Molecular characteristics

LRPAP1 is a gene that produces a protein essential for the maintenance of LRP1 and for the protection from degradation. LRPAP1 mutations negate that protection and lead to a decrease in the levels of LRP1. A decrease in the levels of LRP1 allow an increase in a growth factor called TGF-β in the cells of the affected individual. Increase in TGF-β in turn causes abnormal modelling of the sclera of the eye, thus causing the symptoms described in Clinical Characteristics section.