Blepharophimosis Ptosis Epicanthus Syndrome: A Case Report
Abstract
Blepharophimosis ptosis epicanthus syndrome (BPES) is a rare disorder associated with maldevelopment of oculofacial structures.1 It is characterized by shortened horizontal palpebral fissure, ptosis, epicanthus inversus and telecanthus2,3,4. It is usually bilateral and may be asymmetrical5 . Other features include ectropion, low nasal bridge, microphthalmos, divergent strabismus and amblyopia. Also, cardiac defects, mild mental retardation and psychological challenge from facial appearance may occur.2,4 In females, premature ovarian failure may be present.1,2,6 BPES is usually inherited in autosomal dominant fashion, but may be sporadic.5,7,8 It is due to mutation of the FOXL2 gene, located in 3q23, causing maldevelopment of eyelids and ovaries.5,9 Different phenotypes, BPES types 1 and 2 occur.1,10 Staged surgery is advocated, usually at age 3-5 years.3
References
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