Australian and New Zealand journal of ophthalmology · 1998
Duane's retraction syndrome and juvenile Batten's disease: a new association?
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Marshman W E, Lee J P, Jones B, Schalit G, Holder G E
Аннотация
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.
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.