Epicanthus Inversus Syndrome ; Definition, Causes, Symptoms, Diagnosis, Treatment скачать в хорошем качестве

Epicanthus Inversus Syndrome ; Definition, Causes, Symptoms, Diagnosis, Treatment

Epicanthus Inversus Syndrome is a condition that primarily affects the development of the eyelids. It is also known as Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES). Here are some key points about this syndrome: Clinical Features: Individuals with this syndrome have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). There is also an increased distance between the inner corners of the eyes (telecanthus)1. Types: There are two types of BPES. Type I is associated with primary ovarian insufficiency in women, leading to early loss of ovarian function. 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 muscles in the eyelids and ovaries. Symptoms: In addition to eyelid abnormalities, individuals may have vision problems such as nearsightedness (myopia) or farsightedness (hyperopia), 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 #EpicanthusInversusSyndrome