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M. Pretorius, N. Sinclair, M. Jeffrey, D.L. Boase; Posterior Polymorphous Endothelial Dystrophy Requiring Penetrating Keratoplasty: A Case With Clinicopathologic Correlation and Genetic Analysis . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4943.
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To evaluate a case of posterior polymorphous dystrophy: clinical presentation, histopathology and genetic analysis. This rare autosomal dominant disorder is characterised by corneal endothelial abnormalities due to metaplasia into epithelial–like cells. It may lead to visual impairment due to loss of corneal transparency and glaucoma.
Observational case report detailing clinical examination and histology results following penetrating keratoplasty. Corneal sections were stained with haematoxylin and eosin, PAS, and immunoperoxidase for cytokeratins. Clinical examination and genetic analysis is being undertaken on the patient and relatives.
Histology confirmed the diagnosis of PPED (image 1). Previously reported loci responsible for PPED have been mapped to mutations in the VSX1 gene on chromosome 20q11,the COL8A2 gene on chromosome1 and chromosome 10 by a linkage study. We are currently undertaking linkage analysis of the family.
Oedema develops in only a small number of patients. Most cases of PPED do not require treatment. This case demonstrates details of the histological findings and an understanding of the genetics having important implications for the appreciation of the pathogenesis, diagnosis and treatment of congenital diseases of corneal endothelium.
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