Table 2 of
Takacs, Mol Vis 2007;
13:1976-1983.
Table 2. Results of genetic and histological examinations
The table summarizes clinical and genetic diagnoses as well as histological findings for 31 patients with dystrophic corneas and their 7 healthy family members. Previously reported genotype-phenotype correlations have been confirmed. Clinical diagnosis had to be amended based on genetic information in 4 cases (one Reis-Bücklers changed to Thiel-Behnke and 3 atypical granular to Avellino). A new mutation F547S was found in a case of polymorphic corneal amyloidosis. Deposits in all dystrophic corneal buttons contained the NH3-terminal part of the BIGH3 protein.
Number of Molecular Number corneal Immunohistology Clinical genetic of buttons (N-terminal diagnosis diagnosis patients Mutation examined Deposit type BIGH3) --------------- -------------- -------- ------------ -------- ------------- --------------- LCDI LCDI 18 R124C 10 Amyloid Intra- and heterozygous subepithelial deposits stained GCDI GCDI 5 R555W 2 Hyaline All deposits heterozygous stained CDB1 CDB2 1 R555Q 1 Subepithelial All deposits (Reis-Bücklers) (Thiel-Behnke) Heterozygous acidophilic stained fibers CDB2 CDB2 3 R555Q 1 Subepithelial All deposits (Thiel-Behnke) (Thiel-Behnke) heterozygous acidophilic stained fibers Atypical Avellino 3 R124H - - - granular heterozygous Atypical Polymorphic 1 F547S 1 Amyloid All deposits lattice corneal heterozygous stained amyloidosis Healthy family Healthy family 7 None - - - member member |