Sarah Moussa, Günther Grabner, Josef Ruckhofer, Marie Dietrich, Herbert Reitsamer
{"title":"圆锥角膜的遗传学-有什么新发现?","authors":"Sarah Moussa, Günther Grabner, Josef Ruckhofer, Marie Dietrich, Herbert Reitsamer","doi":"10.2174/1874364101711010201","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Conclusion: </strong>The review focuses on current knowledge of these genetic risk factors associated with keratoconus.</p>","PeriodicalId":512318,"journal":{"name":"The Open Ophthalmology Journal","volume":"11 ","pages":"201-210"},"PeriodicalIF":0.0000,"publicationDate":"2017-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585456/pdf/","citationCount":"14","resultStr":"{\"title\":\"Genetics in Keratoconus - What is New?\",\"authors\":\"Sarah Moussa, Günther Grabner, Josef Ruckhofer, Marie Dietrich, Herbert Reitsamer\",\"doi\":\"10.2174/1874364101711010201\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Conclusion: </strong>The review focuses on current knowledge of these genetic risk factors associated with keratoconus.</p>\",\"PeriodicalId\":512318,\"journal\":{\"name\":\"The Open Ophthalmology Journal\",\"volume\":\"11 \",\"pages\":\"201-210\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-07-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585456/pdf/\",\"citationCount\":\"14\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Open Ophthalmology Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2174/1874364101711010201\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2017/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Open Ophthalmology Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2174/1874364101711010201","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2017/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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.