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HM Herbert, CE Willoughby, J Bowyer, P Hiscott, SB Kaye; (Intra-Familial) Phenotypic Variability in a Four Generation Family with Posterior Polymorphous Dystrophy . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1736.
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Purpose:To investigate the phenotypic variability in a single pedigree with PPMD. Design: Cross-sectional study. Methods:All family members in a four generation pedigree underwent a full ophthalmic assessment for features of PPMD. This included corneal topography and pachymetry (Orbscan). Intra-ocular pressure measurement, optic disc biomicroscopy and visual field analysis was also carried out. The proband underwent penetrating keratoplasty and corneal material was examined using cytokeratin staining and light microscopy to fully characterise the phenotype. Results:The proband demonstrated typical features of PPMD on light microscopy & cytokeratin staining. 11 family members were assessed (4 male, 7 female). There was an autosomal dominant mode of inheritance with 5 of the 7 'at risk' individuals showing features of PPMD.Features varied in severity in affected individuals. Conclusion:This study demonstrates that there is wide intra-familial variability in the phenotypic features of PPMD.
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