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J Croxatto, D Fernandez-Sasso, ES Malbran; Clinicopathologic Findings in Punctiform and Polychromatic pre-Descemet's Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1724.
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Purpose:Punctiform and polychromatic pre-Descemet’s corneal dystrophy (PPDCD) is a rare dominant inherited disease with Southern French ancestry, first reported from Argentina in 1979. The affected members are asymptomatic, retain good vision, and have no detectable systemic abnormalities. The nature of the deposits is unknown. We report herein for the first time the clinicopathologic findings in one affected member and the results of corneal confocal examination of two other members of the originally reported family. Methods:A corneal button was obtained postmortem from a 93-year-old-man with slit-lamp biomicroscopic features of PPDCD. The specimen was processed for light and electron microscopy. A comprehensive list of special stains were used including PAS, toluidine blue, Congo red, Alcian blue, Masson trichrome, and Sudan black among others. Two affected members, mother and daughter were examined with a corneal confocal microscope (Confoscan 2, Nidek Co. Ltd., Japan). Results:Light microscopy revealed multiple small birrefringent crystals when observed under polaryzed light ilummination. Lipid deposits were seen along the deepest stromal lamellae. All other stains and examination with fluorescent microscopy were negative. Electron microscopy showed numerous small extracellular and isolated intracellular empty spaces in the corneal stroma. Confocal images showed multiple highly refringent, small polygonal crystal-like structures in the pre-endothelial layer. Conclusion:The polychromatic stromal opacities in PPDCD are due mainly to extracellular birrefringent crystals with suggested lipid content. Confocal microscopy confirmed the location of the deposits and their crystalin shape. Further biochemical and genetic studies are required to elucidate the source of the deposits and to identify the gene.
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