Posterior polymorphous dystrophy of the cornea (Schlichting). An unusual clinical variant. 1980

H Witschel, and R Sundmacher, and H Theopold, and W Jaeger

Three members of a family with dominant inherited endothelial dystrophy of the cornea are described. The father showed only subclinical disease with subtle endothelial blisters like those found in Schlichting's dystrophy. His daughter and grandson, however, both suffered from a peculiar, prominent, ring-shaped clouding of the cornea which progressed to severe edema, necessitating keratoplasty. Light, transmission, and scanning electron microscopy revealed an epithelial transformation of the endothelium. While the anterior banded part of Descemet's membrane was well-formed in the central cornea, it was missing in the periphery. This corresponded with the ring-shaped opacity and indicated a very early transformation of the endothelium in this area. We believe that this pedigree represents an unusual clinical variant of posterior polymorphous dystrophy of the cornea.

UI MeSH Term Description Entries
D008297 Male Males
D008871 Microvilli Minute projections of cell membranes which greatly increase the surface area of the cell. Brush Border,Striated Border,Border, Brush,Border, Striated,Borders, Brush,Borders, Striated,Brush Borders,Microvillus,Striated Borders
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003315 Cornea The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed) Corneas
D003317 Corneal Dystrophies, Hereditary Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. Corneal Dystrophies,Granular Dystrophy, Corneal,Groenouw's Dystrophies,Macular Dystrophy, Corneal,Stromal Dystrophies, Corneal,Corneal Dystrophy,Corneal Dystrophy, Hereditary,Corneal Granular Dystrophies,Corneal Granular Dystrophy,Corneal Macular Dystrophies,Corneal Macular Dystrophy,Corneal Stromal Dystrophies,Corneal Stromal Dystrophy,Dystrophy, Corneal,Dystrophy, Corneal Granular,Dystrophy, Corneal Macular,Dystrophy, Corneal Stromal,Dystrophy, Hereditary Corneal,Groenouw Dystrophies,Groenouws Dystrophies,Hereditary Corneal Dystrophies,Hereditary Corneal Dystrophy,Stromal Dystrophy, Corneal
D003318 Corneal Opacity Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque. Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal
D003886 Descemet Membrane A layer of the cornea. It is the basal lamina of the CORNEAL ENDOTHELIUM (from which it is secreted) separating it from the CORNEAL STROMA. It is a homogeneous structure composed of fine collagenous filaments, and slowly increases in thickness with age. Lamina Elastica Posterior,Descemet's Membrane,Descemet Membranes,Descemets Membrane,Elastica Posterior, Lamina,Elastica Posteriors, Lamina,Lamina Elastica Posteriors,Membrane, Descemet,Membrane, Descemet's,Membranes, Descemet,Posterior, Lamina Elastica,Posteriors, Lamina Elastica
D004727 Endothelium A layer of epithelium that lines the heart, blood vessels (ENDOTHELIUM, VASCULAR), lymph vessels (ENDOTHELIUM, LYMPHATIC), and the serous cavities of the body. Endotheliums
D005260 Female Females

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