Waring G O, Rodrigues M M, Laibson P R
Surv Ophthalmol. 1978 Sep-Oct;23(2):71-122. doi: 10.1016/0039-6257(78)90090-5.
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.
大多数角膜营养不良是常染色体显性、双侧性疾病，主要累及原本正常角膜的一层，在第一或第二个十年出现后进展缓慢，且与全身性疾病无关。上皮基底膜营养不良和富克斯内皮营养不良在普通眼科医生中较为常见；点状、后多形性、颗粒状或格子状营养不良则较为少见，而其他类型在普通门诊实践中可能从未见过。虽然大多数角膜营养不良独特的临床表现有助于准确诊断，但将裂隙灯检查结果与组织病理学和生化检查结果相结合，有助于理解临床观察结果，并为治疗提供更合理的依据。透射电子显微镜检查是组织病理学诊断最准确的方法。上皮营养不良通常表现为上皮内囊肿和异常基底膜。在基质营养不良中，异常物质在角膜细胞内或胶原纤维之间积聚；它可能是过量的正常代谢产物（如黄斑营养不良中的糖胺聚糖）、通常不存在的物质（如格子状营养不良中的淀粉样蛋白）或成分未知的物质（如颗粒状营养不良中的透明质）。每种营养不良都配有一幅合成图。内皮营养不良将在第二篇文章中单独论述。
