Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

Details

Serval ID
serval:BIB_840CDE35692D
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation
Journal
Eye
Author(s)
Diaper  C. J., Schorderet  D. F., Chaubert  P., Munier  F. L.
ISSN
0950-222X (Print)
Publication state
Published
Issued date
01/2005
Volume
19
Number
1
Pages
92-6
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan
Abstract
A family was previously reported as suffering from severe granular dystrophy. The phenotypic picture suggested a mix of homozygous and heterozygous family members. Genetic analysis confirms the homozygousity in the patients most severely affected, but shows the disease state to be one of Avellino corneal dystrophy. The previous case reports are extended immunohistological staining using polyclonal antibodies raised against keratofepithelin. This genotype/phenotype correlation study is consistent with incomplete dominance.
Keywords
Adolescent Child Corneal Dystrophies, Hereditary/*genetics/pathology/surgery Corneal Transplantation/methods Extracellular Matrix Proteins/*genetics Eye Proteins/*genetics Family Health Female Homozygote Humans Male Middle Aged Mutation Pedigree Phenotype Transforming Growth Factor beta/*genetics Visual Acuity/genetics
Pubmed
Web of science
Open Access
Yes
Create date
28/01/2008 13:59
Last modification date
08/05/2019 21:18
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