Table 2 of
Takacs, Mol Vis 2007;
13:1976-1983.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
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