ClÃnico San Carlos participates in a genetic study of congenital glaucoma.
your Glaucoma unit is national reference center.
Spain, January of 2013. The ClÃnico San Carlos Ophthalmology service has participated in a genetic study centered at the CYP1B1 gene in patients with congenital glaucoma primary and non-dominant juvenile glaucoma, which has just been published in the prestigious journal Ophthalmology, and in which is evident that the absence of this gene activity involvesoften very severe glaucoma phenotypes.
It is the largest study published in Europe of primary congenital glaucoma in which 161 patients participated. The study also demonstrates that this pathology associated with defects in the CYP1B1 gene is not a monogenic disease and that the aforementioned gene activity levels can influence the phenotype of glaucoma.
The study has been carried out together with the Area of genetics in the Faculty of medicine and Research Institute on neurological disabilities from the University of Castilla – La Mancha, Spain, in Albacete, and he participated the doctors Laura Morales, José MarÃa MartÃnez de la Casa y Julián GarcÃa Feijoo all belonging to the service of Ophthalmology of the Clhome, as well as MarÃa Teresa GarcÃa Antón, optometrist.
More research studies
The specialists of the Madrid hospital Glaucoma unit recognized since 2008 as national reference centre in congenital Glaucoma, also participated this year in a research project whose main objective is to identify new genes of primary congenital glaucoma, the most common in childhood and that if untreated may lead to blindness.
This project is framed within 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.
A total of 170 families suffering from congenital glaucoma have benefited from genetic studies that performs the service of Ophthalmology ClÃnico San Carlos. 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 leading genetic cause of this disease in the world in various studies.
Doctor Julián GarcÃa Feijóo, Chief of service of Ophthalmology of that Centre, has achieved a pointer team in treating this complex disease, being today one of the units of glaucoma with more experience in this pathology in the world. In it were 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 about new implants bypass, in the framework of the so-called surgery minimally invasive glaucoma, which pursues a surgery with a minimum impairment of the quality of life of the patient and efficient with minor complications associated.
The experience of unity in this field has been endorsed recently with the publication of an article in the prestigious British journal British Journal of Ophthalmology, in which report higher follow-up to date with the implant trabecular Glaukos, as well as the forthcoming publication of the first clinical results of the new implant Glaukos in the same magazine.
