Congenital anomalies of the eyelid may be isolated or associated with other eyelid, facial, or systemic anomalies. Careful evaluation of patients with hereditary syndromes is helpful before proceeding with treatment. Most congenital anomalies of the eyelids are rare and occur during the second month of gestation as a result of developmental arrest or failure of fusion. (See also BCSC Section 6, Pediatric Ophthalmology and Strabismus.)
Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, is typically autosomal dominant in inheritance, although sporadic mutations can occur. Classic findings include
blepharophimosis (profound shortening of the horizontal, and narrowing of the vertical, palpebral fissures)
telecanthus (increased soft-tissue distance between the medial canthi)
epicanthus inversus (fold of skin extending from the lower eyelid to the medial canthus)
severe bilateral ptosis, often with poor levator function
The syndrome is caused by mutations in the FOXL2 gene, located on chromosome 3. There are 2 types of BPES (types I and II), and both involve abnormalities of the eyelids. In addition to the characteristics listed above, findings may include lateral lower eyelid ectropion secondary to vertical eyelid deficiency, flat nasal bridge, superior orbital rim hypoplasia, ear deformities, high-arched eyebrows, and hypertelorism (Fig 10-1). Type I is also associated with premature ovarian failure, and infertility or reduced fertility in women.
Figure 10-1 Patient with blepharophimosisptosis-epicanthus inversus syndrome (blepharophimosis syndrome).
(Courtesy of Cat N. Burkat, MD.)
Multiple surgeries may be required and are often performed in staged fashion. Medial canthal repositioning is typically addressed first with multiple Z-plasties (Fig 10-2) or with Y–V-plasties, sometimes combined with repositioning of the medial canthal tendons via transnasal wiring or suture fixation to a plate; however, horizontal traction on the upper eyelid may exacerbate the ptosis. Visually obstructive ptosis should be corrected promptly to avoid amblyopia; this procedure can be performed simultaneously with repair of the telecanthus. Additional surgeries may be necessary to address ectropion or orbital rim hypoplasia.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.