:
We report on a patient with DRS who developed juvenile Batten's disease.
Conclusions:
These two abnormalities can both be inherited, but their association has not been previously documented.