Table. Sex Distribution Across ABCA4 Allele Categories in 644 Patients With Biallelic Stargardt Disease at Columbia University.
| Mild ABCA4 allele | No. (%)a | |
|---|---|---|
| Women | Men | |
| c.5603A>T | 48 (60.0) | 32 (40.0) |
| c.5882G>A | 82 (54.7) | 68 (45.3) |
| c.5714+5G>A | 16 (59.3) | 11.0 (40.7) |
| c.4253+43G>A | 6 | 9 |
| c.3113C>T | 8 | 4 |
| c.6089G>A | 6 | 4 |
| c.769-784C>Tb | 0 | 0 |
| c.2588G>Cb | 0 | 0 |
| Total mild allele | 166 (56.5) | 128 (43.5) |
| No mild allele | 186 (53.1) | 164 (46.9) |
| Total ABCA4 biallelic | 352 (54.7) | 292 (45.3) |
a
Percentages are presented for 10 or more patients to avoid implying a greater effect and in keeping with Runhart et al.2
b
These variants have not been identified as causal alleles in noncomplex form.