Indiana Law About Seizures

genetic diagnosis can predict the occurrence of congenital glaucoma

Under the Congress that has held these days in Valencia Ophthalmological Society of Valencia, has presented a study showing that one third of patients diagnosed with primary congenital glaucoma in Spain are carriers of mutations in the CYP1B1 gene, the leading genetic cause of this disease.

congenital glaucoma, which occurs in 1 in 10,000 births in the western population is characterized by increased intraocular pressure in the eye. This is a very serious optic neuropathy often presents an autosomal recessive and is a major cause of childhood blindness.

Symptoms can be easily detected by parents and that is in the form of photophobia and tearing, and sometimes with corneal opacity, so that experts have stressed the importance of seeing a doctor in case of observing as Diagnosis is done with a making simple eye strain.

According to Dr. Marina Framework prenatal diagnosis is very complicated because the fetus shows no anatomic abnormality, and if they are present (one eye noticeably bigger) would be detected in an advanced stage of pregnancy. "

The fact that the system functioning at birth causes the baby this very large corneas and lack of transparency.

The genetic study of patients with congenital glaucoma can offer genetic counseling at two levels. On the one hand, in the case of families with affected children can track genetic changes in the family, assessing the risk of new cases, making an early diagnosis before symptoms appear.

Moreover, those affected in adulthood allows them to know the chances of having children with the disease according to the genetic profile their partners, as well as early detection of possible new cases.

As highlighted Dr. Julio Escribano, professor of genetics at the University of Castilla La Mancha "Recent methodological advances in the field of genetics, such massive DNA sequencing, to analyze the complete genome of an individual to quickly show a promising picture. Improved early diagnosis will facilitate the identification of new therapeutic targets and enable the emergence of new treatments. "

For his part, Dr. Douglas Reeh has presented a novel technique to glaucoma treatment still is not done in Spain and is characterized by much less invasive. This is a microsurgical getting back the ability to filter and thus the pressure control, systems damaged eye. Konrad also has developed its conference Schargel around the canaloplasty, a surgical technique that has proven highly effective.

specialist Gonzalo Muñoz has shown the benefits of Deep sclerectomy, one of the least invasive treatment of glaucoma. Has specifically addressed the application of CO2 laser technique that replaces manual dissection making it accurately and easily. The result is a decrease in complications in the intervention because of the increased precision of the laser and a major simplification of surgery in the words of the eye "is now available to any surgeon."