Blepharophimosis

The Blepharophimosis is a narrowing of the eyelid gap in the horizontal plane, which in most cases is congenital and is passed on through autosomal dominant inheritance. Surgical measures are available to treat the symptom, but since these interventions often give unsatisfactory results, it only makes sense to carry out them in the case of particularly serious anomalies.

What is blepharophimosis?

In blepharophimosis syndrome, the horizontal eyelid gap is shortened. At the same time, there is a shortening of tissue of the upper eyelid in the vertical, although the structure of the eyelid corresponds to the general norm.
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In blepharophimosis, the eyelid gap is narrowed in the horizontal direction. In the narrower sense, 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 be related to inflammatory processes in the lid area.

A sub-form of acquired blepharophimosis is senile blepharophimosis, which in the broader sense corresponds to an age phenomenon. 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 related symptoms. The phenomenon is extremely rare, although the therapeutic options are not particularly promising so far.

causes

In almost all cases blepharophimosis is genetic. The appearance is inherited dominantly, i.e. one carrier allele for the defect is sufficient to pass the narrowing on over a generation. In the autosomal dominant mode of inheritance, the affected gene is chromosome three gene locus q23. However, many of the patients also have new mutations, which in turn are related to the FOXL2 gene.

Although the congenital form of blepharophimosis dominates, in rare cases the appearance is acquired through various processes. Acquired blepharophimosis is most often preceded by scarring of the eyelid gap after blepharitis or trachoma. The latter disease is conjunctivitis caused by the chlamydial pathogen.

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

In some cases, the acquired blepharophimosis is accompanied by a relaxation of the eyelid and the Tarsoorbital fascia or a distortion of the corner of the eyelid. The latter phenomenon in particular is a typical age phenomenon caused by the natural relaxation of the Orbicularis oculi muscle is conditioned. Blepharophimosis based on this phenomenon is also known as senile blepharophimosis.

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Symptoms, ailments & signs

In blepharophimosis syndrome, the horizontal eyelid gap is shortened. At the same time, there is a shortening of tissue of the upper eyelid in the vertical, although the structure of the eyelid corresponds to the general norm. Many patients with blepharophimosis syndrome also suffer from amblyopia, which is a decrease in visual acuity, strabismus or abnormal tear ducts.

Blepharophimosis is often accompanied by the so-called mongolian fold, in which one of the eyelids hangs down and the eyes are 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 of 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 & course

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

To determine the form of blepharphimosis, women may need additional fertility tests. Blepharophimosis does not change over the years, but remains static. There can therefore be no question of course, let alone an individual course.

Complications

As a rule, blepharophimosis patients suffer from decreased eyesight. Squinting is also often added to this disorder. This can lead to social and psychological problems, especially in children, as children are often bullied or teased because of it.

Blepharophimosis affects women and men equally differently and can cause different complications in both sexes. This affects women from diseases of the ovaries. In most cases of blepharophimosis, no specific treatment is necessary or possible.

Poor eyesight and squinting can be corrected. In these cases the patient must wear a visual aid. 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. There are no complications here either, but the results are not always satisfactory. In order to avoid complications in adults, the surgical interventions are usually carried out on children. There are no complications here.

When should you go to the doctor?

In blepharophimosis, it is not always necessary to see a doctor. These complaints do not lead to any particular health impairments, so that treatment is not absolutely necessary. However, many patients feel disfigured by blepharophimosis and feel uncomfortable with their bodies, so that a surgical procedure can be performed.

A doctor should therefore be consulted if blepharophimosis leads to psychological complaints or depression. Inferiority complexes or a reduced self-esteem can also be combated by a surgical procedure. In some cases, however, those affected also need psychological treatment to relieve the symptoms.

A doctor should also be consulted if the blepharophimosis leads to strabismus or other visual problems. Usually the ophthalmologist is visited. A surgical procedure can take place in a hospital. As a rule, the symptoms can also be compensated for with a visual aid.

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Treatment & Therapy

For the treatment of blepharophimosis there are only a few options available so far. The only way to correct the deformation is surgery, with the severity of the disease determining the overall benefit of such an intervention for the patient. Since the results of the procedure are often unsatisfactory, most patients choose not to.

If, however, an operation is carried out, the doctor sometimes performs a medial canthoplasty, which primarily serves to correct the epicanthus inversus. As a rule, the operation already takes place in childhood and thus focuses in particular on an age of three to five years. The treatment options for accompanying symptoms such as reduced visual acuity or strabismus have so far been limited to surgical procedures.

Outlook & forecast

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

After the subsequent wound healing, the patient is considered to have healed and can be discharged from 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 prospect of recovery or a delay in healing.

In severe cases, blepharophimosis also has impaired vision. The eyesight is decreased or the patient is cross-eyed. The curability of the functional disorder of the eye is individual and tied to the type of disorder. Many patients can be helped with visual aids or corrective surgery. However, it does not achieve the performance of a healthy eye.

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

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prevention

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

Aftercare

Blepharophimosis does not require significant follow-up care for a simple malformation. The prognosis after an operation is good here. No follow-up care is necessary after healing. The situation is different with a severe form. Even surgery cannot relieve all symptoms.

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

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

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

You can do that yourself

Which self-help measures blephariphimosis patients can take depends primarily on the type and extent of the deformation. Basically, affected people must be treated surgically.

After such an operation, those affected should not engage in any physically strenuous activities and otherwise comply with the doctor's specifications 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. However, should 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 through targeted eye training. Parents should contact an ophthalmologist and work with them 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 - symptoms that can be extremely stressful and should therefore be discussed with a therapist in any case. Self-help groups for affected women are a first point of contact in order to deal with the illness and the consequences it brings with it.