Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCL-S): Description of a New Pedigree

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations(RVCL-S), a rare autosomal dominant disorder caused by a TREX-1 (3p21) mutation,results in progressive occlusive microangiopathy, leading to visual deterioration,neurologic deficits and variable systemic disorders in middle age. To date, 34 unrelatedfamilies have been described worldwide. RVCL-S is under-recognized and oftenmisdiagnosed as multiple sclerosis. We describe manifestations of the V235Gfs*6,TREX-1 genetic variant in a new pedigree.