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Tsubasa Nishino, Akira Kobayashi, Natsuko Mori, Hideaki Yokogawa, Toshinori Masaki, Keiko Fujiki, Ai Yanagawa, Akira Murakami, Kazuhisa Sugiyama; Genetic analysis and in vivo histology of Meesmann epithelial corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3841.
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© ARVO (1962-2015); The Authors (2016-present)
To report a mutational analysis and in vivo histology of Meesmann epithelial corneal dystrophy (MECD).
Three independent families with clinically diagnosed MECD were enrolled in this study. The following individuals were tested: family 1, 1 affected individual and 1 unaffected individual; family 2, 1 affected individual and 1 unaffected individual; family 3, 3 affected individuals and 2 unaffected individuals. Slit-lamp biomicroscopy with fluorescein vital staining and anterior segment optical coherence tomography (AS-OCT) along with in vivo laser confocal microscopy were performed on possible individuals. Mutational screening for the KRT12 gene was performed in 5 patients from 3 families and selected unaffected family members.
Slit-lamp biomicroscopy revealed numerous intraepithelial microcysts in all affected individuals. A clear zone was observed in only one young patient (8 years of age). AS-OCT revealed hyperreflectivity in the epithelial layer in all individuals tested. By using in vivo laser confocal microscopy, multiple microcysts and hyperreflective materials were observed in the corneal epithelium of all individuals (5/5). In addition, subepithelial nerve abnormalities as well as tiny punctiform hyperreflective materials in the corneal stromal layer were found in all 5 individuals (5/5). Needle-like hyperreflective materials were observed in the corneal stromal layer in 3 individuals, and atrophy of Bowman's layer was observed in 2 individuals. A heterozygous genetic mutation (c.394 C→G, L132V) in the KRT12 gene was identified in all 5 patients from the 3 families. This mutation was the first in Japan and was not observed in unaffected individuals from any of the 3 pedigrees.
We identified a genetic mutation (c.394 C→G, L132V) in the KRT12 gene in MECD families that is new in Japan. Meticulous in vivo analysis of all corneal layers helped to understand in vivo histological changes. It is possible that these 3 independent families may have a common ancestor given that they share the same mutation and live relatively near each other.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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