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Elena Korvatska, Francis L. Munier, Pascal Chaubert, Ming X. Wang, Yukihiko Mashima, Masakazu Yamada, Sylvie Uffer, Leonidas Zografos, Daniel F. Schorderet; On the Role of Kerato-Epithelin in the Pathogenesis of 5q31-Linked Corneal Dystrophies. Invest. Ophthalmol. Vis. Sci. 1999;40(10):2213-2219.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. Recently, the authors identified a gene, BIGH3, in
which different mutations cause a group of hereditary corneal
dystrophies: lattice type I and IIIA (CDLI and CDLIIIA), granular
Groenouw type I (CDGGI), Avellino (CDA), and Reis–Bücklers’
(CDRB). All these disorders are characterized by the progressive
accumulation of corneal deposits with different structural
organization. Experiments were conducted to determine the role of
kerato-epithelin (KE), the product of BIGH3, in the pathogenesis of the
methods. KE-15 and KE-2, two rabbit antisera raised against peptides from the
69–364 and 426–682 amino acid regions of KE respectively, were used
for immunohistology of the corneas obtained after keratoplasty in six
CDLI patients, three CDGGI patients, and one CDA patient.
results. The nonamyloid deposits observed in CDGGI stained intensively with
KE-15 and KE-2, whereas the amyloid deposits in all analyzed CDLI
corneas reacted to KE-2 but not to KE-15. In the CDA cornea, where
amyloid and nonamyloid inclusions were present, positive staining with
both antisera was observed.
conclusions. Pathologic amyloid and nonamyloid deposits observed in CDLI, CDGGI-,
and CDA-affected corneas are caused by KE accumulation. Different
staining patterns of amyloid and nonamyloid deposits observed with
antibodies against the amino and carboxyl termini of KE suggest that
two mechanisms of KE misfolding are implicated in the pathogenesis of
5q31-linked corneal dystrophies.
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