Greenwald M J, Weiss A
Pediatr Dermatol. 1984 Oct;2(2):98-117. doi: 10.1111/j.1525-1470.1984.tb00454.x.
Ocular involvement occurs frequently in the disorders known as neurocutaneous syndromes or phakomatoses. Recognition of characteristic eye lesions in the context of related skin and systemic abnormalities may be crucial to making the diagnosis of a neurocutaneous syndrome. Ocular disease in these conditions may be the cause of serious morbidity, leading to blindness or disfigurement, but successful treatment is often possible. All clinicians involved in the care of patients with neurocutaneous syndromes should have some familiarity with their ophthalmologic aspects. This review deals with ocular manifestations of neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, ataxia telangiectasia, and Bloch-Sulzberger syndrome. Clinical signs and symptoms, differential diagnosis, and natural history are considered in detail, with brief discussion of pathophysiology and management. No specialized knowledge of eye disease in general is presumed.
眼部受累在被称为神经皮肤综合征或斑痣性错构瘤病的疾病中很常见。在相关皮肤和全身异常的背景下识别特征性眼部病变对于诊断神经皮肤综合征可能至关重要。这些情况下的眼部疾病可能是严重发病的原因，导致失明或毁容，但通常可以成功治疗。所有参与神经皮肤综合征患者护理的临床医生都应该对其眼科方面有一定的了解。本综述涉及神经纤维瘤病、结节性硬化症、斯特奇-韦伯综合征、冯·希佩尔-林道病、共济失调毛细血管扩张症和布洛赫-苏尔茨贝格综合征的眼部表现。详细考虑了临床体征和症状、鉴别诊断及自然病程，并简要讨论了病理生理学和治疗方法。一般不假定读者具备眼部疾病的专业知识。
