In this study, novel compound heterozygous frameshift variants M1: c.9279dup:p.H3094Tfs*18 and M2: c.6515_6522del:p.K2172Tfs*37 were detected in the CPLANE1 gene of the proband, who had ocular phenotypes of keratoconus, exotropia, ptosis, and JS-related signs. This evidence concerns the gene CPLANE1 and ptosis.