颗粒状角膜营养不良1例报告并文献复习

Granular Corneal Dystrophy:A Case Report and Review of Literature

目的:探讨颗粒状角膜营养不良(GCD)的病因、临床病理特征、诊断与鉴别诊断、治疗与预后。方法:报道1例罕见的GCD,并复习国内外相关文献。结果:光镜:角膜前弹力层可见弥漫成片的嗜酸性颗粒状物质堆积。组织化学染色:M asson染色呈鲜红色,刚果红染色呈桔红色,PA S(-)。电镜:嗜酸性颗粒状物为致密、带状排列的梭形及杆状结晶物,结晶物之间可见小空隙及少量胶原纤维。结论:GCD是一种常染色体显性遗传性疾病,具有较典型的形态学特征,确诊需依赖特征性超微结构病理改变。临床上应与格子状角膜营养不良和斑块状角膜营养不良鉴别。该病保守治疗无效,晚期出现视力障碍需行角膜移植治疗。

Objective：To study the etiology,clinical and pathological fea：tures ,diagnosis and differential diagnosis, therapy and prognosis of granular corneal dystrophy （GCD）. Methods：The data of a patient with GCD was analyzed ,and the related literatares were reviewed. Results：Microscopically,diffused eosinophilic granules were observed on the lamina elastica corneae anterior in tighly packed nests ,which present bright red with Masson stain,reddish yellow with Gongo reophy stain and negative for PAS stain. In electron microscopy, fusiform and rod shaped bodies were observed as the eosinophilic granules in tightly girdle shape, among which there were tiny airspace and a few collagen fiber. Conclusions.. GCD is rare autosomal dominant inheritance disease with typically morphological features. Clinically GCD is easily confused with lattice corneal dystrophy and macular corneal dystrophy. Diagnosis of GCD is always based on typical ultrastructure by electron microscopy. Conservative treatment is ineffective. Late phase GCD with visual disorder needs corneal transplant.