10.1371/journal.pone.0157418.g002
Benjamin R. Lin
Benjamin R.
Lin
Derek J. Le
Derek
J. Le
Yabin Chen
Yabin
Chen
Qiwei Wang
Qiwei
Wang
D. Doug Chung
D. Doug
Chung
Ricardo F. Frausto
Ricardo
F. Frausto
Christopher Croasdale
Christopher
Croasdale
Richard W. Yee
Richard W.
Yee
Fielding J. Hejtmancik
Fielding J.
Hejtmancik
Anthony J. Aldave
Anthony
J. Aldave
Clinical features of chromosome 10q23-q24 linked dystrophy.
Public Library of Science
2016
COL 17A
COL 17A variant segregates
dynamin binding protein
SNV
XVII
Epithelial Recurrent Erosion Dystrophy
splice donor site
gene
silico analysis
Segregation Analysis Confirms
DNA
DNMBP
dystrophy
Whole Exome Sequencing
COL 17A mutation
c .3156C variant
family members
2016-06-16 06:01:04
Figure
https://plos.figshare.com/articles/figure/Clinical_features_of_chromosome_10q23-q24_linked_dystrophy_/3449771
<p>A. Affected individual V-2 (28 years old) demonstrates a clear cornea in the right eye. B. Three months later, she developed a corneal erosion (arrows). C. Affected individual V-3 (24 years old) also demonstrated clear corneas prior to the development of a corneal erosion, the location of which can be identified by the opacification of the corneal epithelium (arrows). D. Affected individual IV-1 (72 years old) demonstrates diffuse subepithelial opacification secondary to chronic recurrent corneal erosions seen with slit and diffuse illumination in the right (D and E) and left (F) eyes.</p>