7A Cerebroretinal Vasculopathy, CRV, RVCL, TREX, HERNS, Case 7) 1 | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | MYELIN (NON-IMMUNE MEDIATED)

Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 7A Cerebroretinal Vasculopathy, CRV, RVCL, TREX, HERNS, Case 7) 1

The gross appearance of this lesion is very suggestive of radiation induced necrosis; however, the patient’s history provided no support for that idea. Eventually it was recognized that multiple members of this single family developed the distinctive illustrated pathology. With time other unrelated families were identified with the same TREX mutation and neuropathology.

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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 7A Cerebroretinal Vasculopathy, CRV, RVCL, TREX, HERNS, Case 7) 1