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Primary open-angle glaucoma

Glaucoma is one of the principal causes of blindness in the developed countries. Its frequency increases with age although it can appear at any moment, even at birth (congenital glaucoma).

Glaucoma is one of a group of ocular illnesses traditionally characterized by high inner eye pressure (also called intraocular pressure or IOP). However, glaucoma is more precisely defined as an optic neuropathy than as a high pressure illness. Therefore, it comprises a group of illnesses that have progressive optic nerve damage in common and can be provoked by multiple risk factors.

Of all the risk factors that intervene in the development of glaucoma, the main factor is the increase of intraocular pressure. IOP is the result of the balance between the production and elimination of the fluid called aqueous humor that fills the anterior chamber of the eye. The increase in intraocular pressure together with many other risk factors such as severe myopia (shortsightness), race (Afro-American, black) and family history can cause glaucoma.

There are different types of glaucoma, generally classified by the anterior chamber and the underlying etiology:

  • Primary open-angle glaucoma is an optic neuropathy in which the progressive loss of peripheral field of vision is followed by a loss in the central field of vision in a characteristic pattern. This is why, generally, there may not be a high IOP.
  • Closed-angle glaucoma is characterized by the narrowing or closure of the angle of the anterior chamber of the eye.

 

The angle of the normal anterior chamber drains the aqueous humor (fluid that fills the ocular globe). When this drainage path narrows or is closed, an increase in intraocular pressure and optic damage happens. This event happens in eyes that have a certain anatomical predisposition. It is normally a painful red eye and should be treated urgently to prevent the permanent and rapid development into blindness.

Symptoms

In patients with glaucoma, the optic nerve suffers a progressive loss of its nerve fibers causing a reduction in the range of the field of vision which, in the more advanced phases, can lead to blindness.

In the greater number of cases, glaucoma is an asymptomatic illness and is only perceived by the patient when the damage to the optic nerve is already in the advanced stages. This lack of symptoms means that a high number of patients with glaucoma are undiagnosed, even in developed countries with access to good health care.

Prevention

All persons over the age of 40 are recommended to visit an ophthalmologist at least once a year to monitor intraocular pressure and to have a detailed examination of the optic nerve. Vision loss (alteration in the visual field) cannot be recovered, making the early diagnosis very important. Once diagnosed and treated, the main objective is to conserve what vision remains.

It is also important to add the medicinal treatment to the daily routine as soon as possible. The primary care doctor and the distinct specialists should be informed that the patient has glaucoma and of all medicines currently being taken so that the prescribed treatment do not interfere with the glaucoma treatment.

The patient should not hesitate to as the ophthalmologist how to apply the drops so that the medication is more effective. To make daily life more comfortable, it is important to adapt to the necessities of the patient, implicating the family in the treatment.

Gene or region studied

  • CDKN2B-AS1
  • 1q24.1
  • LOXL1
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