Sanfilippo Paul, Troutbeck Robyn, Vandeleur Kevin
Brisbane North Eye Centre, 708 Gympie Road, Chermside, Queensland 4032, Australia.
Clin Exp Optom. 2003 May;86(3):187-91. doi: 10.1111/j.1444-0938.2003.tb03102.x.
Von Hippel-Lindau disease is a multi-system disorder that can produce hamartomas (benign tumour-like nodules) of the eyes, skin and nervous system. Retinal capillary angioma is a common ocular association of this congenital phakomatosis that may result in blinding sequelae, if not managed appropriately. We present a case of retinal angioma associated with von Hippel-Lindau disease and discuss the ocular and systemic signs, diagnosis and management. The optometrist is of particular importance in screening for this disorder, as it is often first detected in a routine eye examination.
冯·希佩尔-林道病是一种多系统疾病,可产生眼、皮肤和神经系统的错构瘤(良性肿瘤样结节)。视网膜毛细血管瘤是这种先天性错构瘤常见的眼部表现,如果处理不当可能导致致盲后遗症。我们报告一例与冯·希佩尔-林道病相关的视网膜血管瘤病例,并讨论其眼部和全身症状、诊断及治疗。验光师在筛查这种疾病中尤为重要,因为它常在常规眼科检查中首次被发现。