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. 2022 Feb 4;63(2):11. doi: 10.1167/iovs.63.2.11

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.