Progressive external ophthalmoplegia is also known as ophthalmoplegia progressiva externa and is one of the neuro-ophthalmological diseases. A special form of the disease is ophthalmoplegia plus (CPEO plus).
What is progressive external ophthalmoplegia?
Progressive external ophthalmoplegia is caused by mitochondrial dysfunction. This mitochondriopathy leads to a slowly increasing paralysis of the outer eye muscles. The lid lifter is also affected by the paralysis. If other symptoms occur, CPEO plus is present. See healthknowing for What is the Definition of Lupus Nephritis.
The disease cannot be cured. Although the disease is inherited, it can develop at any age. The following applies: The earlier the first symptoms appear, the more severe the course of the disease. The treatment is therefore purely symptomatic.
The cause of progressive external ophthalmoplegia is mitochondriopathy. Mitochondriopathies are diseases caused by damage or dysfunction of the mitochondria. Mitochondria are cell organelles that provide energy in the form of ATP. Without ATP, the cells are no longer sufficiently supplied with energy.
The inherited mitochondriopathies arise from gene mutations. The enzymes and the metabolic pathways of the cell organelle are affected. Various mutations and losses of DNA sections (deletions) at position 3243 of the mtDNA could be identified as the cause of progressive external ophthalmoplegia. These defects in mitochondrial DNA cause disruptions in the mitochondrial respiratory chain.
In CPEOplus, two to eight kb deletions are found in half of the cases. Duplications of the mitochondrial DNA can also be observed very rarely. In rare cases, autosomal recessive cases with nuclear gene changes occur. This leads to multiple deletions of the mtDNA.
Symptoms, Ailments & Signs
A characteristic sign of the disease is a drooping eyelid. In medical jargon, this phenomenon is also referred to as ptosis. Ptosis results from paralysis of the levator palpebrae superioris muscle. Usually both eyes are affected by this paralysis.
The mobility of the eyes is severely restricted due to the paralysis of the extraocular muscles. In contrast to diseases associated with central gaze paralysis, all eye-moving brainstem functions such as optokinetics, vestibulo-ocular reflex and saccades are intact in progressive external ophthalmoplegia.
Due to the severe paralysis of the eye muscles, however, they cannot be carried out so quickly. With CPEOplus, the symptoms are supplemented by other muscular weaknesses. These are particularly evident in the extremities, on the face and in the area of the swallowing muscles. The affected patients suffer from swallowing difficulties and muscle weakness in the arms and legs.
The conduction of impulses in the heart is disrupted, resulting in cardiac arrhythmias. Cardiomyopathies with angina pectoris, fainting or embolism can also be symptoms of CPEOplus. In addition, endocrinopathies develop, which can manifest themselves in the form of diabetes mellitus, delayed puberty or short stature.
The affected patients also suffer from sensory disturbances, peripheral paralysis or changes to the skin. Dementia or impaired movement coordination are also possible consequences of CPEOplus.
The transition to Kearns-Sayre syndrome, a CPEO with degenerative changes in the retina, is fluid. When the central nervous system is affected by the condition, it can cause sensorineural hearing loss , mental retardation, or what is known as cerebellar ataxia.
Diagnosis & course of disease
Lactic acid overload is the main finding in progressive external ophthalmoplegia. This condition is also known as lactic acidosis. In a metabolic diagnosis, the organic acids in the urine and the amino acids in the blood serum are determined in addition to the lactic acid value.
Creatine kinase, lactate dehydrogenase, resting lactate and pyruvate should also be measured in the blood. Neurological examinations, electromyography and a muscle biopsy confirm the diagnosis. The determination of a thyroid hormone and antibody status is strongly recommended, as is electroneurography.
However, the clinical signs of progressive external ophthalmoplegia are often so clear that a relatively reliable diagnosis can be made on the basis of the symptoms. In the differential diagnosis, however, myasthenia, paralysis of vision, lesions of the brainstem, senile ptosis, fibrosis syndrome and paresis of the oculomotor nerve must be ruled out.
Due to the disease, those affected suffer from various paralysis and sensory disorders. The eyelids in particular are affected by the paralysis, so that they can no longer be moved easily. The paralysis can also affect the eyes themselves, so that the affected person can no longer move their eyes in different directions.
The patient’s quality of life is significantly restricted and reduced by the disease. It also leads to muscle weakness and heart problems. Those affected continue to suffer from swallowing disorders, so that there are clear symptoms when taking liquids and food. Diabetes or short stature can also occur. The development of children is severely delayed and disrupted by the disease, so that serious complications or symptoms usually also occur in adulthood.
Furthermore, the puberty of those affected is often delayed. Since the patients in many cases also suffer from an increased retardation, they are often dependent on the help of other people in their everyday life. This disease may also result in a significantly reduced life expectancy for the patient.
When should you go to the doctor?
The first and characteristic feature of progressive external ophthalmoplegia is a drooping eyelid in sufferers. A visit to the doctor should be initiated immediately if this optical peculiarity develops. Visual impairment, eye movement disorders, and paralysis are concerns. You should be examined and treated by a doctor as soon as possible.
A doctor should be consulted if there is an increase in falls, an increasing risk of accidents and impaired vision. If the person concerned suffers from a weakness in muscle strength, low physical performance or a decrease in the usual resilience, a doctor should be consulted. Symptoms of the act of swallowing, a refusal to eat or an undersupply of the organism must be clarified by a doctor. Functional disorders, growth retardation or the delayed onset of puberty should be discussed with a doctor.
A doctor is needed in the case of abnormalities in the natural movement sequences, reduced mental competence and memory disorders. Sensitivity disorders, changes in the usual skin appearance and ataxia must be examined and treated by a doctor. In particular, abnormalities in the coordination of movements should be understood as a warning signal from the organism. Disorders of heart rhythm and consciousness also need to be investigated. In severe cases, an emergency service must be alerted.
Treatment & Therapy
Progressive external ophthalmoplegia cannot be cured. The drooping eyelid is usually treated surgically. In most cases, a surgical frontalis suspension is performed with silicone. The surgical treatment of ptosis is not only for aesthetic reasons. The cornea can dry out if the eyelids are not closed or are incomplete.
The result would be an exposure keratopathy. If the patient sees double, prism glasses can help. In severe cases, however, a squint operation may also be necessary. Since both eyes are affected by the paralysis in most patients, squinting is a symptom that is rarely encountered.
A primary deficiency of coenzyme Q10 has been demonstrated in some patients with progressive external ophthalmoplegia. Therapy with 50 to 300 milligrams of coenzyme Q10 per day can be promising here. With this treatment, the defects in the respiratory chain are to be bypassed so that sufficient production of ATP is possible despite the defects.
Preparations such as riboflavin, L-carnitine, idebenone or creatine monohydrate are also used to treat the disease.
Progressive external ophthalmoplegia is an inherited condition. So it cannot be prevented. However, some studies show that the underlying mitochondrial disease preferentially develops and/or worsens when the organism is stressed by environmental factors. Damaging factors such as smoking or exposure to harmful substances should therefore be avoided if mitochondriopathy is known.
The disease can be strengthened with a positive mood and emotional stability of those affected. Especially in the bad cases, sufferers should always try to keep a good mood. The things that were enjoyed before the illness should be planned with the social environment and done again. Those affected should always maintain contact with family members.
This means that you can always ask for help and support from family members if you need it. Those affected must attend the regularly scheduled examinations so that their state of health can be determined by a doctor. The condition can also affect diet. For this reason, it is important that those affected pay attention to a vitamin-rich and balanced diet. In order not to aggravate the disease, those affected should absolutely avoid alcohol and nikton-containing substances.
Long-term psychological counseling is recommended so that those affected learn how to deal with the disease appropriately. Joining a self-help group is also beneficial. In this way, those affected can exchange ideas with others who are also ill and find other ways of dealing with the disease. This increases the quality of life of those affected, which has fallen sharply as a result of the disease.
You can do that yourself
Progressive external ophthalmoplegia can be counteracted in everyday life primarily through a positive attitude towards life. This is especially true for the tougher cases, where there are other weaknesses in addition to the eye muscles, such as swallowing or the extremities.
Regular diagnostic examinations are essential for patients to determine their health status. The doctor analyzes the values and determines how severely the muscles and possibly also the heart are affected. Sometimes the disease has a negative effect on the intake of food. It is all the more important to ensure a balanced diet in order to prevent possible symptoms such as diabetes.
Psychotherapeutic treatment is recommended so that the quality of life does not suffer too much. Both children and adults feel limited in their activities. Self-esteem falls, especially during puberty, which is usually delayed by the disease. Therefore, those affected should learn to accept the help of other people. The support of relatives and friends has great practical benefits, especially in connection with the increased risk of accidents due to weakened eyesight.