[HTML][HTML] Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations
Purpose To investigate corneal phenotype in aniridia-associated keratopathy (AAK)
including its earliest manifestations, in relation to PAX6 mutational status. Methods 46
subjects (92 eyes) with congenital aniridia from a German registry were examined using slit
lamp biomicroscopy, anterior segment optical coherence tomography, contact esthesiometry
and in vivo confocal microscopy. Cytogenetic analysis was conducted by Sanger
sequencing of PAX6 exons and/or MLPA analysis. Measured parameters included AAK …
including its earliest manifestations, in relation to PAX6 mutational status. Methods 46
subjects (92 eyes) with congenital aniridia from a German registry were examined using slit
lamp biomicroscopy, anterior segment optical coherence tomography, contact esthesiometry
and in vivo confocal microscopy. Cytogenetic analysis was conducted by Sanger
sequencing of PAX6 exons and/or MLPA analysis. Measured parameters included AAK …
