Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies
Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies
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DOI：
10.1016/j.jtos.2013.12.002
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发表时间：
2014-10-01
期刊：
影响因子：
6.4
通讯作者：
Mehta, Jodhbir S.
中科院分区：
文献类型：
--
作者：
Lakshminarayanan, R.;Chaurasia, Shyam S.;Mehta, Jodhbir S.
角膜营养不良症是一组发生在角膜各层的遗传性疾病，影响角膜透明度和视力。不溶性蛋白物质以细胞外沉积或细胞内囊肿的形式沉积是病理性的。TGFBI的突变是浅表性和间质性角膜营养不良的原因。基因产物转化生长因子β诱导蛋白（TGFBIp）以各种形式的不溶性沉积物积累。严重程度、临床致病变异、发病年龄和沉积位置取决于蛋白质中氨基酸改变的类型。直到2006年，38种不同的致病性突变被报道为tgfbi相关的角膜营养不良。据30多个国家报道，这一数字已增至63个突变体。目前还没有有效的治疗方法来预防、阻止或逆转TGFBIp的沉积。这篇综述介绍了一个完整的突变更新，表型分类，综合报道的各种突变事件，以及目前的治疗方案和它们的缺点。讨论了今后的研究方向和抑制疾病进展的可能途径。
Corneal dystrophies are a group of inherited disorders localized to various layers of the cornea that affect corneal transparency and visual acuity. The deposition of insoluble protein materials in the form of extracellular deposits or intracellular cysts is pathognomic. Mutations in TGFBI are responsible for superficial and stromal corneal dystrophies. The gene product, transforming growth factor beta induced protein (TGFBIp) accumulates as insoluble deposits in various forms. The severity, clinicopathogenic variations, age of the onset, and location of the deposits depend on the type of amino acid alterations in the protein. Until 2006, 38 different pathogenic mutants were reported for the TGFBI-associated corneal dystrophies. This number has increased to 63 mutants, reported in more than 30 countries. There is no effective treatment to prevent, halt, or reverse the deposition of TGFBIp. This review presents a complete mutation update, classification of phenotypes, comprehensive reported incidents of various mutations, and current treatment options and their shortcomings. Future research directions and possible approaches to inhibiting disease progression are discussed.