圆锥角膜的遗传学——有哪些新进展？
Genetics in Keratoconus - What is New?
作者信息
Moussa Sarah, Grabner Günther, Ruckhofer Josef, Dietrich Marie, Reitsamer Herbert
机构信息
Paracelsus Medical University Salzburg, Department of Ophthalmology and Optometry, Müllner Hauptstr. 48, 5020 Salzburg, Austria.
出版信息
Open Ophthalmol J. 2017 Jul 31;11:201-210. doi: 10.2174/1874364101711010201. eCollection 2017.
Abstract
BACKGROUND
Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease.
CONCLUSION
The review focuses on current knowledge of these genetic risk factors associated with keratoconus.
摘要
背景
圆锥角膜的特征是双侧、进行性、非炎症性角膜变薄，由于不规则散光导致视力模糊。圆锥角膜病因多因素，多种遗传和环境因素参与疾病病理生理过程。已鉴定出多个基因组位点和基因，突出了该疾病复杂的分子病因。
结论
本综述聚焦于与圆锥角膜相关的这些遗传危险因素的现有知识。
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