Paper Information

Journal:   JOURNAL OF OPHTHALMIC AND VISION RESEARCH   2016 , Volume 11 , Number 1; Page(s) 1 To 2.
 
Paper: 

KERATOCONUS, A TRUE CORNEAL DISEASE (EDITORIAL)

 
 
Author(s):  GHASSEMBAGLOU NAVID, DJALILIAN ALI R.
 
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Abstract: 

Keratoconus (KCN) is a non?inflammatory disease that leads to progressive corneal ectasia and visual impairment. It is a global disease affecting millions of people throughout the world. Notably, it is a heterogeneous disease with highly variable presentation and progression. A genetic predisposition to keratoconus has long been recognized, however studies have not identified a common genetic defect or variant that could explain the majority of cases. Recently, mutations in miR?184 were implicated in a subset of patients with familial keratoconus and cataract.
[1] miR?184 is the most abundant miRNA expressed in the cornea and lens. In this issue of JOVR, Farzadfard et al have reported that they did not identify any mutations in miR?184 among 47 patients, concluding that it is not a major cause of KCN among Iranian patients.
[2] It is noteworthy that a variation in the pri?miR?184 encoding region was detected in a patient with familial KCN. The same variation was also detected in the affected sister. Overall, these studies highlight the need for identifying novel genes and variants associated with KCN. This information will ultimately allow us to identify patients at greater risk for development or progression of KCN while also providing novel targets for potential therapeutic strategies…

 
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