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G. O. Rosenwasser, V. S. Yellore, J. C. Papp, S. A. Rayner, L. A. Rosenwasser, C. Callahan, J. W. Sassani, E. Sobel, A. J. Aldave; A Clinical, Light and Electron Microscopic Evaluation of a Novel Pedigree With Posterior Amorphous Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5880.
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To describe the clinical and histopathologic features of a large pedigree with posterior amorphous corneal dystrophy (PACD).
Slit lamp examination of each study subject was performed to determine the affected status. Corneal pachymetry and topography were also performed in affected individuals. Light and electron microscopic examination of corneal buttons excised at the time of penetrating keratoplasty was also performed.
Slit lamp examination and ancillary testing was performed for 52 individuals, 14 of whom were diagnosed as affected based on the presence of characteristic clinical features of PACD. Characteristic clinical features included a lamellar posterior corneal stromal opacification that appeared either at or just anterior to Descemet's membrane, decreased corneal thickness, and a flattened corneal contour. The majority of affected individuals demonstrated bilateral superior corneal scleralization and several patients demonstrated iris abnormalities, including correctopia and iris coloboma. Two of the affected individuals required corneal transplantation for visually significant corneal opacification; histopathologic examination of the excised corneal specimens demonstrated disorganized stromal lamellae and stromal staining with colloidal iron, but no staining with the alcian blue or periodic acid-Schiff stains. Electron microscopic examination revealed the presence of amorphous extracellular material between the stromal lamellae in the anterior cornea and disorganization of the posterior stromal lamellae.
The family that we report represents just the tenth pedigree with PACD described to date. The clinical features identified in the affected individuals expand the range of anterior segment abnormalities associated PACD, and the extracorneal manifestations challenge its classification as a corneal dystrophy.
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