Unusual Presentation of Presumed Posterior Polymorphous Dystrophy Associated With Iris Heterochromia, Band Keratopathy, and Keratoconus

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Posterior polymorphous keratopathy.

Seven cases with posterior polymorphous changes of the cornea are reported. After clinical and pathological examination of the above cases, as well as a short review of the literature, the following points are made: (1) Some cases are congenital, being either familial or sporadic, but others are acquired. (2) The term "posterior polymorphous keratopathy" covers all the variants of the condition...

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VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

We identified mutations in the VSX1 homeobox gene for two distinct inherited corneal dystrophies; posterior polymorphous dystrophy (PPD) and keratoconus. One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding. Two other sequence changes (L159M and G160D) were associated with keratoconus and PPD, respectively, and involved a region adjacent to th...

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[Posterior polymorphous dystrophy and LASIK].

OBJECTIVE/METHOD A 50-year-old hyperopic woman requested information about refractive surgery. Vesicle and band lesions at Descemet's membrane and endothelium were suggestive of posterior polymorphous dystrophy (PPD). Lower than normal endothelial cell densities were detected. A corneal refractive procedure was not recommended in this case. RESULTS/CONCLUSIONS The presence of vesicles and ban...

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Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy

Purpose To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the PPCD transcriptome and the effect of decreased ZEB1 expression on corneal endothelial cell (CEnC) gene expression. Methods Next-generation RNA sequencing (RNA-seq) analyses of corneal endothelium from two PPCD-affected individuals (one with PPCD3 and one of unknown genetic cause) com...

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Presumed atypical HDR syndrome associated with Band Keratopathy and pigmentary retinopathy.

This report describes presumed atypical hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome associated with unexpected ocular findings. The patient had exotropia, bilateral band keratopathy, and pigmentary retinopathy, including attenuated retinal vessels and atrophy of the retinal pigment epithelium. Even though the calcific plaques were successfully removed, visual acuity in both...

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ژورنال

عنوان ژورنال: Cornea

سال: 2010

ISSN: 0277-3740

DOI: 10.1097/ico.0b013e3181d007e1