Bilateral presumed ischemic optic neuropathy secondary to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Objective: To report a case of bilateral ischemic optic neuropathy (ION) secondary to hypoperfusion of the optic nerve because of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, an uncommon condition causing stepwise subcortical small vessel infarcts because of arterial wall rigidity, loss of autoregulation, and hypoperfusion.

Methods: We describe the ophthalmological presentation of this case including fluorescein angiography and kinetic perimetry.

Results: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is an increasingly recognized condition with significant neurological sequelae. This case demonstrates the potential for secondary visual loss because of optic nerve hypoperfusion, and the literature confirms this mechanism of injury for both the optic nerve and retina. Retinal screening may add evidence toward the diagnosis in visually asymptomatic patients. Because there is no treatment for the condition, management is symptomatic only but involves psychological support and genetic counseling.

Conclusions: We propose that cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy be added to the list of potential differential diagnoses for ION in young patients.