Optic Atrophy 12 (OPA12)
Optic Atrophy 12 (OPA12)
OMIM number: 618977
Comments closing date: 29/08/2025
Optic atrophy-12 is a autosomal dominant
neurologic disorder characterised by slowly
progressive visual impairment with onset usually in
the first decade. In affected individuals the axons of the optic nerve degenerate, leading to pallor of
the optic disc, vision loss, and reduced visual field.
Up to 20% of patients may exhibit additional
neurologic features, including impaired intellectual
development, hearing loss, dystonia, movement
disorders, or ataxia. The severity of the disease is
highly variable, ranging from mild visual
impairment to legal blindness. There are currently
no approved curative treatments. Only supportive
management options exist for these conditions
which include low vision support services, assisted
technology and magnifiers and psychological
support. Decreased quality of life has been
demonstrated in various hereditary eye diseases.
Vision-related quality of life has been reported to
be heavily impacted with increased need for
dependency to perform daily tasks and for overall
daily functioning. Younger people reported
increased difficulties performing various
educational activities and adults reported being
significantly impacted by inability to drive a car.
Patients with inherited optic atrophy reported
nearing levels of depression and anxiety as seen
in some patients undergoing cancer treatment.
Review date: 25 July 2027
