28 diseases - Age-related macular degeneration

DNA test for genetic predisposition to age-related macular degeneration

Age-related macular degeneration (Age-related macular degeneration, senile macular degeneration, DMLA)— one of the most common retina diseases. Macular degeneration takes the sad first place in the list of causes of loss of vision in elderly people.

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Age-related macular degeneration

The incidence rate of macular degeneration increases progressively according to age: frequency of incidence rate in patients aged 55 years is no more than 2%, from 65 years - up to 10%, and for the elderly (over 75 years) this index reaches 30% and higher.

In the name of the disease, the word «age-related» indicates a clear link between pathology and senile changes in the organ of vision. However, as we can understand from statistics, not all elderly people suffer from macular degeneration. According to medical scientists, it's connected with influence of negative environmental factors and genetic predisposition.

Morphological basis of macular degeneration

The essence of macular degeneration is degenerative changes of retina, or to be more exactly, changes of its central part — the yellow spot. The retina is the most important periorbita. It contains many visual receptors which perceive optical radiation, convert it into nerve impulses and perform their primary processing.

The place with the largest accumulation of visual receptors on the retina is called the yellow spot. It was called so because of the yellow pigment and the corresponding color of the spot while examining the fundus.

Under definite conditions, with age in the zone of a yellow spot, the pigment cells are exposed degeneration (abnormal changes), which is accompanied by the formation of drusenia-compaction and mineralization areas which disturb visual function. Since locus of degeneration is located in the yellow spot, distress affects predominantly central vision.

Why does macular degeneration develop?

Macular degeneration - polyethological disease, it means, there is a number of factors of its appearing:


Inherited predisposition.

A white.

Blue eyes and fair skin.


Tobacco smoking.

Hyperinsolation (prolonged intensive sun exposure).


Excessive consumption of food with high glycemic index (determined by the table and is not directly related with sugar content of the product).


Genetic predisposition to age-related macular degeneration

Macular degeneration is a disease with a well-defined hereditary predisposition. According to statistics, the lifetime risk of developing a severe form of macular degeneration in patients whose relatives suffered from this disease reaches 50%, while the same index for the rest of people reaches only 12%.

English scientists in the sphere of geneticists have defined that macular degeneration is associated with mutations of the gene SERPING1 or C1-inh.

This structure is responsible for inhibiting of one of the enzymes, breaking protein. An exact scheme of SERPING1 mutation influence on the development of the disease has not been revealed yet, as well as the mechanism of formation of degenerative locus in the yellow spot has not been fully known. Genetic markers of macular degeneration are ARMS2 (G205T) and CFH (C1204T).

How is macular degeneration manifested?

It's often happen so, that patients with macular degeneration do not notice any visual impairment for a long time: it is either weakly expressed and impermanent, or it's compensated for by a sufficient visual function of the second healthy eye. In these cases, signs of macular degeneration can be detected on a preventive examination by an ophthalmologist.

The most frequent complaints of patients with macular degeneration:

  1. 1

    loss of vision, blurriness, especially when reading, writing, sewing and other activities related to the need to distinguish small things;

  2. 2

    whitish spots, fog in the center of the field of vision;

  3. 3

    need for more intensive light for reading;

  1. 4

    poor adaptation to changing lighting intensity;

  2. 5

    distortion of the image lines: the picture «swims» - is possible.

Classification of macular degeneration

There are two main forms of macular degeneration with significantly different prognosis: dry and wet.

Dry macular degeneration

is a common variant of this disease with mild course and mild or moderate symptoms: the patient may not notice deterioration of vision for a long time. 9 out of 10 patients with the diagnosis of age-related macular degeneration suffer precisely this form.

Wet macular degeneration (neovascular, exudative)

develops affected by a dry form and can be regarded as a progression of abnormal process. The risk of developing wet macular degeneration is especially high when detecting a large number of drusen while ophthalmoscopy.

Morphologically wet form of macular degeneration is presented by the growth of a new vascular bed in the area of the yellow spot, which disrupt the functioning of the visual receptors of central zone of retina. Newly formed vessels provoke swelling, congestion, hemorrhage, damage and scarring of the retina. Wet form of macular degeneration can lead to a severe decrease in central vision until its complete loss just in a few months.

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Macular degeneration diagnosis

Diagnosis of a disease is based on complaints, a special ophthalmological examination and additional methods of investigation. At the initial consultation, the doctor examines the fundus to identify characteristic drushes on the retina, granularity, areas of atrophy and other indirect signs of the degenerative process.

The main method of instrumental research is fluorescence angiography, which resides in examining the retinal vasculature after dye injection. Angiography makes it possible to clarify the type of disorder, to reveal the degree of severity of the pathological process and to conduct differential diagnostics.

Also there is a fairly informative method for self-diagnosis - the Amsler grid, which is itself a square with a side of 40 cm, delineated into many small squares. Patients with dry form of macular degeneration and persons with a genetic predisposition to the disease are strongly recommended by doctors to do regular testing.

For this, the Amsler grid is to be examined alternately first by one, then by another eye from a distance of 40-50 cm. Any degenerative changes in the yellow spot are indicated by any distortion of the lines, the loss of the image portion, the appearance of a dark spot or blurriness. If any of these symptoms occur, consult a specialist immediately. Amsler's grid can be obtained from an ophthalmologist or printed yourself.

Important! Self-testing by means of amsler's grid does not replace a full-scale ophthalmological examination, but it is only an additional method of monitoring the state of retina.

Treatment of macular degeneration

Not so long ago, ophthalmologists were unable to slow the progression of disease. However, the situation has changed: modern medical technologies and new pharmaceuticals can significantly affect the pathological process.
The main thing is to start preventive measures in time.


Clinical research studies show that the complex of minerals and antioxidants (vitamins C and E, zinc, copper, beta-carotene in certain proportions) reliably reduce the intensity of progression of the degenerative process in the retina yellow spot and in many cases make it possible to maintain the quality of vision at a decent level.


Taking Ranibizumab as the most effective of the drug treatment methods. The drug prevents formation of new vessels that disrupt the function of visual receptors in the area of retina yellow spot, therefore it is used to treat wet form of macular degeneration. Ranibizumab is used for course treatment: the average course is 2 years, the number of injections for the entire course is from 6 to 24. Treatment requires individual selection of therapy regimen and careful detection of indications and contraindications. Throughout all the course of treatment, the patient is observed in an ophthalmologist who monitors changes in the fundus and corrects the therapy regimen.


While the treatment of wet macular degeneration, photodynamic therapy is also used, it's aimed at destroying neovascular formations, a pathological net of new vessels. Before the procedure, the patient is given an intravenous injection of Vizudine, a synthetic photosensitizer. The peculiarity of the drug is such that its active substance accumulates exclusively in newly formed vessels and when targeted laser irradiation clogs their lumen. Irradiation is carried out under computer control through the fiber-optic system, which ensures a high selectivity of the destructive effect: only pathological vessels damaged by the photodynamic method fall off. As a result of this treatment of macular degeneration, retinal edema is eliminated, hemorrhages dissolve, central vision is restored or improved.


Laser and photodynamic therapy does not always show good efficiency, but in most cases, such treatment can significantly improve the clinical situation. It should be remembered about a fairly high frequency of relapses: very often in 1.5-2 years, a new vasculature develops and disrupts the function of the visual receptors of the yellow spot, therefore it is important to continue monitoring the specialist and carry out maintenance therapy.


To improve the quality of life of patients with macular degeneration it's worth to use special means to increase the image. Strong reading glasses, pocket magnifier, electronic hand-held video-magnifier, video systems for increasing the image are selected individually in accordance with needs of patient and allow you to live active life.


The basic preventive measures of age-related macular degeneration are:

a healthy lifestyle with a rejection of bad habits;

normal body weight;


protective sunglasses usage and limited insolation;

regular ophthalmologist consultings with aim to identify early signs of the disease.

Unfortunately, it is not in our power to influence such a significant risk factor as hereditary predisposition. However, modern science allows us to determine the degree of risk of developing the disease, taking into account the genetic characteristics of a particular patient.

Your future in your hands!

DNA test is a unique opportunity to obtain information about the genetic predisposition to age-related macular degeneration. Basing on DNA test results, the attending physician will make up for you an individual plan of observation, diagnosis, self-testing and will help to adjust your lifestyle for the maximum possible elimination of all risk factors.

Keep your vision clear: start preventive measures for age-relates macular degeneration as soon as possible!