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HEREDITARY CRYSTALLINE CORNEAL DYSTROPHY OF SCHNYDER
Author(s) -
EHLERS NIELS,
MATTHIESSEN MARTIN E.
Publication year - 1973
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1973.tb06009.x
Subject(s) - stroma , negative stain , dystrophy , glycosaminoglycan , staining , cornea , chemistry , pathology , collagen fibril , anatomy , fibril , electron microscope , biology , medicine , biochemistry , immunohistochemistry , ophthalmology , physics , optics
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.