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Gelatinous drop-like corneal dystrophy is not one of the βig-h3–mutated corneal amyloidoses

Authors
  • Dota, Atsuyoshi
  • Nishida, Kohji
  • Honma, Yoichi
  • Adachi, Wakako
  • Kawasaki, Satoshi
  • Quantock, Andrew J.
  • Kinoshita, Shigeru
Type
Published Article
Journal
American Journal of Ophthalmology
Publisher
Elsevier
Publication Date
Jan 01, 1998
Accepted Date
May 07, 1998
Volume
126
Issue
6
Pages
832–833
Identifiers
DOI: 10.1016/S0002-9394(98)00186-X
Source
Elsevier
License
Unknown

Abstract

PURPOSE: To discover if βig-h3 is mutated in gelatinous drop-like corneal dystrophy, as has been suggested. METHODS: Genomic DNA was isolated from unrelated individuals with lattice corneal dystrophy type I (n = 3), Avellino corneal dystrophy (n = 3), and gelatinous drop-like corneal dystrophy (n = 3) and used as a template for polymerase chain reaction to amplify all exons in βig-h3. The polymerase chain reaction product was then sequenced. RESULTS: βig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy (Arg124His). In gelatinous drop-like corneal dystrophy, on the other hand, no mutation was detected in the entire coding region of βig-h3 (all 17 exons). CONCLUSION: Unlike the amyloidotic corneal dystrophies lattice type I and Avellino, gelatinous drop-like corneal dystrophy is not likely to be caused by a mutation in βig-h3.

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