Human mutations in LRP2, a non-specific co-receptor of SHH also known as megalin, can lead to Donnai–Barrow syndrome, in which large ocular globes can be associated with high myopia and partial colobomas, in contrast to Lrp2-mutant mice presenting micro/anophthalmia (Kantarci et al. 2007). The gene discussed is LRP2; the disease is coloboma.