Genomic strategies to understand causes of keratoconus.
Mol Genet Genomics
; 292(2): 251-269, 2017 Apr.
Article
in En
| MEDLINE
| ID: mdl-28032277
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genomics
/
Keratoconus
Type of study:
Etiology_studies
Limits:
Humans
Language:
En
Journal:
Mol Genet Genomics
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2017
Type:
Article
Affiliation country:
Poland