Avellino角膜营养不良在共焦显微镜下的形态学特征

Morphologic characteristics of Avellino corneal dystrophy by confocal microscopy

目的探讨Avellino角膜营养不良(ACD)患者的共焦显微镜图像特点。方法对经基因型检测明确为ACD患者(R124H突变)的10例20眼角膜进行共焦显微镜检查,其中1例2眼为穿透角膜移植(PK)术后眼,一眼病变复发,另一眼无复发表现。并取颗粒状角膜营养不良Ⅰ型(GCDⅠ,R555W突变)患者9例18眼作为对照。结果ACD患者未手术眼共焦显微镜图像特点:基底上皮、Bowman膜及整个角膜基质均可见不同程度的异常反光改变;PK术后复发眼Bowman膜及紧邻其下的前基质可见由细小沉积物组成的不规则混浊;PK术后无复发表现眼角膜各层未见明显异常。GCDⅠ型最显著的共焦显微镜图像特点为角膜基质内以大型沉积物为主。结论首次对经基因检测确诊的Avellino角膜营养不良患者的角膜进行活体共焦显微镜检查。ACD患者基底上皮、Bowman膜及整个角膜基质均可见不同程度的异常反光改变,但较GCDⅠ型患者的沉积物为小。

Objective To analyze the image of Avellino corneal dystrophy with R124H gene mutation using in vivo confocal microscopy. Methods Mutations of BIGH3 gene were detected in patients with granular corneal dystrophy（GCD） in Beijing Tongren Eye Center. Confocal microscopy examination was performed on 20 eyes of Avellino corneal dystrophy with R124H gene mutation. Only 2 eyes （1 patients） received penetrating keratoplasty（PK） before, and the other 18 eyes had no any operation history. Eighteen eyes of 9 patients with granular corneal dystrophy type I were included in the study as control. Results The features of Avellino corneal dystrophy under the confocal microscopy were follow as： There were abnormal light reflection in the layers of basal epithelium,Bowman＇ s membrane and corneal stroma layer in the nonoperation group. The superficial stroma layer of cornea presented with irregular deposits showing a highly reflective image. Larger deposits can be seen in corneal middle stroma （250 μm×2901μm or bigger than 500μm of star-shaped deposits ）. The deep stroma of cornea displayed distinct small deposits with the diameter between 8-18μm,which might be related to the keratocytes. In the 2 eyes received PK,the recurred one showed multiple irregular bright reflection in the Bowman＇ s layer and anterior stroma layer and no any abnormal finding was seen in irrecurrent eye. However,different from Avellino corneal dystrophy,the unique feature of corneal stroma of GCD type I was bigger deposits with the size between 250-450μm. Conclusion Confocal microscope can differentiate Avellino corneal dystrophy with R124H gene mutation from granular corneal dystrophy. Bigger deposits were found in the patients with GCD I.