Table 1.
Diagnostic Yield Comparison Among Genotypes of the 744 Inherited Macular Dystrophy Families Recruited Until 2017, After the Restudy of Unsolved Cases
Genotype Groups | ||||
---|---|---|---|---|
Period of Genetic Study | Solved ABCA4 | Solved Other Genes | Monoallelic ABCA4 | Unsolved |
STGD diagnosis group (N = 454) | ||||
Initial technologies | 272 (59.9%) | 1 (0.2%) | 50 (11%) | 131 (28.9%) |
Restudy | 338 (74.4%) | 16 (3.5%) | 15 (3.3%) | 85 (18.7%) |
P value | <0.001 | <0.001 | <0.001 | <0.001 |
CCRD diagnosis group (N = 183) | ||||
Initial technologies | 58 (31.7%) | 31 (16.9%) | 7 (3.8%) | 87 (47.5%) |
Restudy | 73 (39.9%) | 43 (23.5%) | 3 (1.6%) | 64 (35%) |
P value | <0.001 | 0.002 | NS | <0.001 |
OtherMD diagnosis group (N = 107) | ||||
Initial technologies | 6 (5.6%) | 12 (11.2%) | 3 (2.8%) | 86 (80.4%) |
Restudy | 10 (9.3%) | 36 (33.6%) | 3 (2.8%) | 58 (54.2%) |
P value | NS | <0.001 | NS | <0.001 |
NS, nonsignificant.