HEREDITARY CRYSTALLINE CORNEAL DYSTROPHY OF SCHNYDER
| Autor: | Niels Ehlers, M. E. Matthiessen |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Chromosome Disorders Biology Collagen fibril Cornea Glycosaminoglycan Crystalline corneal dystrophy Hydroxybutyrate Dehydrogenase Corneal Opacity Stroma medicine Humans Abnormal material Chromosome Aberrations Corneal Dystrophies Hereditary Histocytochemistry Esterases Epithelial Cells General Medicine Anatomy Middle Aged Epithelium Pedigree Staining Microscopy Electron Ophthalmology medicine.anatomical_structure Female |
| Zdroj: | Acta Ophthalmologica. 51:316-324 |
| ISSN: | 1755-375X |
| DOI: | 10.1111/j.1755-3768.1973.tb06009.x |
| Popis: | A family with three members affected by hereditary crystalline corneal dystrophy of Schnyder is reported. Penetrating keratoplasty was performed in two of the affected members. Clear grafts were obtained. The buttons were examined by light- and electronmicroscopy. The epithelium was normal. In the superficial stroma, deposits, often of a crystalline nature, were seen. Electron microscopically the deposits appeared as empty spaces, either of regular geometrical form suggestive of crystals, or smaller, rounded and more irregular. The collagen fibrils were normal. Staining for acid mucopolysaccharides revealed no abnormalities. Adjacent to the lipid deposits were found cells which contained membrane bound granules which appeared empty or contained crystal-like material. The cells were shown to contain non-specific As-acetate esterase and β-hydroxybutyrate dehydrogenase. It is suggested that the cells are of pathophysiological significance, although their function is at present entirely speculative. Two possibilities are suggested: the cells may be concerned with removal of the deposited material, or they may themselves produce the abnormal material. |
| Databáze: | OpenAIRE |
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