Elliott J H, Feman S S, O'Day D M, Garber M
Arch Ophthalmol. 1985 May;103(5):676-9. doi: 10.1001/archopht.1985.01050050068020.
Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type of sclerocornea, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized. To our knowledge, 97 cases of all types of sclerocornea have been reported in the world literature, either as a primary anomaly or in association with cornea plana. Peripheral sclerocornea in association with cornea plana was found in nine members of one family, in four of five generations studied. To our knowledge, this is the largest pedigree of hereditary peripheral sclerocornea identified. Our pedigree suggests the autosomal-dominant transmission of this entity but doesn't rule out phenocopies or other modes of inheritance in other cases of sclerocornea. Chromosomal analyses of representative family members revealed normal karyotypes.
硬化性角膜是一种原发性异常，其中角膜周边部分或整个角膜组织会发生巩膜化。在周边型硬化性角膜中，受累区域有浅层巩膜血管形成的规则弓状血管分布。在完全性硬化性角膜中，整个角膜不透明且有血管分布。据我们所知，世界文献中已报道了97例各种类型的硬化性角膜病例，这些病例要么是原发性异常，要么与扁平角膜相关。在一个家族的9名成员中发现了与扁平角膜相关的周边型硬化性角膜，在所研究的五代中有四代出现这种情况。据我们所知，这是已确定的遗传性周边型硬化性角膜的最大谱系。我们的谱系表明该疾病为常染色体显性遗传，但不排除在其他硬化性角膜病例中存在表型模拟或其他遗传方式。对代表性家族成员的染色体分析显示核型正常。
