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冯·希佩尔病与冯·雷克林豪森神经纤维瘤病相关。

Von Hippel's disease in association with von Recklinghausen's neurofibromatosis.

作者信息

Thomas J V, Schwartz P L, Gragoudas E S

出版信息

Br J Ophthalmol. 1978 Sep;62(9):604-8. doi: 10.1136/bjo.62.9.604.

Abstract

Ten members of a large family who showed manifestations of either von Hippel-Lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestations of different phakomatoses and provide support for the concept of a common aetiology for these diseases.

摘要

对一个大家庭中表现出希佩尔-林道病或冯雷克林霍增氏神经纤维瘤病症状的10名成员进行了检查。10名成员中有3人被发现患有视网膜血管瘤,而3年前的眼底检查中并未发现这些血管瘤。这些血管瘤与神经纤维瘤病的眼部和全身症状相关。这些病例显示了不同错构瘤病的重叠表现,并为这些疾病的共同病因概念提供了支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5681/1043307/e280bbcefdef/brjopthal00225-0029-a.jpg

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