Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size. The nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened. Vignes (1889) probably first described this entity, a dysplasia of the eyelids.
* Blepharophimosis, Epicanthus Inversus, and Ptosis * BPES * Epicanthus Inversus Syndrome, Type II
The diagnosis of BPES is primarily based on clinical findings. Occasionally individuals with BPES have cytogenetic rearrangements, such as interstitial deletions and translocations involving 3q23. FOXL2 is the only gene currently known to be associated with BPES. Mutations are identified in approximately 80% of affected individuals by using a combination of sequence analysis of the coding region (single exon) and deletion testing using methods such as multiplex ligation-dependent probe amplification (MPLA) and fluorescent in situ hybridization (FISH). Such testing is clinically available.