Ophthalmic Manifestations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infracts and Leucoencephalopathy

Abstract

Aim of the study: Presentation of ophthalmic symptoms of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infracts and Leucoencephalopathy (CADASIL). Material and methods: Clinical presentation of female patient with diagnosed CADASIL, manifested by transient loss of vision, migraine, convergence insufficiency, diplopia, increased deep tendon reflexes of upper left limb, subcortical infarcts, mood disturbances and dementia. Results: Confirmed NOTCH3 gene mutation (p.Cys212Gly), and presence of granular osmiophilic material (GOM) in cutaneous small vessel wall in immunohistochemistry laboratory test (IHC). Magnetic resonance imaging (MRI) revealed bilateral focal vasogenic lesions in white matter of cerebral hemisphere with single micro-focal infarct in the left external capsule. Furthermore, a left eye exophoria, a bilateral peripheral visual field loss of 20 degrees and a loss of nasolabial fold was confirmed during ophthalmic tests. An eye fundus examination as well as a fluorescein angiography (FA) revealed vessel constriction of retinal arteries and a peripheral retinal pigment epithelium (RPE) atrophy with focal drusen in the left eye. The doppler ultrasonography (USG) confirmed a decreased blood flow and an increased vascular resistance of the extraocular vessels. The pattern electroretinogram (PERG) revealed a reduced P50 wave amplitude in the patient’s left eye. Conclusions: intermittent blindness, migraine, convergence failure, diplopia with specific MRI signs, NOTCH3 mutation, and the presence of GOM in the skin of small blood vessels in a young or middle-aged patient suggests CADASIL. New observations include: atrophic changes in the RPE, hemodynamic disturbances in blood flow in the short posterior ciliary arteries and in the central retinal artery, single drusen in the retina, and a reduced amplitude of the P50 wave in PERG.