Individuals with the inherited progressive microangiopathy Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts (CADASIL) most classically develop migraine with aura and recurrent subcortical ischemic infarcts with progressive cognitive decline, gait dysfunction, psychiatric disturbances culminating in early death. However, clinically important venous pathologies may not be anticipated by treating neurologists such as branch retinal vein occlusions (BRVOs). Herein we describe a case of CADASIL with a BRVO and a brief review of venous pathology in CADASIL.
A 66-year-old man with CADASIL and clinical symptoms of chronic migraine with aura, episodic “CADASIL coma,” recurrent subcortical ischemic infarcts and normal cognition presented with an asymptomatic superior BRVO. Retinal analysis by wide-field fluorescein angiography revealed dye extravasation and optical coherence tomography identified macular edema prompting a monthly regimen of intravitreal bevacizumab. Systemic investigations for provoking etiologies was unfruitful tentatively attributing the BRVO to his underlying CADASIL.
Within CADASIL, the venous circulation undergoes similar pathologic changes as compared with the arterial circulation. The retinal veins of CADASIL exhibit increased venous compliance, vessel wall diameter and wall thickness which may represent a structurally causative factor for retinal venous disease. However, these findings are not isolated to the retina as lower extremity varicose veins have associated with a family pedigree of CADASIL. Although presently it is uncertain whether those with CADASIL should undergo routine retinal screening, neurologists, and ophthalmologists, need to be cognizant of the extra-arterial manifestations of CADASIL to provide comprehensive clinical care.