Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome

Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is also referred to as congenital eyelid syndrome or blepharophimosis syndrome. It consists of blepharophimosis, epicanthus inversus, telecanthus, and ptosis. BPES may occur as a sporadic or autosomal dominant disorder. Mutation of the FOXL2 gene has been found to cause both BPES type II (eyelid findings only) and type I (eyelid findings and premature ovarian failure). The palpebral fissures are shortened horizontally and vertically (blepharophimosis), with poor levator muscle function and no eyelid fold (Fig 17-8). The horizontal palpebral fissure length, normally 25–30 mm, is only 18–22 mm in these patients. Repair of the ptosis, usually with frontalis suspension procedures, may be necessary early in life. Because the epicanthus and telecanthus may improve with age, repair of these defects is often delayed.

Figure 17-8 Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES). Note telecanthus as well.

Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009;30(2):158– 169.

Congenital Ptosis

Ptosis (blepharoptosis) is eyelid droop. The condition can be congenital or acquired. It is important to differentiate congenital ptosis from acquired cases with systemic associations (Table 17-1; see also BCSC Section 7, Orbit, Eyelids, and Lacrimal System). Congenital ptosis may be familial. Anisometropic amblyopia and strabismus are common associations.

Table 17-1