Blepharophimosis syndrome (BPES), which stands for blepharophimosis, ptosis, epicanthus inverse syndrome, is a rare genetic disorder primarily affecting eyelid development, resulting in a distinct facial appearance. The syndrome is characterized by: Telecanthus: Increased distance between the inner corners of the eyes Ptosis: Drooping of the upper eyelid Epicanthus inversus: Upward fold of skin near the inner corner of the eye These features define BPES. The disruption of the development of the eyelid and associated tissues during embryogenesis is the cause of the structural abnormalities observed in BPES. The severity and subtype of BPES can vary, with some individuals experiencing significant visual impairment from ptosis, whereas others may have cosmetic concerns. The condition is restricted to the structural flaws that are present from birth and does not tend to spread. However, ptosis can lead to other issues, including amblyopia, if left untreated, which emphasizes the need for early detection and surgery. BPES is classified into 2 types. The 4 traditional clinical signs telecanthus, epicanthus inversus, ptosis, and blepharophimosis are present in every form. Type I is linked to early ovarian failure. Only the traditional facial traits define type II. If left untreated, these characteristics are linked to a high risk of amblyopia. Early surgical intervention is necessary for both types to ensure normal development of eyesight. This activity reviews the clinical presentation, assessment, treatment, and management of BPES, emphasizing the role of an interprofessional healthcare team including endocrinologists, genetic counselors, and other medical professionals in optimizing patient care and outcomes.
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