Dataset Information

Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology.

ABSTRACT: PURPOSE:To evaluate corneal morphology using ultrasonic pachymetry (USP), Fourier-domain optical coherence tomography (FD-OCT), and in vivo confocal microscopy (IVCM) in 2 related canine breeds-German shorthaired pointers (GSHPs) and German wirehaired pointers (GWHPs)-with and without corneal endothelial dystrophy (CED). This condition is characterized by premature endothelial cell degeneration leading to concomitant corneal edema and is similar to Fuchs endothelial corneal dystrophy. METHODS:Corneas of 10 CED-affected (4 GSHP and 6 GWHP) and 19 unaffected, age-matched (15 GSHP and 4 GWHP) dogs were examined using USP, FD-OCT, and IVCM. A 2-sample t test or Mann-Whitney rank-sum test was used to statistically compare parameters between both groups. Data are presented as mean ± SD or median (range). RESULTS:Central corneal thickness determined using USP was significantly greater in CED-affected than in unaffected dogs at 1179 (953-1959) and 646 (497-737) ?m, respectively (P < 0.001). Central epithelial thickness was found to be significantly decreased in CED-affected versus unaffected dogs at 47 ± 7.1 and 55 ± 7.1 ?m, respectively (P = 0.011), using FD-OCT. With IVCM, corneal endothelial density was significantly less (P < 0.001) in 5 dogs with CED versus 19 unaffected controls at 499 ± 315 versus 1805 ± 298 cells/mm, respectively. CED-affected dogs exhibited endothelial pleomorphism and polymegethism, whereas CED-unaffected dogs had regular hexagonal arrangement of cells. CONCLUSIONS:GSHPs and GWHPs with CED exhibit marked differences in corneal morphology when compared with age-matched control dogs. These 2 CED-affected breeds represent spontaneous, large animal models for human Fuchs endothelial corneal dystrophy.

SUBMITTER: Shull OR

PROVIDER: S-EPMC5799001 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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Publications

Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology.

Shull Olivia R OR Reilly Christopher M CM Davis Lola B LB Murphy Christopher J CJ Thomasy Sara M SM

Cornea 20180101 1

<h4>Purpose</h4>To evaluate corneal morphology using ultrasonic pachymetry (USP), Fourier-domain optical coherence tomography (FD-OCT), and in vivo confocal microscopy (IVCM) in 2 related canine breeds-German shorthaired pointers (GSHPs) and German wirehaired pointers (GWHPs)-with and without corneal endothelial dystrophy (CED). This condition is characterized by premature endothelial cell degeneration leading to concomitant corneal edema and is similar to Fuchs endothelial corneal dystrophy.<h4 ...[more]

PMID: 29077583

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Project description:Fuchs’ endothelial corneal dystrophy (FECD) is a progressive vision impairing disease caused by thickening of Descemet’s membrane and gradual degeneration and loss of corneal endothelial cells. The aim of this study was to identify differentially expressed genes between FECD-affected and unaffected corneal endothelium to gain insight into the pathophysiological mechanisms underlying this disease. Microarray gene expression analysis was performed on total RNA from FECD-affected and unaffected corneal endothelium-Descemet’s membrane (CE-DM) specimens using the Illumina HumanHT-12 v3.0 expression array. RNA from pools of FECD-affected (n=3 per pool) and individual unaffected (n=3) specimens was used for comparison. Altered expression of a sub-set of differentially expressed genes was validated by quantitative reverse transcription-polymerase chain reaction (qRT-PCR) in independent specimens. Bioinformatics analysis was performed using InnateDB to reveal functional relationships among the differentially expressed genes and molecular pathways involved in the disease. A total of 16,513 genes were found expressed in the corneal endothelium of which 142 genes were differentially expressed between FECD-affected and unaffected endothelium (log2 fold-change ≥1.5, corrected p-value ≤0.05). Most of the genes were up-regulated (126) and a small proportion down-regulated (16) in affected corneal endothelium. Of the twelve genes prioritised for validation, differential expression of 10 genes, including those ranked 57th and 81st by significance validated by qRT-PCR (8 up-regulated and 2 downregulated, corrected p ≤0.05), one gene showed a trend for up-regulation in affected endothelium, consistent with the microarray analysis and another was up-regulated in an independent study indicating robustness of the differential expression dataset. Bioinformatic analysis revealed significant over-representation of differentially expressed genes in extracellular matrix reorganisation, cellular remodelling, immune response, and inflammation. Network analysis showed functional inter-relatedness of the majority of the dysregulated genes and revealed known direct functional relationships between 20 of the genes; many of these genes have roles in macrophage differentiation, phagocytosis and inflammation. This is the second report of microarray gene expression analysis in FECD. This study revealed a set of highly dysregulated genes in the corneal endothelium in FECD. More than a third of the dysregulated genes in the disease have been discovered for the first time and thus are novel. The dysregulated genes strongly suggest the presence of phagocytic cells, most likely immune cells, and inflammation in corneal endothelium in the disease. This study provides a molecular framework for delineating the mechanisms underlying these cellular processes in FECD.

Dataset Information

Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology.

Publications

Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology.

Similar Datasets

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