Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree
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Rui Wang. Department of Refractive Surgery Center, Weifang Eye Hospital, No.139, Xingfu Road, Kuiwen District, Weifang 261000, Shandong Province, China. 15866565239@163.com; Xing-Tao Zhou. Department of Ophthalmology, Eye and ENT Hospital of Fudan University, No.83, Fenyang Road, Xuhui District, Shanghai 200031, China. doctzhouxingtao@163.com

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Supported by the National Natural Science Foundation of China (No.81770955); the Major Clinical Research Project of Shanghai Shenkang Hospital Development Center (No.SHDC2020CR1043B); the Project of Shanghai Xuhui District Science and Technology (No.2020-015); the Project of Weifang Science and Technology Bureau (No.2021RKX160).

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    Abstract:

    AIM: To investigate the histological characteristics and ultrastructure of recurrent Chinese R124L mutated corneal dystrophy after keratoplasty. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

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Meng-Jun Fu, Jing Zhao, Shan Duan, et al. Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree. Int J Ophthalmol, 2022,15(9):1416-1422

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Publication History
  • Received:January 21,2022
  • Revised:July 21,2022
  • Adopted:
  • Online: September 01,2022
  • Published: