Blepharophimosis or Blepharophimosis Syndrome ; Definition, Causes, Symptoms, Diagnosis, Treatment скачать в хорошем качестве

Blepharophimosis or Blepharophimosis Syndrome ; Definition, Causes, Symptoms, Diagnosis, Treatment

Blepharophimosis Syndrome, also known as Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES), is a genetic disorder that affects the development of the eyelids. Here are some key points about BPES: Clinical Features: Individuals with BPES have narrow eye openings (blepharophimosis), droopy eyelids (ptosis), upward folds of skin on the lower eyelids (epicanthus inversus), and widely spaced eyes (telecanthus). Types: There are two types of BPES. Type I is associated with primary ovarian insufficiency (early loss of ovarian function), while Type II does not have systemic associations. Genetic Cause: BPES is caused by mutations in the FOXL2 gene, which is involved in the development of the eyelids and ovaries. Symptoms: In addition to eyelid abnormalities, individuals may have vision problems, strabismus (misaligned eyes), and distinctive facial features like a broad nasal bridge and low-set ears. Management: Treatment may involve surgical correction of the eyelid malformations and addressing any associated vision problems #Blepharophimosis #BlepharophimosisSyndrome