A rare case of occlusive juxtafoveolar retinal telangiectasias associated with lesions of the central nervous system: A cerebroretinal vasculopathy like phenotype without mutations in the TREX1 gene

PURPOSE: To report a rare case of bilateral occlusive juxtafoveolar retinal telangiectasias associated with central nervous system lesions and renal impairment. OBSERVATIONS: A 47-year-old woman presented to clinic with subjective vision loss in the right eye with best-corrected visual acuity (BCVA) 20/80. Fundoscopic examination, fluorescein angiography (FA), and optical coherence tomography with adjunct angiography (OCT/OCT-A) revealed macular microhemorrhages, enlarged foveal avascular zones (FAZ), and occlusive juxtafoveal telangiectasis with pruning of the macular capillaries in both eyes. Patient subsequently developed memory loss, dizziness, nystagmus, and diplopia secondary to intermittent exotropia. She was found to have a two-millimeter aneurysm of the proximal posterior cerebellar artery along with several scattered white matter changes on brain magnetic resonance imaging (MRI). Genetic workup revealed no mutations in the TREX1 gene. With continued surveillance over 18 months, the patient's BCVA deteriorated to 20/200 OU and she developed mild renal impairment, without further CNS complications. CONCLUSION AND IMPORTANCE: Patients who present with vision loss secondary to occlusive juxtafoveolar telangiectasias should undergo imaging of the central nervous system (CNS) for architectural abnormalities in cerebral vasculature and white matter. Further investigation of patients with the Gass-Blodi type 3 macular telangiectasia – cerebroretinal vasculopathy phenotype is required to optimize management protocols for both retinal and CNS lesions. At this time, no interventions have demonstrated clear benefit in vision preservation or recovery.