28 diseases - Exfoliative glaucoma

DNA test for genetic predisposition to exfoliative glaucoma

Exfoliative glaucoma — is eye disease with a complex clinical picture and well-defined territoriality of extension. Disease progression leads to visual deterioration, and to complete loose of it.

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Exfoliative glaucoma

The problem of exfoliative glaucoma is especially relevant for Scandinavian countries. For example, in Finland, about 9% of people over the age of 65 suffer from this disease, and for the age group from 65 to 70 years, this index reaches 22%. In other world countries, morbidity rate is significantly lower: in many territories, exfoliative glaucoma is considered as a very rare disease. There is a characteristic change in the prevalence of disease depending on geographical latitude: at the equator morbidity is close to zero, but closer to the poles, index becomes higher.

A distinctive feature of exfoliative glaucoma is difficulty of its treatment: in most cases, the prognosis of the disease does not depend (or weakly depends ) on the level of intraocular tension, therefore classical medical therapy aimed at its reduction in many cases does not bring such positive results as in open-angle glaucoma.

Exfoliative glaucoma: causes and risk factors
The disease is a consequence of an exfoliative syndrome— a pathological condition with an unidentified cause and a complex mechanism of development. The exfoliative syndrome is manifested by the deposition of a flaky protein substance in tissues, it is found not only in eyes structures, but also in small vessels and other tissues of the body. In most cases, this condition does not anyhow affect the work of heart, lungs, blood vessels, nervous, digestive and excretory systems.The only clinical sign of exfoliative syndrome can be eye damage with formation of glaucoma of a special type.
Despite of numerous researches, it is still not clear what external and internal factors lead to exfoliative syndrome. It also remains unclear why in some cases syndrome does not show itself at all, but in others it leads to the development of glaucoma. Nevertheless, it is established that the disease most often develops in elderly people living in the Scandinavian region and having bright eyes.The risk of disease increases significantly if there is a family anamnesis that confirms this anomaly in the relatives of the first line - parents, children, brothers or sisters.
Genetic factor in the development of exfoliative glaucoma

Importance of genetic predisposition in the development of disease was investigated in Iceland and Sweden, where the problem of exfoliative glaucoma is especially acute. It turned out that 99% of patients who suffer from this disease have two mutations of gene lysyl ocedase-like LOXL1, located in the 15th chromosome. It's worth to note, that similar changes in the genotype in patients with a classical open-angle form of glaucoma were not found.

Gene LOXL1 encodes one of the phases of metabolism of elastin, which is a part of structure of many tissues of human body. It is assumed that the mechanism of the development of this disease is associated with the anomaly of elastin, which during the metabolism does not split into small molecules, but falls out in the form of flakes and forms clusters. Confirmation of this assumption is the results of histochemical analysis of exfoliative sediment, where alpha-alastin, tropoelastin and a number of other protein molecules of a similar structure (fibrillin, vitronectin, etc.) are found.

Genetic research in case of the exfoliative syndrome is quite accurate, because, unlike most other hereditary diseases, it is based on the identification of a narrow range of gene mutations.

Mechanism of disease development

The main sign of glaucoma is increased ophthalmotonous pressure associated with a violation of drainage of waqueous humour filling the anterior and posterior chambers of the eye. Waqueous humour is produced by the ciliary body under the sclera. Dacryops is removed from the eye cells into the venous pathway, but before that, waqueous humour passes through the trabecular network located in the corner of the anterior chamber of the eye, and only then through the circular sinus is discharged into a shallow vein. With exfoliative glaucoma, ophthalmotonous pressure increases due to the accumulation of specific protein flakes between the trabeculae: the fluid flow becomes more problematic, the intraocular pressure increases.

Inadequate therapeutic effect of classical drugs which reduce ocular tension, is probably associated with three factors.

First, exfoliative material in large quantities is deposited on the lens, that disrupts the vision function itself.

Secondly, these deposits affect the iris: it becomes rigid, which causes the pupil to sluggishly adjust to changing lighting.

Thirdly, exfoliative sediments "clog" the small vessels of the eye: there is appear difficulty in blood flow and the nutrition of the eye tissues, especially the fibers of optic nerve, worsens.

All these cause progressive vision deterioration, and wherein dynamics of disease depends little on the level of ocular tension and quality of its therapeutic correction.

Exfoliative glaucoma: symptoms and outcome

Exfoliative glaucoma initially manifests itself in the same way as the classical open-angle form of disease:

  1. 1misting of vision;
  2. 2some areas of field of vision "fall out";
  3. 3

    pain in the eye, a feeling of heaviness, fullness may appear;

  1. 4tear shedding;
  2. 5eyes quickly become tired;
  3. 6the patient complains of flashing "dots" before eyes.

Not infrequent, the disease starts with one eye, but within 5 years, almost in half of patients formed bilateral defeat. Exfoliative glaucoma is often accompanied by cataract (gray star), which aggravate visual impairment.

In the case of an unfavorable course of disease, atrophic processes in the important structures of the eye, which leads to complete blindness, develops in patient.


For diagnosis maybe used the following methods:

  1. 1

    it gives an opportunity to see characteristic flaky deposits near the edge of the pupil and on the surface of capsule of the lens.

  2. 2

    it allows to determine increased intraocular pressure

  1. 3

    is designed for detection of typical narrowing of the visual fields for glaucoma.

  2. 4

    is performed to examine the angle of the anterior chamber of the eye.

  3. 5

    optical coherence tomography:
    is used for examination of the fundus for the purpose of identification of atrophic processes.

In case of absence of necessary equipment for tomography, the doctor conducts classical ophthalmoscopy.

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There is no single classification of exfoliative glaucoma, but many specialists adhere the system of disease division by stages, reflecting the course of disease and the progression of the pathological process.

1 stage.

It is characterized by a slight atrophy of the iris and small clusters of exfoliative material along the edge of the pupil and on the capsule of the lens.

2 stage.

The deposits of flakes become more defined, atrophy increases, the iris becomes spotty due to redistribution of the pigment.

3 stage.

The deposits of exfoliative sediment are formed as a film, severe atrophy of the iris affects the pigment border.

Exfoliative glaucoma: treatment and prognosis

Treatment of this disease should be realized as early as possible, which is often complicated by late diagnosis. In some cases, an ophthalmologist may assess the clinical situation incorrectly and prescribe a traditional open-angle glaucoma treatment that can not stop the loss of vision in full measure.

The following methods are used in treatment of exfoliative glaucoma:

Medically induced antihypertensive therapy.

Glaucoma drops, reducing intraocular tension, in this case are not the basis of treatment, but are used for elimination of unpleasant symptoms (soreness, discomfort, etc.) and prevention of crises with a sudden rise in tension and severe clinical picture.

Laser therapy.

Laser trabeculoplasty, during which many fine perforations are burned in the trabecular network with the aid of a high-energy laser beam is used in the early stages of disease. The outflow of the aqueous humor is realized through the holes obtained in such a way.

Many specialists prefer another one method — laser trabeculotomy, which consists in dissection of the trabecular meshwork. With exfoliative glaucoma, this treatment usually shows the best results, and the duration of the effect is as longer, as earlier the operation was performed.

Drainage installation.

During the procedure, microtubules are installed in such a way as to connect the anterior chamber of the eye with a helmet channel for draining aqueous humor.

Trabecular aspiration:

it is a relatively new method of treatment. Exfoliative inclusions are cleaned out from the trabeculae and the anterior chamber angle by an aspiratе bougie. This method of treatment shows good effectiveness as a part of complex therapy.


improve conditions of neural transmission of signals, can inhibit dystrophic changes in the optic nerve and retina.

Blood flow improving drugs:

can be used as additional therapy.

Prevention of glaucoma

Due to insufficient information about the causes and mechanism of contraction of disease, specific prevention is not developed. In these conditions, the main task is the soonest identification of the type of glaucoma that has already arisen.

It should be remembered that an error in the diagnosis can lead to a long-term use of ineffective drug therapy, that is fraught with the progression of irreversible changes in eye structures. Diagnosis of exfoliative glaucoma at the first stage allows to start adequate (usually laser or surgical) treatment and keep your vision at a decent level.

Your future in your hands!

DNA test is a unique method for detecting a genetic predisposition to exfoliative glaucoma. The results will help the doctor to make an individual plan for preventive examination, and in case of suspicion, to determine shape of glaucoma and to start early treatment.

Do not wait for the disease — it is too dangerous for your eyes! Save your vision: take the DNA test on the genetic predisposition to exfoliative glaucoma!