Background

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch. While rare cases of cataract occurring in the setting of TSC have been reported, this is the first analysis of a large series of individuals with TSC that aims to quantify the frequency of this finding and to describe its clinical and genetic associations.

Materials and Methods

This is a retrospective chart review of 244 patients from the Herscot Center for Tuberous Sclerosis Complex at the Massachusetts General Hospital who underwent complete ophthalmic examination. We describe the clinical and genetic findings in five individuals with TSC and juvenile cataract.

Results

Four of five cases (80%) were unilateral. The cataract was described as having an anterior subcapsular component in 3 of 5 cases (60%). Three individuals (60%) underwent lensectomy with intraocular lens (IOL) implant and two individuals (40%) were observed. Genetic testing revealed a known disease-causing mutation in TSC2 in 100% of cases.

Conclusions

Recent evidence suggests that mTOR signaling may play a role in cataract formation which could explain the relatively high incidence of juvenile cataract in this population. Juvenile cataract is a potentially under-recognized ocular manifestation of TSC.

中文翻译：

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少年白内障伴有结节性硬化症。

背景

结节性硬化症（TSC）是一种常染色体显性遗传疾病，其特征是良性错构瘤发生在包括大脑，肾脏，心脏，肺，肝脏，皮肤和眼睛在内的多个器官系统中。与TSC相关的典型视网膜发现包括星形细胞错构瘤和无色斑块。虽然已经报道了在TSC发生中罕见的白内障病例，但这是对一系列TSC个体的首次分析，旨在量化该发现的频率并描述其临床和遗传关联。

材料和方法

这是对来自麻萨诸塞州总医院赫斯科特结节性硬化症中心的244例患者进行了全面眼科检查的回顾性图表回顾。我们描述了5名TSC和青少年白内障患者的临床和遗传发现。

结果

五分之四的病例（80％）是单侧的。在5例病例中，有3例（60％）描述为白内障具有前囊下成分。3例（60％）接受了人工晶状体（IOL）植入物的晶状体摘除术，观察到2例（40％）。基因检测显示100％的病例中TSC2有已知的致病突变。

结论

最近的证据表明，mTOR信号传导可能在白内障形成中起作用，这可以解释该人群中青少年白内障的发病率相对较高。少年白内障是TSC的一种潜在的未被认可的眼部表现。