Leber ‘s Optic Atrophy is a rare inherited disorder that affects eye health. Despite its slightly misleading name, the disease has nothing to do with the liver: the name comes from its discoverer, the ophthalmologist Theodor Carl Gustav von Leber. It affects the optic nerve (optic nerve) and is of genetic origin.

With a frequency of 1 in 50,000 to 1 in 100,000, Leber’s optic atrophy is rare in the general population. It mainly affects men between the ages of 15 and 35. The disease rarely breaks out in childhood. There is currently no established treatment method for Leber’s optic atrophy. The disease therefore reduces the eyesight of almost all those affected by two to five percent. Medicine counts Leber’s optic atrophy among the mitochondriopathies. This is a group of diseases whose cause lies in the mitochondria of the body’s own cells.

causes

Leber’s optic atrophy is passed from one generation to the next in women. Medicine calls this form of inheritance maternal (maternal) heritability. Nevertheless, Leber’s optic atrophy breaks out much more rarely in women themselves. A point mutation in the gene sequence of the mitochondria is responsible. Mitochondria are special organelles found in every animal cell.Biology also calls them “power plants of the cell” because they are indispensable for the cell respiration of animal (and thus also human) cells. During this biochemical process, the mtochondria form chemically bound energy (ATP), which the cell can use directly. From a genetic point of view, mitochondria are distinguished from other cell components by a special feature: They have their own genetic information, while the DNA in the cell nucleus stores the genes of other organelles.

According to the endosymbiont hypothesis, the mitochondria were still independent mini-organisms at an early point in evolution, in the unicellular stage. Through symbiosis with other cells, they possibly merged into the larger protozoa, which enabled them to benefit significantly from the host’s metabolism. As a result, according to the theory, they survived evolutionary selection and can only be found today as organelles.

However, the mitochondria owe this development that their genes do not belong to the cell nucleus DNA, but form their own nuclein chains in the mitochondria. In Leber’s optic nerve atrophy, the mutation occurs in this mitochondrial gene sequence. It affects positions 3460, 11778 and 14484. Since only mothers pass on their mitochondria to their children, men cannot be considered carriers of this hereditary disease.

Symptoms, Ailments & Signs

Affected people may notice Leber’s optic atrophy at an early stage due to the impairment of color perception: At the beginning, they are less able to distinguish between red and green . In the advanced stage, Leber’s optic atrophy also causes the patient to be unable to see clearly in the visual center . Those affected often try to compensate for this weakness unconsciously by looking past the actual object of their interest.

As a result, the eye no longer sees that object with the nerves of the visual center, but with the peripheral sensory cells. Since Leber’s optic atrophy does not yet affect the peripheral areas of vision at this point in time, sufferers can at least partially compensate for the limitation by looking past them.

It is also typical for Leber’s optic atrophy to initially affect only one eye before the symptoms spread to the second eye after some time. There can be a period of up to nine months in between. However, the symptoms in the second eye can also manifest themselves after just a few days. Furthermore, visual field defects (scotomas) are a potential sign of Leber’s optic atrophy.

Diagnosis & course of disease

The symptoms described above justify a suspicion of Leber’s optic atrophy; an examination of the optic nerve is required for diagnostic clarification. An optical procedure can make the background of the eye visible and thus provide more precise information about its condition. Doctors not only have to distinguish where the cause of the symptoms lies; the differentiation of Leber’s optic atrophy from other forms of optic atrophy is also important.

Since the disease cannot usually be treated successfully today, those affected must expect a drastic reduction in their vision. Frequently only two to five percent of the original visual performance is preserved.

complications

In this disease, those affected primarily suffer from discomfort in the eyes. These can express themselves very differently. As a rule, at the beginning of the disease there is a red-green weakness, so that those affected are significantly restricted in their everyday life. Furthermore, the disease also leads to a significant reduction in visual acuity, so that patients are usually dependent on glasses or contact lenses.In the worst case, the disease can also lead to complete blindness of the patient, which is also associated with considerable limitations in everyday life. The disease also spreads to the other eye and leads to these symptoms there as well. It is not possible to treat blindness. It is not uncommon for loss of vision and other sensory disturbances to occur.

Treatment of this condition is carried out with the help of drugs. Although there are no complications, the symptoms cannot usually be completely reduced. However, the disease does not affect the patient’s life expectancy, so this is not reduced.

When should you go to the doctor?

If your eyesight is impaired, you should see a doctor as soon as possible. Changes in vision are considered unusual and must always be medically clarified. If vision becomes blurred and people or objects are no longer recognized as usual, it is advisable to consult a doctor. There is cause for concern when there are limitations in spatial vision. A doctor should be consulted to prevent severe or sudden deterioration. If the ability to see is reduced in direct comparison to other people, a check-up should be arranged.

If vision continues to decrease, the cause of the symptoms must be clarified so that timely treatment can be initiated. If the colors red and green cannot be clearly distinguished from each other, the person concerned should discuss the observations with my doctor. If the patient notices that he is increasingly looking past the targeted objects in order to see their contours more clearly, a doctor’s visit is necessary. If the vision in both eyes is different, this should be examined and tested by a doctor. If you experience headaches, dizziness or a feeling of pressure in your head, it is advisable to consult a doctor. A doctor should be consulted if there is a diffuse feeling of illness, pain in the eyes and orbits or if there is an increased risk of an accident.

Treatment & Therapy

Apart from some experimental therapeutic approaches, there is no known effective treatment for Leber’s optic atrophy. However, physicians are hoping for the first results by doing without hydrocyanic acid. Hydrocyanic acid is presumably associated with the onset of Leber’s optic atrophy; However, this treatment method does not guarantee success and ideally only supports a positive development of the disease.

Hydrocyanic acid is found, for example, in alcohol, tobacco, nuts and cabbage. Since 2015, the pharmaceutical trade has also been selling the first drug with the active ingredient idebenone. Researchers originally developed this drug to treat cognitive impairments such as those associated with Alzheimer’s dementia .

Outlook & Forecast

The prognosis of the disease is unfavorable. Leber’s optic atrophy is a genetic disease. Since researchers and scientists are not allowed to change the genetics of humans for legal reasons, only symptomatic treatment measures can be taken. These are very difficult with this health disorder. Since the disease leads to a weakening of vision, the burden on those affected is very high in everyday life. There are impairments, an increased risk of accidents and an increased risk of secondary diseases. Psychological disorders are often documented in the further course. These must be taken into account in the overall prognosis.

At an advanced stage, the eyesight is so impaired that it is no longer possible to carry out daily chores without the help of other people. In addition, facial defects occur, which lead to a further deterioration in the quality of life. An optical flaw is perceived, which can also become an emotional burden for the person concerned. The zest for life and participation in social and societal life often decreases.

If the course of the disease is very unfavorable, both eyes become blind. In order to improve their own health, the person concerned should pay sufficient attention to emotional well-being. Although no healing will take place, the disorder should be learned to deal with.

prevention

Prevention of Leber’s optic atrophy is not possible because it is a hereditary disease. External influences only play a minor role, if at all. The above measures, such as avoiding food and beverages containing hydrocyanic acid, can possibly delay an outbreak or promote a milder course at an early stage.

aftercare

There are usually few follow-up measures available to those affected with this disease, as it cannot be completely cured. If the affected person has gone completely blind, follow-up care can no longer be provided, since this is usually not necessary. The disease itself, in some cases, can be treated with medication.

The person concerned must ensure regular use and the correct dosage in order to alleviate the discomfort in the eyes. Likewise, a healthy lifestyle with a healthy diet can have a very positive effect on the further course of the disease and slow down the progression of the disease. Above all, the patient should avoid tobacco and alcohol.

Since the disease often occurs together with dementia, many of those affected also depend on the help and support of their own families in their everyday lives. Loving and intensive conversations also have a positive effect on the further course of the disease and can also prevent depression or mental upsets. In most cases, the disease does not reduce the life expectancy of the person affected.

You can do that yourself

Patients with Leber’s optic atrophy experience increasing limitations in their vision and thus their quality of life as a result of the disease. Since the disease initially affects the perception of colors negatively, this is an important symptom for early detection and those affected contact an ophthalmologist immediately . Patients take the medicines prescribed by the doctor according to the instructions and consult a doctor immediately in the event of side effects.

As the disease usually progresses, patients come to terms with the increasing impairment of their visual function. Blurred vision can only be compensated to a certain extent with visual aids such as glasses . So it is most important that those affected accept the disease and try to achieve a comparatively high quality of life. For example, it is helpful to seek contact with other visually impaired people in order to find social support.

Medical experience so far indicates that hydrocyanic acid has a negative impact on the onset and progression of the disease. Therefore, patients strictly refrain from consuming alcohol or tobacco. In some cases, the disease ultimately leads to blindness, so patients adapt their living space to the changed circumstances and learn to orientate themselves with a cane.