杜安眼球后退综合征与青少年型巴滕病：一种新的关联？
Duane's retraction syndrome and juvenile Batten's disease: a new association?
作者信息
Marshman W E, Lee J P, Jones B, Schalit G, Holder G E
机构信息
Strabismus and Paediatric Service, Moorfields Eye Hospital, London, United Kingdom.
出版信息
Aust N Z J Ophthalmol. 1998 Aug;26(3):251-4. doi: 10.1111/j.1442-9071.1998.tb01321.x.
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.
背景
尽管杜安眼球后退综合征（DRS）在眼科就诊的斜视患者中占比不到5%，但它是一个难以处理的问题，治疗效果往往不佳。发育缺陷已被确定在胚胎期早期，但迄今为止染色体定位仍不明确。神经元蜡样脂褐质沉积症（NCL）或巴顿病是一种常染色体隐性遗传的溶酶体贮积病，已根据症状出现的年龄进行了分类。
方法/结果：我们报告了一名患有DRS并发展为青少年巴顿病的患者。
结论
这两种异常情况都可能是遗传性的，但它们之间的关联此前尚未有文献记载。
Zotero 插件