Blepharophimosis, ptosis, and epicanthus inversus syndrome

Blepharophimosis, ptosis, and epicanthus inversus syndrome (also called BPES) is a condition that mainly affects the development of the eyelids. People with this condition 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). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.

People with BPES are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia). They may also have eyes that do not point in the same direction (strabismus) and lazy eye (amblyopia) affecting one or both eyes.

There are two types of BPES. Type I consists of the four major features of blepharophimosis, ptosis, epicanthus inversus, and telecanthus, plus premature ovarian failure. Premature ovarian failure causes a woman's menstrual periods to become less frequent and eventually stop before age 40. Premature ovarian failure can lead to difficultly conceiving a child (subfertiliy) or a complete inability to conceive (infertility). Type II consists of only the eyelid malformations.

The prevalence of BPES is unknown.

Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is involved in the development of the eyelids and the ovaries before birth. The FOXL2 protein is also active in the ovaries throughout adult life.

Some FOXL2 gene mutations impair development of the eyelids only, while others also affect development of the ovaries. Mutations that affect the functioning of the FOXL2 protein in the eyelids and ovaries result in BPES type I. Mutations that affect the functioning of FOXL2 protein only in the eyelids result in BPES type II.

Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown.

Read more about the FOXL2 gene.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.