Blepharophimosis syndrome is also known as ptosis and epicanthus inversus syndrome. BPES is referred as an uncommon developmental condition which affects the eyelids as well as ovary. Generally, there are four types of major facial features that are present from birth such as droopy eyelids, narrow eyes, an upward fold of skin or the inner lower eyelids with widely set eyes. Thus, Blepharophimosis surgery is the only way to get rid of this syndrome.

 

Blepharophimosis syndrome is divided into two subdivisions such as:

  1. BPES Type1:

In medical term, this is premature ovarian insufficiency (POI) in females. Through this, the menstrual period’s frequency eventually stops at the age of 40.

 

  1. BPES Type2:

This does not involve any kind of infertility. Type 2 is characterized by malformation of the eyelids. Blepharophimosis is a disorder in which the eyelids suffer from malformation. This is categorized into four distinct features such as:

  • Blepharophimosis
  • Ptosis
  • Epicanthus inversus
  • Telecanthus

Thus, combining the above features together form a single term i.e. BPES syndrome. Therefore in this, the nose is noted to be flat.

 

Symptoms of Blepharophimosis syndrome:

Some of the symptoms which you can notice in people suffering from Blepharophimosis are categorized below:

  • Broad and low nasal bridge
  • Arched eyebrows
  • Cup-shaped ears
  • Strabismus
  • Abnormalities with lacrimal drainage
  • Narrowing of the eye
  • Optic disc coloboma
  • Upward folding of the inner corners of the eye
  • Farsightedness or hyperopia
  • Nearsightedness or myopia
  • Droopy nature of the eyelids
  • Lazy eye or amblyopia
  • Unclear vision as eyelids does not open fully

 

Treatment of Blepharophimosis syndrome:

Proper diagnosis is required to implement the best treatment. Diagnose procedure is based on gene testing for any kind of abnormalities in FOXL2 gene.

Blepharophimosis Treatment is possible by a specialist such as an endocrinologist, oculoplastic surgeon, geneticist, pediatric ophthalmologist, gynecologists. The treatments for Blepharophimosis syndrome include:

 

Surgery

In Blepharophimosis surgery the eyelids are modified with the help of medial canthoplasty. This surgery process is used to rectify the damages by epicanthus or Blepharophimosis as well as telecanthus. This procedure is implemented on a child between 3-5 years.

 

Later, ptosis correction takes place it is a surgical operation for correction of brow suspension.

Telecanthus is operated by reducing the medial canthal length. After that, a tendon is combined with a transnasal wire.

 

For correction of epicanthus, if a fold is not big, then Y-V canthoplasty is done. And if a fold is big enough, a double Z canthoplasty is done.