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.
Marshman
W E
WE
Strabismus and Paediatric Service, Moorfields Eye Hospital, London, United Kingdom.
Lee
J P
JP
Jones
B
B
Schalit
G
G
Holder
G E
GE
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