In humans, frameshift HSPB4 de novo mutations are reported in patients suffering from congenital aphakia, which is a developmental defect characterized by lens absence, microphthalmia, microcornea, and iris hypoplasia/aniridia (Marakhonov et al. 2020; Tedesco et al. 2022). The gene discussed is CRYAA; the disease is Congenital aphakia.