Corneal dystrophies. I. Dystrophies of the epithelium, Bowman's layer and stroma

Surv Ophthalmol. 1978 Sep-Oct;23(2):71-122. doi: 10.1016/0039-6257(78)90090-5.

Abstract

Most corneal dystrophies are autosomal dominant, bilateral disorders that primarily affect one layer of an otherwise normal cornea, progress slowly after their appearance in the first or second decade, and are not associated with a systemic disease. Epithelial basement membrane dystrophy and Fuchs' endothelial dystrophy are seen commonly by the general ophthalmologist; fleck, posterior polymorphous, granular or lattice dystrophies are seen more rarely, and others may never be seen in general office practice. While the distinctive clinical appearance of most corneal dystrophies allows accurate diagnosis, the integration of slitlamp findings with histopathologic and biochemical findings aids in the understanding of the clinical observations and provides a more rational basis for therapy. Transmission electtron microscopy is the most accurate method of histopathologic diagnosis. Epithelial dystrophies usually manifest intraepithelial cysts and abnormal basement membrane. In stromal dystrophies, an abnormal substance accumulates within the keratocytes or among the collagen fibrils; it may be an excess normal metabolite (like glycosaminoglycans in macular dystrophy), a material not usually present (like amyloid in lattice dystrophy), or a substance of unknown composition (like hyaline in granular dystrophy). Each dystrophy is illustrated with a composite drawing. Endothelial dystrophies will be reviewed separately in a second article.

MeSH terms

  • Adolescent
  • Adult
  • Basement Membrane / pathology
  • Child
  • Child, Preschool
  • Cornea / pathology*
  • Cornea / ultrastructure
  • Corneal Dystrophies, Hereditary / diagnosis*
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / pathology
  • Corneal Transplantation
  • Epithelium / pathology
  • Eponyms
  • Female
  • Fuchs' Endothelial Dystrophy / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged