The study of genes allows to identify the pathogenic in cases of familial glaucoma mutation.

-The IMO provides families with the disease genetic diagnosis

Barcelona, March of 2013– coinciding with the world Glaucoma week, being held until next Saturday, the IMO Foundation has launched a campaign of dissemination and prevention of disease. With the motto breaks the fence to the vision. fight against glaucoma ”, the campaign recommends, as a primary preventive measure, ocular reviews annual and biannual from 40 years in case of belonging to some of the groups at risk. Among them, people with ocular hypertension, with high myopia or other serious problems of vision, those of black or Asian race and, especially, the over 65s are and have a family history of glaucoma, given the important genetic component of the disease.

Therefore, the Ocular microsurgery Institute of Barcelona (IMO) performs genetic analysis in cases of glaucoma family to identify the molecular cause of the disease, the leading cause of irreversible blindness, and complement the clinical diagnosis. The knowledge of the molecular alteration allows you to offer genetic counseling to the family, identifying the pattern of inheritance of the disease and indicating the probability of transmitting it. Also, alerts members carriers who have not yet developed the disease, but that, most likely, can suffer it in the future. Genetic diagnosis also makes it possible to make an estimate of the prognosis of the disease (how will evolve), which has a direct impact on the expectations of the patient and, above all, in its treatment.

According to Dr. Esther Pomares, head of the Department of genetics of the IMO, the study of the genetic basis of the disease affects a greater and better knowledge of the disease, allows you to identify new genes responsible for glaucoma, as well as new non-associated, so far, the disease risk factors. in additionthe family genetic counseling allows early diagnosis of asymptomatic members and lay the groundwork for a future effective gene therapy ”.

in the laboratory of molecular biology in the Department of genetics of the IMO, is made the extraction of genomic DNA from a sample of blood from the patient and their family. Once purified DNA, a direct sequencing of the genes of interest (described as responsible for family glaucoma) is performed to identify the mutation or pathogenetic alteration. With this information, you can diagnose at an early stage to the familiar asymptomatic carriers and establish the pattern of transmission of the disease and its prognosis.

Genetic risk factors

Glaucoma is a disease with heterogeneous genetic bases, given that there are some cases of Mendelian Inheritance (direct transmission from generation to generation) and other sporadic, of complex inheritance, in which there is a percentage of affections in a family above the population average.

However, in these cases is not known yet specific genetic cause, but only genetic risk factors, so it is difficult to establish a clear relationship of cause and effect between the molecular basis and the development of the disease.

currently known polymorphisms (genetic risk alleles) in more than 25 genes associated with the disease, while described mutations in nearly a dozen genes of glaucoma with Mendelian Inheritance. Given the current diagnostic possibilities, the IMO is betting on study familial cases of Mendelian Inheritance, because, despite affecting a smaller number of patients, presented a much lighter molecular basis and, therefore, they provide a precise genetic diagnosis.

free reviews and informative talk

the genetic study is based on a good clinical diagnosis, a diagnosis that, in diseases such as glaucoma, an ophthalmologist should be able to offer in the early stages of the disease to avoid irreversible loss of vision. To promote early diagnosis as a key measure of prevention, early diagnosis of the IMO unit offers since yesterday and until Friday, free eye checks to undiagnosed population at risk. These screening controls will include a test of visual acuity, intraocular pressure outlet and an exploration of the optic nerve.

In addition, today, Tuesday 12, specialists of the IMO will provide briefing the keys to understanding glaucoma ”, an informative conference aimed at patients and the public in general, which will take place at 7.30 h in the Auditorium of the Institute.

About the glaucoma

Glaucoma is a disease that causes progressive damage to the optic nerve, the part of the eye that sends images to the brain. As a result, visual field is declining gradually and can even cause blindness, if it is not treated in time. Currently, glaucoma affects one million people in Spain and is the leading cause of irreversible blindness in the world, where there are about 60 million people with the disease.

Current treatments – drugs, laser, or different types of surgery (trabeculectomy and deep sclerectomy valves) – get reduce eye pressure and slow down the progression of the disease, but do not allow to recover lost vision. Is therefore important to diagnose the disease in early stages, which can be done using simple and painless eye controls.