the clinic participates in a research to identify new genes that cause congenital glaucoma
his unit of Glaucoma is national reference center
-more than 170 families already have been studied in this Hospital from his congenital glaucoma
-genetic counseling offers allows to establish a diagnosis and early treatment
Madrid, March 2012.- specialists of the unit of Glaucoma in the service of Ophthalmology ClÃnico San Carlos, recognized since 2008 as national reference Center for the study of this pathology, involved in a research project whose main objective is to identify new genes that cause of primary congenital glaucoma, the most common in childhood and that if untreated it can cause blindness.
This research project is part of the thematic network of corporate research on ocular pathology linked to ageing, visual quality and quality of life of the Instituto de Salud Carlos III, and is carried out in collaboration with the service of genetics of the University of Albacete, directed by Dr. Julio Escribano. The researchers hope that the identification of new genes will help to better understand how the disease occurs by facilitating genetic counselling of families affected and helping to early diagnosis and treatment.
The genetic study carried out by the unit of Glaucoma ClÃnico San Carlos is carried out at two levels. On the one hand, in the case of families with children affected with this pathology trace genetic alterations in the family, evaluating the risk of occurrence of new cases in siblings of the patient, making a diagnosis early rather than appear symptoms of the disease; and on the other hand, patients with glaucoma in adult age allowed to know the possibilities of having children affected according to the genetic profile of their partners and early diagnosis of possible new cases. All this helps to establish a fundamental early surgical approach for good visual development of the child in the future.
Identify genetic mutations
A total of 170 families who suffer from congenital glaucoma have benefited from genetic studies carried out by the service of Ophthalmology of the Hospital ClÃnico San Carlos.
The Glaucoma unit of this service offers the possibility of conducting genetic studies to the families of patients affected by this disease three years ago. The aim is to identify genetic mutations associated with the development of this pathology offer genetic counseling and to establish a diagnosis and early treatment of the same.
Prestigious national and international
Approximately 30% of patients with primary congenital glaucoma diagnosed in Spain are carriers of mutations in the gene cytochrome P4501B1 (CYP1B1), already referred to as the genetic cause of this disease in the world in various studies, concludes the work published in the year 2009 in the scientific journal Molecular visionwhose authors include doctor Julián GarcÃa Feijoo.
In this study have been identified up to 16 different in this gene mutations, while it is possible that there are other genetic factors associated with this disease to identify. Recently, in 2011, another study in which he has participated this same specialist, published in the journal Investigative Ophthalmology and Visual Science, has studied the role of variations in the sequence of WDR36 genes and p53 in susceptibility to suffer primary open angle glaucoma.
The concept of congenital glaucoma encompasses a number of eye diseases related to inappropriate development of the anterior chamber and the mesh structures trabecular involving intracular pressure increased from the first days or weeks of life and causing irreversible visual loss in children if it is not treated properly. The clinical unit is Center of national reference for diagnosis and treatment of congenital glaucoma and it receive medical and surgical treatment affected patients of this disease submitted from other centres of the community of Madrid, as well as from other autonomous communities.
This unit has a wide experience in this type of Pathology, since therein have been treated more than 1,200 patients with congenital glaucoma. Doctor GarcÃa Feijóo, quoted Madrid hospital Ophthalmology Service Chief, has achieved a leading team in the treatment of this complex disease, being today one of the units of glaucoma with greater experience in this pathology in the world. It conducted last year 2011 more of 70 surgeries in patients under the age of 14.
On the other hand, this unit is participating in several clinical trials on new implants of derivation, within the framework of the so-called surgery minimally invasive glaucoma, which pursues an effective with the minor associated complications and surgery with a minimum impairment of the quality of life of the patient. The experience of unity in this field has recently been endorsed with the publication of an article in the prestigious British journal British Journal of Ophthalmology, in which report the longer follow-up to date with the implant trabecular Glaukos.
