Blepharophimosis: Causes, Symptoms & Treatment

Blepharophimosis is a narrowing of the palpebral fissure in the horizontal plane, which in most cases is congenital and passed on by autosomal dominant inheritance. Surgical measures are available to treat the condition, but because these procedures often produce unsatisfactory results, it makes sense to perform them only in cases of particularly severe abnormalities.

What is blepharophimosis?

In blepharophimosis, the palpebral fissure of the eye is narrowed in a horizontal direction. It is not a disease in the strict sense, but a congenital abnormality that is genetic in most cases. Under certain circumstances, however, the phenomenon may also be acquired and be associated with inflammatory processes in the eyelid region. A subtype of acquired blepharophimosis is senile blepharophimosis, which in a broader sense corresponds to a phenomenon of old age. The basic distinction in the context of the congenital form is the differentiation into type one and type two, with the first type being associated with additional ovarian abnormalities in women. Blepharophimosis syndrome was first described in 1889, when P. Vignes documented associated symptoms. The condition is extremely rare, and therapeutic options have not been particularly promising to date.

Causes

In nearly all cases, blepharophimosis is genetic. The condition is dominantly inherited, meaning that one carrier allele for the defect is sufficient to pass on the narrowing over one generation. The affected gene is chromosome three gene locus q23 in the autosomal dominant mode of inheritance, but many of the patients also have new mutations, again associated with the FOXL2 gene. Although the congenital form of blepharophimosis dominates, in rare cases, however, the phenomenon is also acquired by various processes. Most commonly, acquired blepharophimosis is preceded by scarring of the palpebral fissure following blepharitis or trachoma. The latter condition is conjunctivitis caused by the chlamydial pathogen. In this context, the acquired form of the phenomenon is sometimes due to inflammation of the eyelid margins and, just like the congenital form, is often associated with reduced visual acuity, but in women it may also be associated with infertility and premature onset of menopause. In some cases, acquired blepharophimosis is also associated with drooping of the eyelid and fascia tarsoorbitalis or distortion of the eyelid angle. Especially the latter phenomenon is a typical age phenomenon caused by the natural slackening of the orbicularis oculi muscle. Blepharophimosis based on this phenomenon is also called senile blepharophimosis.

Symptoms, complaints, and signs

In blepharophimosis syndrome, the horizontal palpebral fissure is shortened. At the same time, there is a shortening of tissue of the upper eyelid vertically, although the eyelid structure conforms to the general norm. Many patients with blepharophimosis syndrome also suffer from amblyopia, i.e. a reduction in visual acuity, strabismus or abnormal tear ducts. Blepharophimosis is also often associated with the so-called Mongolian fold, in which one of the eyelids droops and the eyes also lie 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 types can be divided into different subgroups. Women of the first type are additionally affected by ovarian dysfunction, which may be manifested by premature onset of menopause and infertility. Patients of the second type, on the other hand, do not suffer from any additional symptoms.

Diagnosis and course

The diagnosis of blepharophimosis is made by a physician who specializes in the treatment of eye diseases and is usually made by visual diagnosis. A determination of visual acuity and eye muscle movement, as well as a measurement of the eye opening and eyelid height, may also serve diagnostic purposes. To determine the form of blepharphimosis, additional fertility testing may be required for women. Blepharophimosis does not change with the years, but remains static. Therefore, there is no question of progression let alone an individual course.

Complications

Usually, patients with blepharophimosis suffer from decreased visual acuity. This disorder is often accompanied by strabismus. This can lead to social and psychological problems, especially in children, as 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 vision and strabismus can be corrected. In these cases, the patient must wear visual aids. Often, glasses are coated with a prism-like film to compensate and prevent squinting. This can limit the symptoms of blepharophimosis and no complications will occur. If the affected person is dissatisfied with his appearance, a surgical procedure can be performed. In this case, complications do not occur, but the results are not always satisfactory. In order to avoid complications in adults, surgical procedures are usually performed in children. Complications do not occur here.

When should you go to the doctor?

In the case of blepharophimosis, it is not necessary to see a doctor in every case. By these complaints it does not come to special gesundheitliche Beeinträchtigugen, so that a treatment is also not compellingly necessary. However, many patients feel disfigured by blepharophimosis and uncomfortable with their bodies, so that surgical intervention may be necessary. A doctor should therefore be consulted if blepharophimosis causes psychological discomfort or depression. Inferiority complexes or lowered self-esteem can also be combated by surgical intervention. In some cases, however, those affected also depend on psychological treatment to alleviate the symptoms. A doctor should also be consulted if blepharophimosis causes squinting or other vision problems. This usually involves a visit to the ophthalmologist. A surgical intervention can take place in a hospital. Usually, the discomfort can also be compensated by a visual aid.

Treatment and therapy

To date, only a few options are available for the treatment of blepharophimosis. Only surgery can be performed to correct the deformity, and the severity of the condition determines the overall benefit of such an intervention for the patient. Since the results of surgery are often unsatisfactory, most patients decide against it. However, if surgery is performed after all, the physician sometimes performs a medial canthoplasty in the course of it, primarily to correct the epicanthus inversus. As a rule, the operation is performed in childhood and thus concentrates in particular on an age range of three to five years. Treatment options for associated symptoms such as reduced visual acuity or strabismus have also been limited to surgical procedures.

Outlook and prognosis

The prognosis of blepharophimosis depends on the severity of the condition. In the case of a simple malformation of the eyelids, correction can be achieved in a surgical procedure. The changes are made in a routine process and take only a few hours. The patient is considered cured after the subsequent wound healing and can be discharged from the treatment free of symptoms. Nevertheless, the usual risks and side effects of surgery are possible influencing factors that can lead to a worsening of the healing outlook or delay of healing. In severe cases of blepharophimosis, there are additional impairments of the existing vision. The visual ability is reduced or the patient squints. 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, the performance of a healthy eye is not achieved with them. If the patient does not take advantage of medical treatment, no improvement in the state of 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 visual changes in the face. These weaken the general health of the patient and can lead to the development of mental disorders.

Prevention

Congenital blepharophimosis cannot be prevented, as this form of eye disease is a genetic defect. Acquired blepharophimosis can be prevented under certain circumstances, however, such as through regular ophthalmologic examinations, exclusion of chlamydia, and regular eyelid margin hygiene. However, because the anomaly is acquired only in the rarest of cases, even these preventive measures are of rather little value with respect to the phenomenon.

Follow-up

Blepharophimosis does not require significant follow-up in cases of simple malformation. Indeed, the prognosis after surgical intervention is good in this case. Thus, no follow-up is necessary after a cure. The situation is different in the case of a severe form of progression. Even a surgical intervention is not able to alleviate all symptoms. The patient is dependent on at least one visual aid for the rest of his life. Recurrent examinations by the ophthalmologist are characteristic. Immediately after surgery, patients must follow certain rules to prevent complications. These include, above all, adequate hygiene. If the patients are children, their parents are responsible. Sometimes eye training can also help. An ophthalmologist can provide information on everyday tips. Blepharophimosis is genetically determined. Sufferers therefore have no significant influence to inhibit an occurrence. Many feel however psychologically under pressure. For in addition to the reduced visual acuity, those affected also suffer recognizably from strabismus. This not infrequently leads them to avoid contact with other people. Their self-confidence is lowered. They feel disfigured. To alleviate these psychological consequences, doctors can prescribe psychotherapy. Sometimes cleverly applied cosmetics also provide relief.

This is what you can do yourself

What self-help measures blephariphimosis patients can take depends primarily on the type and severity of the deformity. Basically, affected individuals must be treated surgically. After such an operation, affected persons should not engage in any physically strenuous activities and should otherwise comply with the physician’s instructions regarding personal hygiene and wound care. Parents of affected children should ensure that the surgical scar heals without complications and that no other problems occur. However, if any unusual symptoms or discomforts should become apparent, the responsible physician or the emergency medical service must be informed immediately. Visual complaints can possibly be alleviated by targeted eye training. Parents should consult an ophthalmologist and work out an individual therapy together with him or her that is tailored to the child’s state of health. Affected women usually suffer from premature onset of menopause and infertility – complaints that can be an enormous burden and should therefore be discussed with a therapist in any case. Support groups for affected women are a first port of call for dealing with the condition and the consequences it brings.