Abstract:The PRSS56 gene encodes a trypsin-like serine protease, which is a key molecule in the regulation of ocular axial length. Loss-of-function mutationin PRSS56 result in a shortened axial length, whereas gain-of-functionmutation promote axial elongation, exemplifying the bidirectional regulatory paradigm often termed “one gene, opposite phenotypes”. At the loss-of-function mutation, the hotspot mutation represented by c.1066 dupC leads to nanophthalmos and posterior microphthalmia by truncation of the protein. The gain-of-function mutation up-regulates the expression of PRSS56, driving excessive axial elongation, resulting in high myopia. This review systematically summarizes the genetic mutation spectrum, molecular regulatory networks, downstream signaling pathways, and translational therapeutic prospects of PRSS56 from both loss-of-function and gain-of-functionmutations.
