Clinical and genetic update of corneal dystrophies
Clinical and genetic update of corneal dystrophies
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DOI：
10.1016/j.exer.2019.107715
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发表时间：
2019-09-01
影响因子：
3.4
通讯作者：
Weiss, Jayne S.
中科院分区：
文献类型：
--
作者：
Lisch, Walter;Weiss, Jayne S.
国际角膜营养不良分类委员会（IC 3D）区分了22种不同形式的角膜营养不良，主要是常染色体显性，尽管常染色体隐性和X染色体显性模式确实存在。在进行任何遗传检查之前，应该对尽可能多的受影响和未受影响的家庭成员进行详细的角膜检查，因为详细的表型描述对于准确诊断至关重要。角膜记录应在药物散瞳的情况下在裂隙灯的直接和间接照明下进行。对于大多数角膜营养不良，表型-基因型相关性尚未得到证实。然而，对于与转化生长因子β诱导基因（TGFBI）突变相关的营养不良，一般表型-基因型相关性是明显的。胶原蛋白，XVII型，α 1突变（COL 17 A1）的发现，在所谓的上皮复发性糜烂营养不良（ERED）的病因是一个非常重要的步骤，在角膜营养不良的准确诊断。这导致随后的发现，以前称为10 q Thiel-Behnke角膜营养不良的实体实际上是COL 17 A1 ERED，而不是Thiel-Behnke角膜营养不良。除了表型的标志，我们描述了目前的基因型的个人角膜营养不良。鉴别诊断可以通过组织病理学、光学相干断层扫描（OCT）和共聚焦显微镜的信息来辅助。
The International Committee for Classification of Comeal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant patterns do exist. Before any genetic examination, there should be documentation of a detailed corneal exam of as many affected and unaffected family members as possible, because detailed phenotypic description is essential for accurate diagnosis. Corneal documentation should be performed in direct and indirect illumination at the slit lamp with the pharmacologically dilated pupil. For the majority of the corneal dystrophies, a phenotype-genotype correlation has not been demonstrated. However, for the dystrophies associated with mutations in the transforming growth factor, beta-induced gene (TGFBI) a general phenotype-genotype correlation is evident. The discovery of collagen, type XVII, alpha 1 mutation (COL17A1), causative in the called epithelial recurrent erosion dystrophy (ERED) was a very important step in the accurate diagnosis of corneal dystrophies. This led to the subsequent discovery that the entity previously called 10q Thiel-Behnke corneal dystrophy, was in reality actually COL17A1 ERED, and not Thiel-Behnke corneal dystrophy. In addition to the phenotypic landmarks, we describe the current genotype of the individual corneal dystrophies. Differential diagnosis can be aided by information on histopathology, optical coherence tomography (OCT), and confocal microscopy.