Autosomal dominant
Linked to changes in one copy of OPTN (optineurin), including the Glu50Lys (E50K) variant. The mechanism is not fully understood.
Signs and symptoms
Gradual damage to the optic nerve and progressive loss of side vision, while measured eye pressure stays within the normal range. In the E50K family studied, onset was early, with marked optic disc cupping.
What a diagnosis changes
Regular eye examinations, including optic nerve and visual field checks, allow early detection; lowering eye pressure with drops, laser or surgery can help stabilise visual field loss even when pressure is normal. Relatives may benefit from earlier and more frequent eye checks, and genetic counselling can help with testing of family members.
Genes analysed
Also known as
NTG
