BLEPHAROPHIMOSIS SYNDROME

Course overview

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME (BPES) IS A RARE AUTOSOMAL DOMINANT DISEASE OF THE EYELIDS AND MID-FACE STRUCTURES. THERE ARE TWO MAIN TYPES OF BPES. EACH TYPE HARBORS THE FOUR CLASSIC CLINICAL SIGNS: BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS, AND TELECANTHUS. TYPE I IS ASSOCIATED WITH PREMATURE OVARIAN FAILURE. TYPE II IS CHARACTERIZED BY THE CLASSIC FACIAL FEATURES ALONE. THESE FEATURES ARE ASSOCIATED WITH A HIGH INCIDENCE OF AMBLYOPIA IF NOT CORRECTLY MANAGED. BOTH TYPES REQUIRE SURGICAL TREATMENT EARLY IN LIFE FOR NORMAL VISION DEVELOPMENT. THIS ACTIVITY OUTLINES THE PRESENTATION, EVALUATION, AND TREATMENT/MANAGEMENT OF BPES AND HIGHLIGHTS THE ROLE OF GENETIC COUNSELORS, ENDOCRINOLOGISTS, AND OTHER HEALTHCARE PROVIDERS INVOLVED IN MANAGING THESE PATIENTS' CONDITIONS.