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Genomic strategies to understand causes of keratoconus

Molecular Genetics and Genomics, ISSN: 1617-4623, Vol: 292, Issue: 2, Page: 251-269
2017
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  • 62
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Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas

STUDY INFORMATION OFFICIAL TITLE: Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas CURRENT STATUS: Completed STUDY TYPE: Interventional SPONSOR AGENCY:Sao

Review Description

Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the genetic triggers has been a major emphasis of KTCN research. This paper focuses on genomic strategies that were implemented for finding candidate genes, including linkage and association studies, and presents different approaches of mutation screening. The advantages and limitations of particular tools are discussed based on literature and personal experience. Since etiology underlying KTCN is complex, numerous findings indicating heterogeneity of genetic factors involved KTCN etiology are presented.

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