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

1998; Wiley; Volume: 26; Issue: 3 Linguagem: Inglês

10.1111/j.1442-9071.1998.tb01321.x

1440-1606

W.E. Marshman, Lee JP, B.F. Jones, C Schalit, CE Holder,

Myasthenia Gravis and Thymoma

Abstract 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.