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Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome Presenting to Neuro-Ophthalmology With Metamorphopsia.

H ereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome is a rare autosomal dominant disorder of Type 4 collagen affecting the vasculature of multiple organ systems including the brain, skin, muscles, kidneys, and retina (1). HANAC syndrome was first described in 2007 in a report of 3 families with varying manifestations attributable to 3 distinct genetic mutations in exons 24 and 25 of the collagen Type IV alpha 1 chain (COL4A1) gene (1). Although the literature on this syndrome is limited to small series in the general medical and neurology literature and 1 case report in a French ophthalmology journal, HANAC syndrome may present with a variety of neuro-ophthalmic sequelae including retinal arteriolar tortuosity and fragility predisposing to spontaneous intra-retinal hemorrhage, intracranial aneurysms, prominent microvascular T2 hyperintensities in the white matter on MRI, and early-onset hemorrhagic or ischemic cerebral stroke (1–3). We report a patient with HANAC syndrome associated with a COL4A1 gene variant who presented with persistent metamorphopsia after resolution of spontaneous macular hemorrhages.