In the latest issue of IM Médico magazine, dedicated to the field of ophthalmology, we have published an article titled“The Application of Mass Sequencing to the Diagnosis of Ophthalmic Diseases,”in which our colleagues Leyre Larzabal and Carlos Martínez discuss the utility of this technology and the improvements it has brought to the diagnosis of ophthalmic conditions.
As Dr. Leyre Larzabal notes, “The clinical diagnosis of these types of diseases is complex, as they present overlapping phenotypes, especially when the disease is in an advanced stage. Genetic testing for these diseases allows us to confirm the clinical diagnosis, establish the prognosis, and select the most appropriate treatment for each patient. In addition, it allows for the provision of genetic counseling to the family, establishing the pattern of inheritance of the condition and indicating the probability of transmission. Determining the genetic cause of these conditions also enables the identification of asymptomatic carriers who have not yet developed the disease but are very likely to develop it in the future.”
We invite you to read the complete article in the following link.
