A clinical, histopathological, and genetic study of XXXX in British families.

@entity1 @entity527 @entity14416 @entity3793 @entity3985 @entity377 @entity13685 @entity369
AIMS: To establish a clinical, histopathological, and genetic diagnosis in two unrelated @entity13685 ( @entity13685 ). METHODS: Genomic DNA was extracted from peripheral blood leucocytes of all members participating in the study. Exons 4 and 12 of the @entity1 @entity14416 ( @entity14416 ) gene were amplified by polymerase chain reaction. The mutation and polymorphism were identified by direct sequencing and restriction digest analysis. A review of the @entity1 ' clinical symptoms and signs was undertaken and a histopathological study on corneal specimen obtained from the proband of one family after keratoplasty was performed. RESULTS: A heterozygous G to A transition at the second @entity377 position of codon 124 of @entity14416 gene was detected in all affected members of both families. This mutation changes an @entity369 residue to a @entity3793 . The clinical diagnosis for @entity13685 was more evident with advancing age. Histopathological study revealed granular deposits in the anterior stroma and occasional positive Congo red areas of @entity527 in the mid to deep stroma typical of @entity13685 . CONCLUSIONS: This is the first report of @entity13685 families in the United Kingdom and, furthermore, of @entity14416 gene mutation in British @entity1 with this rare type of @entity3985 . The results indicate that @entity14416 gene screening along with clinical and histopathological examinations is essential for the diagnosis and clinical management of @entity3985 .
