Robertson D M
Mayo Clinic, Mayo Graduate School of Medicine, Department of Ophthalmology, Rochester, Minnesota 55905.
Ann N Y Acad Sci. 1991;615:17-25. doi: 10.1111/j.1749-6632.1991.tb37744.x.
The ophthalmic manifestations of tuberous sclerosis include a variety of nonretinal ophthalmic findings which, other than adenoma sebaceum of the lids, are uncommon. Approximately half the patients with tuberous sclerosis have retinal or optic nerve hamartomas; in half of these patients the hamartomas occur bilaterally. Three basic morphologic types of retinal hamartomas are recognized: the most common type is a subtle, relatively flat, smooth-surfaced, salmon-colored, semitransparent, and circular or oval-shaped lesion located in the superficial retina, most commonly near or at the posterior pole. The second type is an easily recognized opaque, white, elevated, multinodular calcified lesion that is frequently described as resembling a mulberry. A third type of lesion contains features of the other two, being calcified and nodular centrally, whereas its perimeter is semitranslucent, smooth, and salmon-colored. The hamartomas may be richly vascularized. They generally do not grow, but over decades some of the lesions may become calcified. Visual loss from retinal and optic nerve hamartomas rarely occurs. Because growth and change of the fundus lesions are rare, treatment is not indicated. Retinoblastoma of the optic nerve and retina is the most important lesion that must be differentiated from the hamartomas seen with tuberous sclerosis.
结节性硬化症的眼部表现包括多种非视网膜性眼部表现，除眼睑皮脂腺瘤外，这些表现并不常见。约半数结节性硬化症患者有视网膜或视神经错构瘤；其中半数患者的错构瘤为双侧性。视网膜错构瘤有三种基本形态类型：最常见的类型是位于视网膜浅层的细微、相对扁平、表面光滑、呈鲑鱼色、半透明的圆形或椭圆形病变，最常见于后极附近或后极处。第二种类型是一种易于识别的不透明、白色、隆起、多结节状的钙化病变，常被描述为类似桑葚。第三种类型的病变兼具其他两种类型的特征，中央为钙化且呈结节状，而其周边为半透明、光滑且呈鲑鱼色。错构瘤可能血管丰富。它们通常不生长，但数十年间一些病变可能会钙化。视网膜和视神经错构瘤很少导致视力丧失。由于眼底病变很少生长和变化，故无需治疗。视神经和视网膜的视网膜母细胞瘤是必须与结节性硬化症所见错构瘤相鉴别的最重要病变。
