Ophthalmologists at the University Hospital of Navarra are studying the genes involved in children hyperopia.
-specialists of the Centre Hospitalier lead a multi-center research project in phase of recruitment of patients also involving professionals of La Paz (Madrid), crosses and Institute clinical ophthalmological surgical hospitals (both from Bilbao)
Pamplona, March of 2013- 20% of children under six years presents a non-physiologic farsightednessan error in the visual approach which on numerous occasions should be corrected with lenses and in adults affecting 10% of the population. some degree of farsightedness is normal childhood and does not require treatment since you can compensate by using the natural mechanism of focus (accommodation). When the hyperopia is greater, the accommodation required to focus on the objects on the retina is more intense. As a result, different symptoms such as headaches, can trigger blurred vision and even cause strabismus. Also known that it is a highly hereditary illness, although, so far, little is known about its genetic causes.
For this reason, specialists of the Department of Ophthalmology of the University Clinic of Navarra have initiated a project for research in pediatric patients ages 6 to 17 to clarify the involvement of certain genes in the presence of this visual defect. The investigation, directed by doctor Jesús Barrio, the clinic ophthalmologist, is multicenter and is carried out in cooperation with the unit genetics clinic at the University of Navarra (Director, Dr. Ana Patiño) and Ophthalmology of the Hospital La Paz in Madrid (Coordinator teams(, Dr. Susana Noval), Hospital de Cruces and Clinical surgical eye ICQO Institute, both of Bilbao, (common Coordinator, Dr. Marta Galdós). The genetic samples will be processed in the Experimental Laboratory of Ophthalmology of the University of Navarra and guarded by the BioBank of the University of Navarra.
Recruitment of patients
To develop the study, specialists hope to recruit an initial sample of 300 patients of the aforementioned age group with an equal or greater than 4 dioptres farsightedness. The group control (subjects with no visual defect), which will be compared for hyperopic patients, will be composed by other 300 young adults, in this case with aged between 18 and 25 years. Those interested in participating in the study can contact through the email address: ebonet@unav.es.
equipment research. From left to right: the doctors Elvira Bonet (ophthalmologist) and Ana Patiño (Director u. genetics clinic), the nurse Amalia MartÃnez Sosa (ophthalmology), del Jesús Barrio doctor (ophthalmologist and director of research) and the nurse MarÃa Mendoza (ophthalmology).
The decision to conduct the study in pediatric population is that the child age in presenting a higher incidence of farsightedness and this refractive error causes the majority of other eye problems associated. The importance of these other related diseases is significant for its impact on the integral development of the child affected by visual impairment. This circumstance involves normally frequent consultations for revision, as well as the need for different treatments to regain vision.
importance of early detection
farsightedness occurs because objects are focused behind the retina instead of on it. The ophthalmologic diseases that appear most frequently associated with long-sightedness are fundamentally Strabismus (loss of parallelism between both eyes) and amblyopia (lazy eye, which implies reduction of visual acuity). Its high prevalence in children requires numerous revisions and ophthalmological consultation. In this sense, the early detection of non-physiologic farsightedness is key to be able to treat it early and avoid the complications associated with this refractive error ”, underlines Dr. Jesús Barrio, director of research.
The hypothesis on which is based the study resides in the current knowledge of the importance of the hereditary factors involved in the development of eye refractive ”, reveals the specialist. However, as well as research into the genes of myopia is more advanced, the genetics of farsightedness has been much less studied. This circumstance is due to that in adult myopia can result in potentially more severe pathologies. However, should take into account that, in children, hyperopia is the main cause of visually most relevant problems.
Objectives of the test
The existence of several alterations located in the HGF (Hepatocite Growth Factor) gene associated with long-sightedness was discovered in 2010 in an Australian population adults. The main objective of the current study resides in verify the existence of this association between these genetic markers and farsightedness in hyperopic children selected from a sample of the Spanish population ”, argues researcher. To develop this comparative study is planned to analyze major polymorphisms (genetic variations) associated with this visual defect in hyperopic pediatric patients. To do so, will be the genetic material of the saliva, obtained by brushing the oral mucosa, a novel method, at all annoying, and avoiding the need to click to children to extract genetic samples ”, indicates the ophthalmologist.
In addition, you will notice the frequency of family history of ocular pathology in the whole of hyperopic children studied, as well as the presence of other Visual effects associated with long-sightedness (strabismus, amblyopia, surgeries, etc …).
Should be confirmed the relationship between genetic polymorphisms studied and the existence of hyperopia in children analyzed, would have taken an important step towards the development of a test to detect the risk of pathological hyperopia, a procedure that would be easy and painless for children, affordable cost and that would serve to prevent significant morbidity (other Visual conditions) infant hyperopia associated ”, warns the specialist. The neighborhood doctor predicts that, looking to the future, the important thing would be get to treat or prevent the disease at the genetic level ”.
