Bilateral non-arteritic anterior ischemic optic neuropathy as first manifestation of CADASIL in an elderly patient

Excerpt

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small arteriolar disease caused by mutations of NOTCH3 gene [1, 2]. The pathological hallmark of CADASIL is the degeneration of vascular smooth muscle cells and deposition of granular osmiophilic material (GOM) [3, 4]. While it is primarily recognized as a cerebrovascular disease, deposits of GOM have also been observed in retinal vessels and arterioles of the optic nerve [4]. Notably, acute vision loss due to non-arteritic anterior ischemic optic neuropathy (NAION) is not commonly associated with the classical phenotype of CADASIL. However, two reported cases have demonstrated this association, suggesting that optic nerve damage may contribute to visual deficits in this entity [4, 5]. …