Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Presenting With Unilateral Purtscherlike Retinopathy.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant disorder affecting small cerebral arteries that typically manifests with migraine, ischemic strokes, and resultant cognitive impairment, in the absence of hypertension or other recognized vascular risk factors. Notch3 has been identified as the gene involved in the etiology of CADASIL.1,2 We describe a case of CADASIL that presented with unilateral Purtscherlike retinopathy.
De la Huerta I, Todorich B, Thanos A, Randhawa S. Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Presenting With Unilateral Purtscherlike Retinopathy. JAMA Ophthalmol. 2017 May 1;135(5):502-503. doi: 10.1001/jamaophthalmol.2017.0114. PubMed PMID: 28334364.