Using multiplex ligation-dependent probe amplification (MPLA) and quantitative PCR [15], deletions leading to FOXL2 haploinsufficiency may be detected in individuals with typical BPES in which intragenic mutations were excluded by sequencing of the FOXL2 ORF. The gene discussed is FOXL2; the disease is blepharophimosis, ptosis, and epicanthus inversus syndrome.