In the latest issue of IM Médico dedicated to the specialty of Ophthalmology, we have published an article entitled "Application of massive sequencing to the diagnosis of ophthalmologic diseases" in which our colleagues Leyre Larzabal and Carlos Martínez discuss the usefulness of this technology and the improvement it has brought to the diagnosis of ophthalmologic pathologies.
As Dr. Leyre Larzabal points out "The clinical diagnosis of this type of disease is complex, since they present overlapping phenotypes, especially when the pathology is in an advanced stage. The genetic diagnosis of these diseases makes it possible to confirm the clinical diagnosis, establish the prognosis and select the most indicated therapy for each patient. In addition, it allows genetic counseling to be offered to the family, establishing the inheritance pattern of the pathology and indicating the probability of transmitting it. Determining the genetic cause of these pathologies also makes it possible to identify asymptomatic carriers who have not yet developed the disease, but who may very likely develop it in the future."
We invite you to read the complete article in the following link.
