Table 5.
A summary of the severity classification of the variants described by Curtis et al. [161].
Class | ABCA4 Expression | Basal ATPase Activity | Stimulation by N-Ret-PE |
---|---|---|---|
1 | Significantly reduced | <50% | Not stimulated |
2 | Partial reduction | 50–80% | Modestly stimulated |
3 | Comparable to WT | Comparable to WT | Comparable to WT |