Petrohelos M, Tricoulis D, Kotsiras I, Vouzoukos A
Am J Ophthalmol. 1975 Dec;80(6):1006-10. doi: 10.1016/0002-9394(75)90329-3.
A 27-year-old woman not only had the usual clinical and laboratory features of the adult form of Gaucher's disease but also had typical pingueculae and a peculiar lesion with a pigmented temporal edge in the fundus of her left eye. Bone-marrow aspiration demonstrated infiltration by Gaucher's cells and a biopsy of the conjuctival masses disclosed areas of infiltration by Gaucher's cell beneath normal epithelium.
一名27岁女性不仅具有成人型戈谢病常见的临床和实验室特征,还患有典型的睑裂斑,并且其左眼眼底有一个颞侧边缘色素沉着的特殊病变。骨髓穿刺显示有戈谢细胞浸润,结膜肿物活检显示在正常上皮下方有戈谢细胞浸润区域。