Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

Details

Serval ID
serval:BIB_45096E9C88FD
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?
Journal
Investigative ophthalmology & visual science
Author(s)
Ridgway A.E., Akhtar S., Munier F.L., Schorderet D.F., Stewart H., Perveen R., Bonshek R.E., Odenthal M.T., Dixon M., Barraquer R., Escoto R., Black G.C.
ISSN
0146-0404
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
41
Number
11
Pages
3286-92
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
PURPOSE: Two mutations (R555Q and R124L) in the BIGH3 gene have been described in anterior or Bowman's layer dystrophies (CDB). The clinical, molecular, and ultrastructural findings of five families with CDB was reviewed to determine whether there is a consistent genotype:phenotype correlation. METHODS: Keratoplasty tissue from each patient was examined by light and electron microscopy (LM and EM). DNA was obtained, and exons 4 and 12 of BIGH3 were analyzed by polymerase chain reaction and single-stranded conformation polymorphism/heteroduplex analysis. Abnormally migrating products were analyzed by direct sequencing. RESULTS: In two families with type I CDB (CDBI), the R124L mutation was defined. There were light and ultrastructural features of superficial granular dystrophy and atypical banding of the "rod-shaped bodies" ultrastructurally. Patients from three families with "honeycomb" dystrophy were found to carry the R555Q mutation and had characteristic features of Bowman's dystrophy type II (CDBII). CONCLUSIONS: There is a strong genotype:phenotype correlation among CBDI (R124L) and CDBII (R555Q). LM and EM findings suggest that epithelial abnormalities may underlie the pathology of both conditions. The findings clarify the confusion over classification of the Bowman's layer dystrophies.
Keywords
Adult, Basement Membrane, Child, Child, Preschool, Corneal Dystrophies, Hereditary, DNA Mutational Analysis, Epithelium, Corneal, Extracellular Matrix Proteins, Female, Humans, Infant, Keratoplasty, Penetrating, Male, Middle Aged, Mutation, Neoplasm Proteins, Polymerase Chain Reaction, Transforming Growth Factor beta, Visual Acuity
Pubmed
Web of science
Create date
28/01/2008 12:59
Last modification date
20/08/2019 13:49
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