CRYBB2 encodes βB2-crystallin, a dominant structural protein of the vertebrate eye lens critical for lens transparency and visual perception 1. As a lens-specific structural component, CRYBB2 maintains protein-protein interactions essential for lens fiber cell organization and solubility 2. Mutations in CRYBB2 cause autosomal dominant congenital cataracts through various mechanisms: missense mutations can increase protein hydrophobicity, impair solubility, or alter disulfide bonding patterns, leading to protein aggregation and lens opacity 23. De novo gene conversion events between CRYBB2 and its pseudogene CRYBB2P1 represent an important mutational mechanism in cataract families 14. Beyond ocular function, CRYBB2 is expressed in brain regions including the hippocampus and cerebral cortex, where it influences sensorimotor gating and memory function 5. In diabetic retinopathy, CRYBB2 expression increases in males but not females, suggesting sex-dependent roles in retinal stress responses 6. CRYBB2 variants have also been associated with schizophrenia-related endophenotypes affecting cognitive performance 57. Exon 6 represents a particularly mutation-susceptible region for cataract-causing variants 2.