Histologic phenotype–genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene11The authors have no commercial interest in the development or marketing of any of the products referred to in this article.

摘要: Abstract Purpose To establish a phenotype–genotype correlation of various autosomal–dominant corneal dystrophies among French subjects. Design Retrospective molecular genetic study and clinicopathologic correlation. Participants Forty-four subjects from 26 unrelated families were included in this study, 60 buttons could be examined at the histologic ultrastructural levels. Methods Light microscopy transmission electron performed on specimens obtained during keratoplasty. Blood samples collected for DNA analysis. Main outcome measures After genomic extraction peripheral blood leukocytes each family member, exons TGFBI gene amplified by polymerase chain reaction (PCR), PCR products directly sequenced both strands. Results Four different mutations found to responsible dystrophy granular type (R555W, R124L, R124H, R124L+delT125-delE126), three other produced lattice (R124C, H626R, A546T), last mutation identified was associated with honeycomb-shaped (R555Q). Each subtype showed, histologically ultrastructurally, specific characteristics that are easily recognizable. However, besides these stereotyped forms, differential diagnosis atypical forms remains difficult, misdiagnosed. Conclusions The characteristic biomicroscopic appearance histopathologic features "classic" present significant degree specificity generally provide an accurate diagnosis. which clinical data alone misleading, unequivocally diagnosed after