Physical and ocular examinations reveal retinal astrocytic hamartoma, adenoma sebaceum, hypopigmented macule, shagreen patch, periunugal fibroma, renal hamartoma and subependymal calcifications.

• 全身系统检查方面有理学检查，血液学检查，头部电脑断层扫描摄影，心脏超音波，肾脏超音波及皮肤切片病理检查。