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. 2023 Jun 9;13:9380. doi: 10.1038/s41598-023-35889-9

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.