Primary congenital, juvenile open-angle glaucoma secondary tonon-acquired ocular abnormalities [55 genes]

Service designed to study at the genetic level 3 large groups of glaucomas according to the CGRN (Childhood Glaucoma Research Network) classification simultaneously:

• Primary congenital glaucoma: Glaucoma that associates with buphthalmos and that develops in the absence of acquired or non-acquired conditions typical of other groups in the classification. According to the time of appearance, it is classified as neonatal (0-1 month), infantile (1-24 months) and late (24 months). It is due to mild anomalies of the anterior ocular segment that are not included in the other groups because they are less characteristic or recognizable.
• Juvenile open-angle glaucoma: Glaucoma that develops in the absence of acquired or non-acquired conditions typical of other groups in the classification, without ocular enlargement and with a normal-appearing angle. The earliest age of onset is considered to be 4 years old, and it can appear up to 30 – 40 years.
• Glaucoma secondary to non-acquired ocular anomalies without systemic manifestations: Glaucoma that develops without prior cataract surgery in the context of a predominantly ocular non-acquired condition.

• Primary congenital glaucoma: estimated at 1/45,450 newborns in Europe.
• Juvenile open-angle glaucoma: estimated at 0.30/100,000 newborns.
• Glaucoma secondary to non-acquired ocular anomalies without systemic manifestations: unknown.

This service carefully selects the entities that cause any of these types of glaucoma. Given the clinical diagnosis of any of them, this gene panel is a good option to reach the final diagnosis.

A highly suspected diagnosis of an entity of any of the 3 large diagnostic groups included in this panel is an indication to request the service.