Congenital amaurosis of Leber: causes, symptoms and features of treatment

Diseases of the visual apparatus always deliver a lot of inconveniences and problems to patients. Eyes - this is the main sense organ. With its help, a person can see the world around him and fully navigate in space. The most terrible pathology is the loss of central vision. In medical practice, it occurs under the name Leber amavroz. Treatment, symptoms, causes of illness are just some of the issues discussed in today's article.

Description of the disease and its variants

Amavroz is a pathology of the eye apparatus, in which partial or total blindness is observed. This condition is not associated with direct damage to the organs of vision. It has a functional character. A disease caused by a violation of the nerves of the visual apparatus. This is just the case when during an ophthalmological examination the doctor does not see any significant deviations. Thus the patient complains of persistent deterioration of vision.

Amavroz can be of two types: transitional (transitional) and congenital. The first case is characterized by a temporary loss of vision. The development of the disease, as a rule, is due to ischemia in the carotid artery basin. With the help of drug therapy or self-vision is soon restored. If the symptoms of ischemia progress against the background of transient blindness, surgical intervention is performed. This kind of operation often helps to prevent a stroke in the patient.

Congenital amaurosis Leber is of special interest for doctors and scientists. Therefore, it is advisable to consider this pathology separately.

Features of Leber's congenital amaurosis

Hereditary form of the disease doctors associated with genetic disorders of the products of rhodopsin. It is he who is responsible for transmitting information on the nervous beams to the brain regions. If rhodopsin is sufficient, the retina successfully transforms light into impulses, from which later visual images are formed. According to the latest research on this issue, in addition to rhodopsin, the pathological process also extends to other areas - rods and cones.

For the first time the congenital amaurosis of Leber was mentioned in 1867. The scientist, whose name was later called the disease, determined its main manifestations. This is primarily blindness, nystagmus and the appearance of pigmentation spots on the fundus. Pathology is rare (3 cases for every 100 thousand people). It equally affects both men and women.

Main reasons

Why is Leber's congenital amaurosis? The causes of the development of the disease are still unknown. Many doctors talk about its connection with the lack of a clear specificity of the pigment epithelium (rhodopsin) elements with photoreceptors. This is due to the anomalies of the gene material. Pathology has an autosomal recessive mode of transmission. It should be feared only if both parents have a mutating gene in their DNA.

This is the RPE-65 gene on the first chromosome. To date, scientists know about 80 varieties of its mutations, which provoke a number of forms of retinal abiotrophy. The protein encoded by this gene is responsible for the metabolism of retinol in the pigment epithelium. If there is a genetic defect, the described process fails. As a result, the synthesis of rhodopsin ceases, which entails the appearance of symptoms characteristic of the disease.

Clinical picture

Hereditary amaurosis of Leber is revealed already in early childhood. Children with this diagnosis usually lack visual reflexes. They are clumsy and occasionally hurt themselves. It is worth noting that blindness is not absolute at birth. During the life of the child, it progresses, and closer to pubertal age leads to a complete loss of vision. However, there are exceptions.

Leber's congenital amaurosis is characterized by the following symptoms:

1. Involuntary eye movements.
2. Pupils react poorly to light.
3. It is difficult for a child to focus his or her eyes on a single object. He practically does not distinguish nearby objects.
4. The look constantly wanders.
5. Pathology is often accompanied by keratoconus. This is a defect in which the cornea changes its habitual configuration. It becomes cone-shaped.

Leber's amaurosis in most cases is of a systemic nature and is associated with other disorders. These children have a mental retardation. They usually have a bad or no hearing. The disease is supplemented by other pathologies of the internal organs.

Methods of diagnosis

Because of the large number of manifestations of the disease on the part of various systems, it is sometimes difficult to suspect a congenital amaurosis of Leber. The reasons, symptoms of this pathology to the majority of parents and at all are not familiar. Therefore, they do not immediately seek help from a doctor.

The oculist is engaged in diagnostics. Sometimes the help of outside experts is required: a neurologist, an angiologist, etc. A patient's examination begins with a study of his anamnesis. Thus the doctor in the course of survey can ask clarifying questions. For example, when the first symptoms of the disease appeared, were the cases of amaurosis found in other members of the family.

On a mandatory basis, in a small patient, a specialist examines the fundus, checks vision, the quality of the visual reflex. If necessary, it is sent to the MRI, and also appoint an additional consultation with a geneticist.

Features of therapy

Amaurosis Lebera can not be cured. Appropriate, according to some ophthalmologists, is considered the appointment of maintenance therapy. This course includes the use of vitamin complexes, intraocular injections and vasodilating drugs.

Usually, such a patient, provided that a sufficient level of vision is maintained, the doctor prescribes glasses. However, even with their help, it is very difficult to discern the facial expressions of others. The child must be registered with a neurologist.

Parents, in turn, should specify the distance at which the baby is able to distinguish the facial expressions of the surrounding people. For the correct formation of the central nervous system, it is better for them to be within the specified distance frames. This approach will allow the child to recognize the person, copy facial expressions and contact the nearest relatives.

Forecast for patients

To date, doctors can not offer a purposeful and effective way to combat amaurosis. However, throughout the world, scientists continue to conduct clinical research and seek a universal medicine. Some of them show good results. For example, with the introduction of the RPE65 gene into the retina, a significant improvement in vision is observed in patients.

As for the prognosis of pathology, it is in most cases unfavorable. Approximately 95% of patients have a complete loss of vision by the age of 10 years.