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.
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.
Authors: B Appukuttan; E Gillanders; S H Juo; D Freas-Lutz; S Ott; R Sood; A Van Auken; J Bailey-Wilson; X Wang; R J Patel; C M Robbins; M Chung; G Annett; K Weinberg; M S Borchert; J M Trent; M J Brownstein; J T Stout Journal: Am J Hum Genet Date: 1999-12 Impact factor: 11.025