Fu Meng-Jun, Zhao Jing, Duan Shan, Zhang Hao-Run, Zhao Jing-Jing, Zeng Li, Wang Rui, Zhou Xing-Tao
Department of Refractive Surgery Center, Weifang Eye Hospital, Weifang 261000, Shandong Province, China.
State Key Laboratory of Ophthalmology, Optometry and Visual Science, Eye Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China.
Int J Ophthalmol. 2022 Sep 18;15(9):1416-1422. doi: 10.18240/ijo.2022.09.02. eCollection 2022.
To investigate the histological characteristics and ultrastructure of recurrent Chinese R124L mutated corneal dystrophy after keratoplasty.
The subjects were enrolled from a Chinese family of corneal dystrophy with R124L heterozygous gene mutation and with a history of consanguineous marriage. Normal corneal samples were used as controls.
In this family, 2 patients (3 eyes) underwent penetrating keratoplasty (PKP) and 2 patients (4 eyes) underwent lamellar keratoplasty (LKP). They had recurrence at 33.5±3.0 (range 30-36)mo after keratoplasty. Among them, 1 patient (1 eye) underwent PKP again and 1 patient (2 eyes) underwent LKP again. In the R124L mutated recurrent corneal dystrophy, the corneal turbidity was mainly distributed from the upper corneal cortex to the anterior stroma; the corneal epithelium surface was rougher and more uneven; and, the corneal erosions were larger. Hematoxylin-eosin staining showed that the thickness of the corneal epithelium was uneven; the arrangement of the epithelial cells was disordered; and, some corneal epithelial cells were swollen. The results of Congo red staining, Masson's trichrome staining and Periodic acid-Schiff staining were positive, while that of Alcian blue staining was negative. Under a transmission electron microscope, deposition of high electron density substances between epithelial and basal cells, and, apoptosis of basal cells were observed. Many high electron density depositions were observed in the sub-epithelial and anterior corneal matrix.
In the Chinese family of recurrent corneal dystrophy with R124L gene mutation, the corneal epithelia of the recurrent cases are rougher, and the corneal depositions are extracellular amyloid fibrin.
研究中国R124L突变型角膜营养不良角膜移植术后复发的组织学特征和超微结构。
研究对象来自一个具有R124L杂合基因突变且有近亲结婚史的中国角膜营养不良家族。正常角膜样本用作对照。
该家族中，2例患者（3只眼）接受了穿透性角膜移植术（PKP），2例患者（4只眼）接受了板层角膜移植术（LKP）。他们在角膜移植术后33.5±3.0（范围30 - 36）个月复发。其中，1例患者（1只眼）再次接受了PKP，1例患者（2只眼）再次接受了LKP。在R124L突变型复发性角膜营养不良中，角膜混浊主要分布于角膜上皮质至前基质；角膜上皮表面更粗糙、更不平整；且角膜糜烂更大。苏木精 - 伊红染色显示角膜上皮厚度不均；上皮细胞排列紊乱；部分角膜上皮细胞肿胀。刚果红染色、Masson三色染色和过碘酸 - 希夫染色结果为阳性，而阿尔辛蓝染色结果为阴性。在透射电子显微镜下，观察到上皮细胞与基底细胞之间有高电子密度物质沉积以及基底细胞凋亡。在角膜上皮下和前基质中观察到许多高电子密度沉积物。
在具有R124L基因突变的中国复发性角膜营养不良家族中，复发病例的角膜上皮更粗糙，角膜沉积物为细胞外淀粉样纤维蛋白。
