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Posterior polymorphous corneal dystrophy; novel clinical and molecular genetic insights
Author(s) -
Liskova P.
Publication year - 2017
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.1755-3768.2017.03372
Subject(s) - corneal dystrophy , biology , corneal disease , genetics , medicine , cornea , neuroscience
Summary Posterior polymorphous corneal dystrophy ( PPCD ) is a rare disorder inherited as an autosomal dominant trait. The general prevalence is unknown except for within the Czech Republic, where patients with PPCD have been systematically followed for decades. Currently there are over 125 living patients, leading to an estimated prevalence 1 affected individual per 80,000 inhabitants. Based on molecular genetic findings there are three subtypes recognized ( PPCD 1‐ PPCD 3). Recently OVOL 2 promoter mutations have been discovered as causing PPCD 1. As there is mutual inhibition relationship between OVOL 2 and epithelial‐to‐mesenchymal ( EMT ) transition inducer ZEB 1, encoded by an established gene implicated in the development of PPCD 3, the disease mechanism seems to lie in imbalance of transcription factors involved in EMT . Clinically, individuals with PPCD 3 typically show in comparison to PPCD 1 patients abnormal corneal steepening and lower incidence of secondary glaucoma and necessity for corneal grafting. Supported by GACR 17‐12355S.