Figure 3.

Prevalence of ocular and systemic features stratified by the predicted loss of the function allele count. Other anterior segment features included: ectopia lentis et pupillae, iris transillumination defect, iridodonesis, persistent pupillary membrane, poor pupillary dilatation, spherophakia, corectopia, iris coloboma, lens coloboma, posterior synechiae, and iris processes. The posterior segment features included retinal detachment, axial length ≥ 27.0 mm, and posterior staphyloma. The anterior segment features other than ectopia lentis appeared to have been exclusively associated with biallelic loss of function variants (p < 0.001). LoF: loss of function variant; non-LoF: non-loss of function variant. The bold values indicate statistical significance. ^aChi-square test with continuity correction, ^bFisher exact test.