Premium
The Czech Republic experience in a corneal clinic
Author(s) -
Liskova P.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0009
Subject(s) - czech , cornea , optometry , corneal dystrophy , medicine , ophthalmology , corneal disease , philosophy , linguistics
Summary The spectrum of monogenic corneal disorders identified in the Czech Republic is diverse. We have observed some of the rare disorders, such as cornea plana, megalocornea, Harboyan syndrome and brittle cornea syndrome, in Czech patients. We have also observed a founder effect for posterior polymorphous corneal dystrophy, which appears to have the highest worldwide prevalence in the Czech Republic. Molecular genetic confirmatory testing can be performed in settings with limited laboratory diagnostic services either on a research basis or via research collaborations. Experience from the Czech Republic suggests that monogenic corneal disorders, particularly those that are non‐syndromic, are under‐diagnosed.