Pigment abiotrophy. Treatment of taperetinal abiotrophy of the retina with restoration of vision. Symptoms of retinal pigmentary degeneration - types of retinal abiotrophy

Date: 03/25/2016

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Abiotrophy of the retina is a degeneration of a pigmentary nature, which is inherited and is a dystrophic disease that affects the internal membrane structures of the organ of vision. In this case, the main damage occurs to the rods located in the retina. Abiotrophy is very rare. This disease ends in complete blindness of the patient, that is, the person becomes visually impaired. This disease was first described in 1857 under the name “retinitis pigmentosa.” Subsequently, its hereditary nature was revealed - damage to the genes responsible for supplying the eye with blood and nutrients.

Causes of retinal disease

There are two types of light-sensitive structures on the retina of the eye - rods and cones, which are so called because of their appearance. The first type of light wave receptors is located throughout the retina, but there are more rods in the peripheral zones of the eye, and towards the center their number decreases. The purpose of these components is to provide black-and-white peripheral vision in relatively low light.

Cones are located in the central regions of the retina and their job is to provide high-contrast color vision. If some gene structures that are responsible for the normal functioning and supply of blood and nutrients to the retina of the eye are damaged, then the destruction of its outer layers begins, where these rods and cones are located. The destruction of the membranes begins from the periphery and goes to the center of the eye over decades.

Usually the lesion affects both eyes at once, and the first symptoms of the disease can be detected already in childhood. Such patients lose the ability to see normally by the age of 21. During the development of the disease, there may be different options, for example, one eye or one segmental zone of the retina is affected.

If the disease appears in adulthood, the person may develop glaucoma, clouding of the lens, swelling of the central part of the retina, or cataracts.

Under certain conditions, affected cells can degenerate into a tumor, which is malignant. This tumor is called retinal melanoma. The tumor grows rapidly, which may lead to the need for urgent surgery, otherwise the person risks losing his eye. Previously, surgery for retinal melanoma was the only treatment option. Therefore, most often the person was left without an eye: it was completely removed in order to prevent the tumor from spreading to the other eye. At the present stage of medical development, the spread of such a tumor is combated by radiosurgical methods (irradiation with radioactive cobalt and other elements), which allows the patient to preserve the organs of vision. But with such methods of eliminating melanoma, special care must be taken so as not to damage healthy cells and tissues in the retina. Therefore, timely diagnosis is of particular importance. In the first stages, it is easier to get rid of this disease than in an advanced state of the disease.

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Symptoms of retinal pigmentary degeneration

This disease is characterized by the following main symptoms:

1. Development of hemeralopia in humans - “night blindness”. This phenomenon develops due to damage to the rods on the retina. At the same time, patients in low light lose orientation and cannot move normally in the evening and at night. A person may have such a symptom long before the main signs of abiotrophy appear.
2. The patient's peripheral vision quickly begins to deteriorate due to progressive damage to the rods in the direction from the outer zones of the retina to its center. In this case, the decrease in the zone of peripheral vision occurs gradually, but then it can reach its complete disappearance. Then the so-called tunnel (tubular) vision appears, when in the center of the patient’s retina there remains a small zone through which he sees.
3. At the late stage of development of abiotrophy, the acuity of black-and-white and color vision sharply decreases. This occurs due to damage to the cones in the central parts of the retina. With further progression of the disease, the person becomes blind.
4. During the course of the disease, the patient's eyes become tired very quickly.
5. At some moments, light exposure occurs on different parts of the eye, which prevents a person from seeing normally.

Most of the above symptoms of the disease appear fully after the patient reaches 20-30 years of age. Therefore, at the first signs of illness, the patient must be taken to a medical institution of the appropriate profile.

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Basic method for diagnosing eye disease

Diagnosing the disease in childhood and in the early stages of its development is somewhat difficult. In children, determination of the presence of abiotrophy is possible only from the age of six and above. During this period, the disease manifests itself in the form of “night blindness,” which prevents the child from correctly orienting himself at dusk or at darker times of the day, when in a dark room.

During the examination of the patient, doctors check the patient's peripheral vision and visual acuity. At the same time, the fundus of the patient’s eye is carefully examined, where at different stages of the disease characteristic changes in the retina clearly appear. The most common change during this period is the bone bodies, which are zones of dystrophic damage and destruction of light-sensitive structures (rods and cones). In this case, in the fundus of the eye, a narrowing of the arteries supplying blood to the retina and a change in the color of the optic nerve disc (it usually turns pale) are clearly visible.

To make an accurate diagnosis, doctors conduct an electrophysiological examination, which provides objective data on the functioning of the patient’s retina. Then the patient's ability to navigate in a dark room is checked. If there is a suspicion that a person may be developing abiotrophy or a diagnosis is made, doctors begin to check the patient’s relatives to identify the hereditary nature of the disease. After collecting all the data, a treatment process is prescribed, the duration of which depends on the severity of the lesion and the age of the patient.

Retinal pigmentary abiotrophy is a severe hereditary eye disease. The pathology is characterized by degeneration and destruction of the receptors responsible for the perception of light. Another name for the disease is retinitis pigmentosa. This is one of the most dangerous ophthalmological diseases. Today, medicine does not have sufficiently effective methods for treating this pathology. The disease progresses and leads to blindness. Can vision loss be avoided? We will consider this issue further.

Causes

The cause of retinal pigment abiotrophy is genetic disorders. The disease is transmitted in several ways:

• autosomal dominant;
• autosomal recessive;
• X-linked recessive.

This means that the pathology can be inherited in the following ways:

• from one or two sick parents;
• the disease may appear in the second or third generation;
• The disease can occur in men who are related by blood to each other.

It is observed in representatives of both sexes. However, this disease affects men much more often than women. This is due to the fact that the pathology is often inherited in an X-linked recessive manner.

The direct cause of retinal pigment abiotrophy is disturbances in the genes responsible for the nutrition and blood supply of photoreceptors. As a result, these eye structures undergo degenerative changes.

Pathogenesis

The retina of the eye contains special neurons that are sensitive to light. They are called photoreceptors. There are 2 types of such structures:

1. Cones. These receptors are essential for daytime vision as they are only sensitive to exposure to direct light. They are responsible for visual acuity in good lighting conditions. Damage to these structures leads to blindness even during the daytime.
2. Sticks. We need these photoreceptors in order to see and distinguish objects in low light conditions (for example, in the evening and at night). They are more sensitive to light than cones. Damage to the rods leads to deterioration of twilight vision.

With retinal pigmentary abiotrophy, dystrophic changes first occur in the rods. They start from the periphery and then reach the center of the eye. In later stages of the disease, the cones are affected. First, a person’s night vision deteriorates, and subsequently the patient begins to have difficulty distinguishing objects even during the day. The disease leads to complete blindness.

International Classification of Diseases

According to ICD-10, retinal pigment abiotrophy belongs to a group of diseases grouped under the code H35 (Other retinal diseases). The full pathology code is H35.5. This group includes all hereditary retinal dystrophies, in particular retinitis pigmentosa.

Symptoms

The first sign of the disease is blurred vision in low light. It becomes difficult for a person to distinguish objects in the evening. This is an early symptom of pathology that can occur long before obvious signs of vision loss.

Very often, patients associate this manifestation with “night blindness” (vitaminosis A). However, in this case, this is a consequence of damage to the retinal rods. The patient experiences severe eye fatigue, headaches, and a sensation of flashes of light before the eyes.

Then the patient's lateral vision deteriorates. This is due to the fact that damage to the rods begins from the periphery. A person sees the world around him as if through a pipe. The more rods undergo pathological changes, the more the field of vision narrows. At the same time, the patient’s perception of colors deteriorates.

This stage of pathology can last for decades. At first, the patient's peripheral vision decreases slightly. But as the disease progresses, a person can perceive objects only in a small area in the center of the eye.

At a later stage of the disease, damage to the cones begins. Daytime vision also deteriorates sharply. Gradually the person becomes completely blind.

Pigmentary abiotrophy of the retina of both eyes is often observed. In this case, the first signs of the disease are observed in childhood, and by the age of 20 the patient may lose vision. If a person only has one eye or part of the retina affected, the disease develops more slowly.

Complications

This pathology steadily progresses and leads to complete loss of vision. Blindness is the most dangerous consequence of this pathology.

If the first signs of the disease appear in adulthood, then retinitis pigmentosa can provoke glaucoma and cataracts. In addition, the pathology is often complicated by macular degeneration of the retina. This is a disease accompanied by atrophy of the macula of the eyes.

Pathology can lead to a malignant tumor (melanoma) of the retina. This complication occurs in rare cases, but it is very dangerous. Melanoma requires surgery to remove the eye.

Forms of the disease

The progression of the pathology largely depends on the type of inheritance of the disease. Ophthalmologists distinguish the following forms of retinal pigment abiotrophy:

1. Autosomal dominant. This pathology is characterized by slow progression. However, the disease can be complicated by cataracts.
2. Early autosomal recessive. The first signs of the disease appear in childhood. The pathology progresses rapidly, the patient rapidly loses vision.
3. Late autosomal recessive. The initial symptoms of the pathology appear at the age of about 30 years. The disease causes severe vision loss but progresses slowly.
4. Linked to the X chromosome. This form of pathology is the most severe. Vision loss develops very quickly.

Diagnostics

Retinitis pigmentosa is treated by an ophthalmologist. The patient is prescribed the following examinations:

1. Dark adaptation test. Using a special device, the sensitivity of the eye to bright and dim light is recorded.
2. Measurement of visual fields. Using the Goldmann perimeter, the boundaries of lateral vision are determined.
3. Fundus examination. With pathology, specific deposits, changes in the optic nerve head, and vasoconstriction are noticeable on the retina.
4. Contrast sensitivity test. The patient is shown cards with letters or numbers of different colors on a black background. With retinitis pigmentosa, the patient usually has difficulty distinguishing blue shades.
5. Electroretinography. Using a special device, the functional state of the retina is studied when exposed to light.

Genetic analysis helps to establish the ethology of the disease. However, such a test is not carried out in all laboratories. This is a complex and extensive study. After all, many genes are responsible for the nutrition and blood supply of the retina. Identifying mutations in each of them is a rather labor-intensive task.

Conservative treatment

There are no effective methods for treating retinal pigmentary abiotrophy. It is impossible to stop the process of destruction of photoreceptors. Modern ophthalmology can only slow down the development of the disease.

The patient is prescribed medications with retinol (vitamin A). This helps to somewhat slow down the process of deterioration of twilight vision.

Conservative treatment of retinal pigment abiotrophy also includes the use of biogenic stimulants to improve blood supply to the eye tissue. These are drops "Taufon", "Retinalamin" and a drug for injection into the eye area "Mildronat".

Strengthening the sclera with biomaterial

Currently, Russian scientists have developed the Alloplant biomaterial. In case of pigmentary abiotrophy of the retina, it is used to restore normal blood supply to the eye tissues. This is biological tissue that is injected into the eye. As a result, the sclera is strengthened and nutrition of the photoreceptors is improved. The material takes root well and helps to significantly slow down the development of the disease.

Treatment abroad

Patients often ask questions about the treatment of retinitis pigmentosa in Germany. This is one of the countries that uses the latest methods of treating this disease. At the initial stage, detailed gene diagnostics are carried out in German clinics. It is necessary to identify the type of mutation in each gene. Electroretinography is then used to determine the degree of damage to the rods and cones.

Depending on the diagnostic results, treatment is prescribed. If the disease is not associated with a mutation of the ABCA4 gene, then patients are prescribed high doses of vitamin A. Drug therapy is supplemented with sessions in a pressure chamber filled with oxygen.

Innovative methods for the treatment of retinal pigmentary abiotrophy are used. If the patient's eye damage reaches the stage of vision loss, then an artificial retina transplant surgery is performed. This graft is a prosthesis penetrated with many electrodes. They mimic the photoreceptors of the eye. The electrodes send impulses to the brain through the optic nerve.

Of course, such a prosthesis cannot completely replace a real retina. After all, it contains only thousands of electrodes, while the human eye is equipped with millions of photoreceptors. However, after implantation, a person can distinguish the outlines of objects, as well as bright white and dark tones.

Gene therapy is being carried out using retinal stem cells. This treatment method is still experimental. Scientists suggest that such therapy promotes the regeneration of photoreceptors. However, before treatment, it is necessary to conduct a thorough examination of the patient and do a trial implantation, since stem cells are not indicated for all patients.

Forecast

The prognosis of the disease is unfavorable. It is impossible to stop pathological changes in the retina. Modern ophthalmology can only slow down the process of vision loss.

As already mentioned, the rate of development of the disease may depend on various reasons. Retinitis pigmentosa, transmitted via the X chromosome, progresses rapidly, as does the early autosomal recessive form. If the patient has damage to only one eye or part of the retina, then the pathological process develops slowly.

Prevention

To date, no methods have been developed to prevent retinitis pigmentosa. This pathology is hereditary, and modern medicine cannot affect gene disorders. Therefore, it is important to identify the first signs of pathology in time.

If the patient’s twilight vision has worsened, then this symptom should not be attributed to vitamin deficiency. This may be a sign of a more dangerous disease. If your vision deteriorates, you should immediately contact an ophthalmologist. This will help slow down the development of retinitis pigmentosa.

Retinal abiotrophy is a degeneration that is pigmented in nature. It can be a real illness and be inherited. The main damage will occur to the rods, which are located in the retina.

Retinal abiotrophy is a disease that is inherited

The disease is quite rare, but if it occurs, then blindness can also occur. It was first discovered in 1857. After studying it, it became clear that it could be caused by damage to the genes that will be responsible for supplying blood to your eye.

Reasons for development

There are two types of light-sensitive structures found on the retina. These include rods and cones, which have this name because of their appearance. In most cases, the lesion can affect both eyes at once. Most patients may lose their vision by age 21. Sometimes only one eye or a segmental area may also be affected.

Eye test for abiotrophy

If this disease begins to manifest itself in adulthood, then glaucoma or glaucoma may develop. If retinal pigmentary degeneration occurs, then a malignant tumor may occur. The tumor will grow quickly and therefore surgery is necessary.

Modern medicine allows you to get rid of the problem in several stages. Many specialists fight the disease using radiosurgical methods. Abiotrophy of the retina, treatment with radio waves must be performed carefully so as not to damage the cells of the eye.

The main symptoms of pigmentary degeneration on the eye

Before treatment, it is necessary to perform modern diagnostics. If the disease is in its initial stage, then it is much easier to get rid of it.

Symptoms of pigmentary degeneration

If you experience retinal pigmentary abiotrophy, then remember that the disease will have characteristic signs:

1. Rapid development of hemeralopia. This symptom is also called “night blindness.” This phenomenon can occur due to damage to the rods, which are located on the retina. A similar symptom can also occur long before taperetinal abiotrophy of the retina appears.
2. The patient's peripheral vision may begin to deteriorate quickly. This usually occurs due to progressive damage to the eye rods.
3. At a later stage, a significant decrease in the acuity of black-and-white and color vision may occur. With significant progression of the disease, a person may simply go blind.
4. The eyes begin to get tired quickly.

Most of the symptoms that we have indicated can appear after 20-30 years. That is why if you notice the first signs, then prompt treatment should be performed.

Diagnostic technique

Diagnosis in the early stages can be quite difficult. The presence of abiotrophy can be determined only after 6 years. It is during this period that the symptom of “night blindness” may occur. During the examination, specialists will check your peripheral vision. Doctors will also check the fundus of the eye, since this is where changes in the retina will be noticeable. The bone bodies that affect the areas of dystrophic lesions will undergo the most changes.

In order for the diagnosis to be correct, it is also necessary to conduct an electrophysiological examination, which can provide completely objective data. The patient's ability to remain in complete darkness will then be checked. Only after collecting all the necessary data will a diagnosis be made.

Treatment

If you have retinal pigmentary degeneration, treatment will not be possible in this case. Today there is no method that would help get rid of this disease. Today, medicine can only slow down development through the use of special vitamins and medications.

In addition to tablets, drops can also be used, which include “” and other regulators that will have a peptide base. Today, to combat such diseases, physiotherapeutic methods can also be used, which can dramatically increase blood flow to the eyeball. If you want to carry out prevention at home, then you can also use. You can see these glasses in the photo below.

Sidorenko glasses for the prevention of abiotrophy at home

Medicine does not stand still and therefore there is no need to be upset. Doctors are constantly studying and applying new methods and therefore we hope that significant results will be seen in the near future. The methods that were used previously were considered bad, since they could only delay development for a certain time. Now, thanks to the use of modern methods, it is possible not only to stop the disease, but also to achieve a significant improvement in vision.

During the procedure, remember that such a process is considered quite lengthy and labor-intensive. The entire treatment process must be carried out only under the attention of specialists. Doctors must have significant experience in carrying out such treatment.

Hereditary dystrophic pathology, in which primary damage to the retinal rods occurs. It is quite rare. The first mentions of the symptoms of the disease appeared in medical literature in 1857. Manifestations of the disease were described by Donders under the name “retinitis pigmentosa.” Later it became known as “rod-cone dystrophy”, since this disease mainly affects.

It was subsequently found that in the later stages of the disease, damage to the cones also occurs. Ultimately, the decision was made to use the more appropriate term “retinal pigmentary abiotrophy.” It reflects the very essence of the disease in more detail.

The essence of retinal damage in pathology

The retina of the eye (retina, or light-sensitive membrane) consists of two types of receptors: rods and cones, which got their names because of their unusual shape. predominantly located in the central zone of the retina. They provide not only high visual acuity, but also color vision. Rods, on the contrary, are scattered over the entire surface of the retina. Still, there are more of them on the periphery of the retina than in its central zone. The main function of rods is to provide peripheral and twilight vision (visual acuity in low light conditions).

When certain genes that are responsible for the nutrition and functioning of the retina are damaged, its outer layer (the one on which the rods and cones are located) is gradually destroyed. Destruction of the retina begins at the periphery and gradually spreads to the central zone of the retina. This has been happening for several decades.

In most cases, both eyes are affected equally. The first symptoms of the disease can be detected already in childhood. Unfortunately, the disease progresses quite quickly and by the age of twenty the patient may completely lose his ability to work. But this is not the only flow option.

There are cases where only one eye or a separate sector of the retina is affected. Sometimes the pathological process begins at a later age. Patients suffering from retinal pigmentary abiotrophy are at increased risk of developing, early opacification or development.

Symptoms of retinal pigment abiotrophy

Retinal abiotrophy is manifested by the following symptoms:

• "Night blindness" or hemeralopia. It occurs due to damage to the retinal rods. Patients suffering from this disease have difficulty finding their way around at dusk or in low light conditions. The first manifestation of the disease is disorientation in the dark. It may appear several years before the first manifestations visible on the retina.
• Progressive change. Damage to the retinal rods occurs from the periphery to the center. Initially, the boundaries of peripheral vision will decrease insignificantly, and if the disease progresses, it may lead to a complete absence of peripheral vision. It is called tube or tunnel vision. This occurs when only a small island remains in the center of the retina, providing visual function.
• In the later stages of the disease, visual acuity and color perception decrease. This is due to the fact that at this stage of development of the pathological process, the cones in the central zone of the retina are affected. With the steady progression of the disease, complete loss of vision occurs.

Methods for diagnosing the disease

During the initial examination, visual acuity and peripheral vision are checked. The doctor will also carefully examine you. Depending on the severity of the pathological changes, it can reveal changes in the retina characteristic of this disease. These may be manifestations of retinal abiotrophy such as bone bodies (areas of dystrophic destruction of receptor cells), narrowing of the arterial vessels of the retina and significant blanching of the optic nerve head.

To clarify the diagnosis, additional electrophysiological studies are performed. With their help, you can most objectively assess the functionality of the retina. Special methods are used to test the patient’s ability to adapt to darkness and navigate in a dark room.

If there is a suspicion that there is retinal pigmentary abiotrophy or this diagnosis has already been established, then it is advisable to examine the patient’s direct relatives for the purpose of early diagnosis of the disease. This follows from the fact that retinal abiotrophy is a hereditarily determined disease.

Treatment of retinal pigment abiotrophy

Unfortunately, to date, no specific treatment for retinal pigmentary abiotrophy has been found. The progression of the disease can be stopped by taking vitamins and medications that improve blood supply and nutrition to the retina. A group of so-called “peptide bioregulators” is also used to treat the disease. They improve the nutrition and reparative capabilities of the retina.

The technical capabilities of modern medicine are steadily increasing. Currently, new reports are appearing on a number of completely new experimental directions in medicine. They are developing a method for treating retinal pigmentary abiotrophy using genetic engineering, which makes it possible to restore damaged genes. Attempts have been made to introduce special electronic implants into the organ of vision, which act similarly to the retina of the eye and allow completely blind people to more or less freely navigate in space and take care of themselves independently.

Moscow clinics

Below are the TOP 3 ophthalmological clinics in Moscow, where you can undergo diagnosis and treatment of retinal pigment abiotrophy.

Tapetoretinal retinal abiotrophy is a hereditary disease that is accompanied by retinal dystrophy. In this case, the rod photoreceptor apparatus is mainly affected. This pathology does not occur often.

Symptoms of the disease were described back in 1857 by Dr. Doners. He called this disease retinitis pigmentosa. Subsequently, the causes of this pathology were studied in more detail, and the name of the disease was transformed into primary taperetinal dystrophy. This disease is also called rod-cone dystrophy, since in the early stages of the pathology the rod apparatus is affected, and later damage to the cones also occurs. The essence of the disease is reflected in most detail by the term retinal pigment abiotrophy.

The photosensitive layer of the retina of the eye contains two types of photoreceptors: cones and rods. Photoreceptors received such names because of the peculiar shape of the cells. The central zone of the retina contains mainly cones, which are responsible for clear and color vision. Rods are mainly located in the peripheral areas of the retina, but a small number of these photoreceptors are also present in the central zone. Rods are responsible for peripheral vision and also help a person navigate in low light conditions.

As a result of mutation of a number of genes that ensure normal nutrition of the retina, as well as good functioning of this layer, gradual destruction of photoreceptors occurs. The pathological process begins in the peripheral areas, and then gradually moves to the center of the retina. The disease usually takes several decades to progress.

Usually, bilateral eye damage occurs, and symptoms of the disease become noticeable at an early age. By about the age of twenty, vision loss progresses, and patients are often unable to work. In some cases, not the entire surface of the retina is affected, but only a separate sector of it. Sometimes taperetinal abiotrophy of the retina manifests itself at a later age.

Patients with this pathology have a high risk of developing macular edema of the retina, the formation of glaucoma, and cataracts.

Symptoms

Symptoms of taperetinal retinal abiotrophy include:

• Hemeralopia, which is accompanied by decreased vision in conditions of insufficient visibility. Night blindness is associated with damage to the rod photoreceptor apparatus. Decreased orientation in the dark is one of the first signs of taperetinal abiotrophy. This symptom may appear much earlier than the first visible changes in the fundus.
• Progressive deterioration of peripheral vision is also associated with damage to the rod apparatus of the retina. The pathological process begins from the periphery and gradually spreads to the central areas. In this regard, at first the narrowing of the visual fields may not be noticeable, but later the disease can lead to a complete absence of peripheral vision. In this case we are talking about tubular (tunnel) vision. In this case, only central vision is preserved, and the patient cannot navigate in space.
• Deterioration of color vision and decreased visual acuity occurs in the later stages of taperetinal abiotrophy. This symptom is associated with the involvement of the cone apparatus of the central region in the pathological process. With further progression of the disease, complete blindness occurs.

Diagnostics

During an ophthalmological examination, the doctor checks peripheral vision, visual acuity, and examines the fundus. With ophthalmoscopy, it is quite often possible to identify characteristic changes in the retina, which include bone bodies (areas of degeneration of the photoreceptor layer), narrowed arteries, and blanching of the optic nerve head.

To clarify the diagnosis, an electrophysiological study can be performed to reliably assess the functional features of the retina. To assess dark adaptation and patient orientation in low light conditions, special techniques are used.

If tapetoretinal abiotrophy is suspected, the likelihood of a hereditary etiology of the disease is assessed. To do this, the patient’s closest relatives are examined in order to diagnose signs of pathology in them in a timely manner.

Treatment

No specific therapy for taperetinal abiotrophy has been developed to date. To stop the progression of dystrophy, you can use vitamin complexes that improve the nutrition of retinal cells. Peptide bioregulators are also prescribed that affect the blood supply to the eye. They are able to restore the functionality of the retina.

Due to the constant development of new treatment methods, data on experimental approaches periodically appear. To combat taperetinal abiotrophy, gene therapy can be used to restore damaged areas of genomic material, electronic implants that replace the retina and allow even blind people to navigate well in space.

Video from our specialist about the disease