Blepharophimosis – Causes, Symptoms & Treatment


Blepharophimosis is a narrowing of the palpebral fissures in the horizontal plane, which is congenital in most cases and is passed on by autosomal dominant inheritance. Surgical measures are available to treat the phenomenon, but since these interventions often deliver unsatisfactory results, they only make sense in the case of particularly severe anomalies.

What is blepharophimosis?

In blepharophimosis, the eyelid gap is narrowed in the horizontal direction. Strictly speaking, it is not a disease, but a congenital anomaly, which in most cases is genetic. Under certain circumstances, however, the phenomenon can also be acquired and associated with inflammatory processes in the eyelid area.

A sub-form of acquired blepharophimosis is senile blepharophimosis, which in a broader sense corresponds to a phenomenon of old age. The basic distinction in the congenital form is the differentiation into type one and two, with the first type in women being associated with additional anomalies of the ovaries.

Blepharophimosis syndrome was first described in 1889 when P. Vignes documented symptoms associated with it. The phenomenon is extremely rare, although the treatment options are not particularly promising.


In almost all cases, blepharophimosis is genetic. The condition is inherited in a dominant manner, meaning that one carrier allele for the defect is sufficient to pass the narrowing down through one generation. The affected gene is autosomal dominant inheritance to chromosome three gene locus q23. However, many of the patients also have new mutations, which in turn are linked to the FOXL2 gene.

Although the congenital form of blepharophimosis dominates, in rare cases the phenomenon is also acquired through various processes. Acquired blepharophimosis is most commonly preceded by scarring of the lid fissure after blepharitis or trachoma. The latter disease is conjunctivitis caused by the chlamydia pathogen.

In this context, the acquired form of the phenomenon is sometimes due to inflammation of the eyelid margins and, like the congenital form, is often associated with reduced visual acuity , but in women it can also be associated with infertility and premature menopause.

In some cases, acquired blepharophimosis is also associated with a relaxation of the lid and the tarsoorbital fascia or a distortion of the corner of the lid. The latter phenomenon in particular is a typical aging phenomenon that is caused by the natural relaxation of the orbicularis oculi muscle . A blepharophimosis based on this phenomenon is also known as senile blepharophimosis.

Symptoms, Ailments & Signs

In blepharophimosis syndrome, the horizontal lid fissure is shortened. At the same time, there is vertical shortening of the tissue of the upper lid, although the structure of the lid corresponds to the general norm. Many patients with blepharophimosis syndrome also suffer from amblyopia , i.e. reduced visual acuity, squinting or abnormal tear ducts.

Often, blepharophimosis is also accompanied by what is known as the Mongolian line, in which one of the eyelids droops and the eyes are also further apart than usual. These special forms of blepharophimosis are also known as blepharophimosis ptosis epicanthus inversus syndrome (BPES) and blepharophimosis epicanthus inversus ptosis syndrome.

Patients with these special forms can be divided into different subgroups. Women of the first type are also affected by a dysfunction of the ovaries, which can manifest itself in premature menopause and infertility. Patients of the second type, on the other hand, do not suffer from any additional symptoms.

Diagnosis & History

The diagnosis of blepharophimosis is made by a doctor who specializes in the treatment of eye diseases and is usually based on visual diagnosis. A determination of visual acuity and eye muscle movement as well as a measurement of the eye opening and eyelid height can also serve diagnostic purposes.

Additional fertility tests may be needed for women to determine the type of blepharphimosis. Blepharophimosis does not change over the years, but remains static. There can therefore be no talk of progression, let alone an individual progression.


As a rule, patients with blepharophimosis suffer from reduced vision. Squinting is also often associated with this disorder. This can lead to social and psychological problems, especially in children, since children are often bullied or teased because of it.

Blepharophimosis also affects women and men differently and can cause different complications in both gender groups. Thus, women are affected by diseases of the ovaries. In most cases, no specific treatment is necessary or possible for blepharophimosis.

Poor eyesight and squinting can be corrected. In these cases, the patient must wear glasses. The glasses are often coated with a prism-like film to compensate for and avoid squinting. This can limit the symptoms of blepharophimosis and there are no complications.

If the person concerned is dissatisfied with their appearance, an operation can be carried out. Although there are no complications here either, the results are not always satisfactory. In order to avoid complications in adults, the surgical procedures are usually carried out on children. Complications do not arise here.

When should you go to the doctor?

In the case of blepharophimosis, a doctor does not always have to be consulted. These complaints do not lead to any particular health impairments, so that treatment is not absolutely necessary. However, many patients with blepharophimosis feel disfigured and uncomfortable with their bodies, so surgery can be performed.

A doctor should therefore be consulted if blepharophimosis causes psychological problems or depression. Inferiority complexes or reduced self-esteem can also be combated through surgery. In some cases, however, those affected also need psychological treatment to alleviate the symptoms.

A doctor should also be consulted if squinting or other visual problems occur as a result of blepharophimosis. This usually involves visiting the ophthalmologist . An operation can take place in a hospital. As a rule, the symptoms can also be compensated for with visual aids.

Treatment & Therapy

So far, only a few options are available for the treatment of blepharophimosis. The only way to correct the deformity is surgery, with the severity of the condition determining the overall benefit of such a procedure to the patient. Since the results of the procedure are often unsatisfactory, most patients decide against it.

However, if an operation is carried out, the doctor sometimes carries out a medial canthoplasty , which primarily serves to repair the epicanthus inversus. As a rule, the operation takes place in childhood and is therefore particularly concentrated on an age of three to five years. The treatment options for accompanying symptoms such as reduced visual acuity or squinting have so far been limited to surgical procedures.

Outlook & Forecast

The prognosis of blepharophimosis depends on the severity of the disease. A simple malformation of the eyelids can be corrected in a surgical procedure. The changes are made in a routine process and only take a few hours.

After the subsequent healing of the wound, the patient is considered cured and can be discharged from the treatment without any symptoms. Nevertheless, the usual risks and side effects of an operation are possible influencing factors that can lead to a deterioration in the chance of healing or delay healing.

In severe cases of blepharophimosis, there is also impairment of the existing vision. The ability to see is reduced or the patient is squinting. The curability of the functional disorder of the eye is individual and linked to the type of disorder. Many patients can be helped with visual aids or corrective surgery. However, this does not achieve the performance of a healthy eye.

If the patient does not seek medical treatment, no improvement in health can be expected. Instead, there is a risk that further impairment of vision may occur. In addition, mental and emotional problems can occur due to the optical change in the face. These weaken the general health of the patient and can lead to the development of mental disorders .


Congenital blepharophimosis cannot be prevented because this form of the eye disease is a genetic defect. Under certain circumstances, however, acquired blepharophimosis can be prevented, for example through regular ophthalmological examinations, the exclusion of chlamydia and regular lid edge hygiene. However, since the anomaly is only acquired in the rarest of cases, these preventive measures are also of little value with regard to the phenomenon.


In the case of a simple malformation, blepharophimosis does not require any significant follow-up care. The prognosis after surgery is good here. After healing, no follow-up care is necessary. The situation is different with a severe progressive form. Even surgical intervention cannot alleviate all symptoms.

The patient is dependent on at least one visual aid for the rest of his life. Recurring examinations by the ophthalmologist are characteristic. Immediately after a procedure, patients must follow certain rules to prevent complications. Above all, this includes adequate hygiene. If the patients are children, their parents are responsible. Eye training can also help sometimes.

An ophthalmologist can provide information on everyday tips. Blepharophimosis is genetic. Sick people therefore have no significant influence on inhibiting an occurrence. But many feel psychologically under pressure. Because in addition to reduced eyesight, those affected also noticeably suffer from squinting.

This often leads to them avoiding contact with other people. Your self-esteem is lowered. You feel disfigured. In order to reduce these psychological consequences, doctors can prescribe psychotherapy. Sometimes skilfully used cosmetics can help.

You can do that yourself

Which self-help measures blephariphimosis patients can take depends primarily on the type and severity of the deformity. In principle, affected persons must be treated surgically.

After such an operation, those affected should not engage in any physically demanding activities and otherwise comply with the doctor’s instructions regarding personal hygiene and wound care. Parents of sick children should ensure that the surgical scar heals without complications and that there are no other problems. If, however, unusual symptoms or complaints become noticeable, the responsible doctor or the medical emergency service must be informed immediately.

Under certain circumstances, visual problems can be alleviated by targeted eye training. Parents should consult an ophthalmologist and work with him to develop an individual therapy that is tailored to the child’s state of health.

In most cases, affected women suffer from premature menopause and infertility – complaints that can be extremely stressful and should therefore be discussed with a therapist in any case . Self-help groups for affected women are the first point of contact to process the disease and the consequences it brings with it.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.