Table 5.
Median central retinal thickness (CRT), optical coherence tomography (OCT) atrophy area (AA) and age for patients homozygous for ABCA4 c.4539 + 2028C > T and who carry ABCA4 c.4539 + 2028C > T in trans with a null or null-like variant, mild variants in trans with a null or null-like variant and intermediate in trans with a null or null-like variant.
| Genotype | Median CRT (microns) | Median OCT AA horizontal width (microns) | Median age (years) | Sample size |
|---|---|---|---|---|
| c.4539 + 2028C > T Homozygotes | 164.5 (R:73–256) | 2401.6 (R:2182–2621) | 47.5 (R:37–58) | 2 |
| c.4539 + 2028C > T + null/null-like | 122 (R:72–164) | 3908 (R:1064–4919) | 36.5 (R:21–60) | 4 |
| Mild + null/null-like | 124 (R:87–195) | 2480 (R:1470–6000) | 33 (R:13–54) | 5 |
| Intermediate + null/null-like | 116(R:83–127) | 5444 (R:1933–6000) | 38.5 (R:17–50) | 9 |
R range.