Duane's retraction syndrome and juvenile Batten's disease: a new association?
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.


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.
Strabismus and Paediatric Service, Moorfields Eye Hospital, London, United Kingdom.
W E
WE
Marshman
J P
JP
Lee
B
B
Jones
G
G
Schalit
G E
GE
Holder
D002675:Child, Preschool; D003623:Dark Adaptation; D004370:Duane Retraction Syndrome / Q000150:complications* / Q000503:physiopathology; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology*; D005260:Female; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000503:physiopathology; D012160:Retina / Q000503:physiopathology; D014792:Visual Acuity