A Baby With Droopy Eyelids

Discussion

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare autosomal dominant syndrome that was first described in 1921. It is characterized by 4 features: narrowed horizontal palpebral fissure, ptosis, telecanthus, and epicanthus inversus.^[1,2] The ptosis is bilateral, symmetric, and generally severe. Patients usually compensate for the ptosis by adopting a chin-up head posture to allow their eyelids to clear the visual axis. Frontalis muscle recruitment is also common in these patients as they try to compensate for the ptosis.^[1]

Diagnosis of BPES is generally made through clinical assessment.^[1] The syndrome occurs in approximately 1 in 50,000 infants.^[2] The transmission is believed to be autosomal dominant, although many cases have been reported to have occurred by de novo gene mutation.^[2] Autosomal recessive inheritance has also been documented in a BPES type I family in Southern India.^[3] BPES is known to occur due to a mutation in the FOXL2 gene (forkhead transcription factor gene 2) on chromosome 3q23.^[1,2]

BPES has 2 types: BPES type I and BPES type II. Type I involves the 4 characteristics described above but is also associated with female premature ovarian failure. As a result, women with BPES type I are infertile. Penetrance for type I is complete with male transmission. BPES type II also involves the 4 characteristics described above but is not associated with premature ovarian failure. In BPES type II, penetrance is incomplete.^[1,2]

BPES is associated with a number of other ocular abnormalities such as microphthalmia, lacrimal drainage abnormalities, optic disc colobomas, and strabismus.^[1] Strabismus occurs in over 20% of patients with BPES. Amblyopia also occurs more frequently and may be secondary to strabismus or ptosis.^[1] In addition to their ocular findings, patients with BPES often have flat and broad nasal bridges, arched palates, and cupped ears. Several case reports have also found an association with mental retardation, but this association is not certain.^[1] Many patients also have lateral displacement of the inferior punctum.^[4]

Management generally involves promoting normal visual development, addressing cosmetic concerns, and improving chin-up head posture. In addition to oculoplastic concerns, assessment for strabismus, amblyopia, and refractive error is imperative.

Surgical management of eyelid abnormalities can be complex and is often addressed in a stepwise approach. Medial canthoplasty may be considered to address the telecanthus and epicanthus inversus. Ptosis is generally corrected with a frontalis sling.

In addition to ophthalmic management, patients should be evaluated by a geneticist so that family history can be reviewed and appropriate genetic testing and counseling performed. In addition, it is important to differentiate between types I and II so that infertility can be addressed if necessary.

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Cite this: Kimberly G. Yen. A Baby With Droopy Eyelids - Medscape - Sep 14, 2011.