Genetics in primary congenital glaucoma: Implications in disease management and counseling

Primary congenital glaucoma is an important cause of visual impairment in children. It can develop both pre- and postnatally. Angle surgery is the first line treatment modality. If the disease remains untreated or if the diagnosis is delayed, it can lead to irreversible visual loss and blindness. The genetics of primary congenital glaucoma are complex and not yet entirely understood. At present multiple disease-causing genes have been identified. CYP1B1 is the most well known gene causing autosomal recessive congenital glaucoma. Other genes have been found to play a role through recessive, dominant or polygenic mechanisms. Here we provide an overview of the known genes and mechanisms described in patients with PCG. Furthermore, we provide a practical counseling and follow-up guideline for relatives of a proband.