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Alan E. A. Ridgway, Saeed Akhtar, Francis L. Munier, Daniel F. Schorderet, Helen Stewart, Ramat Perveen, Richard E. Bonshek, Monica T. P. Odenthal, Michael Dixon, Rafael Barraquer, Remberto Escoto, Graeme C. M. Black; Ultrastructural and Molecular Analysis of Bowman’s Layer Corneal Dystrophies: An Epithelial Origin?. Invest. Ophthalmol. Vis. Sci. 2000;41(11):3286-3292.
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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
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
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