Download Survey of Patients With Granular, Lattice, Avellino, and Reis

From: Survey of Patients With Granular, Lattice, Avellino, and Reis-Bücklers Corneal Dystrophies for Mutations
in the BIGH3 and Gelsolin Genes
Arch Ophthalmol. 2001;119(1):16-22. doi:10-1001/pubs.Ophthalmol.-ISSN-0003-9950-119-1-ecs00039
Figure Legend:
Slitlamp view (A) and histopathologic appearance (B, Masson trichrome stain) of the cornea of patient GCD1 with granular
dystrophy. Slitlamp (C) and histopathologic appearance (D, Masson trichrome stain; E, Congo red stain) of patient ACD2 with
Avellino corneal dystrophy. Slitlamp (F) and histopathologic appearance (G, Congo red stain) of the patient LCD2 with lattice corneal
dystrophy and the BIGH3 mutation His626Arg. Full-face view (H) of the affected uncle of patient LCD1 with lattice corneal dystrophy
type II (Meretoja syndrome demonstrating lax skin).
Slitlamp
(I) and
histopathologic
Copyright
© 2001
American
Medical appearance (J, Congo red stain) of index patient
Date
of Slitlamp
download:(K)5/11/2017
LCD1.
and histopathologic appearance
(L,
Congo
red
stain)
of
patient LCD5 with no detected mutation in the BIGH3
Association. All rights reserved.
and gelsolin genes. Slitlamp (M) and histopathologic appearance (N, periodic acid–Schiff stain) of the index patient in the family with
From: Survey of Patients With Granular, Lattice, Avellino, and Reis-Bücklers Corneal Dystrophies for Mutations
in the BIGH3 and Gelsolin Genes
Arch Ophthalmol. 2001;119(1):16-22. doi:10-1001/pubs.Ophthalmol.-ISSN-0003-9950-119-1-ecs00039
Figure Legend:
Schematic pedigree of the family with lattice corneal dystrophy and the His626Arg missense mutation (top) and the family with ReisBücklers dystrophy and the Gly623Asp mutation (bottom). Arrows point to the index cases. Filled symbols indicate affected
individuals. Beneath the symbols of individuals whose DNA was analyzed are their BIGH3 genotypes.
Date of download: 5/11/2017
Copyright © 2001 American Medical
Association. All rights reserved.
From: Survey of Patients With Granular, Lattice, Avellino, and Reis-Bücklers Corneal Dystrophies for Mutations
in the BIGH3 and Gelsolin Genes
Arch Ophthalmol. 2001;119(1):16-22. doi:10-1001/pubs.Ophthalmol.-ISSN-0003-9950-119-1-ecs00039
Figure Legend:
DNA sequence around codon 623 of the BIGH3 gene in the index patient RBCD1 (E92-2215) with Reis-Bücklers dystrophy and an
unaffected control individual. The patient is heterozygous with both the wild-type sequence of codon 623 (GGC), specifying glycine,
and a mutant sequence (GAT), specifying aspartic acid.
Date of download: 5/11/2017
Copyright © 2001 American Medical
Association. All rights reserved.
From: Survey of Patients With Granular, Lattice, Avellino, and Reis-Bücklers Corneal Dystrophies for Mutations
in the BIGH3 and Gelsolin Genes
Arch Ophthalmol. 2001;119(1):16-22. doi:10-1001/pubs.Ophthalmol.-ISSN-0003-9950-119-1-ecs00039
Figure Legend:
Schematic diagram of the primary structure of keratoepithelin, the protein product of the BIGH3 gene (modified from Munier et al).
D1 to D4 represent homologous domains that contain 2 highly conserved repeats designated R and r. Arg-Gly-Asp is a recognition
sequence for integrins. Below the diagrams are the locations of the mutations described in this article or previously reported
mutations that are associated with granular, Avellino, lattice, and Reis-Bücklers corneal dystrophies.
Date of download: 5/11/2017
Copyright © 2001 American Medical
Association. All rights reserved.