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A 40-year-old woman with renal dysfunction for 2 years was admitted to our hospital suffering from a headache. Family history revealed that her mother had a headache, renal dysfunction, and brain infarction in younger age. She had a retinal hemorrhage, a retinal atrophy, pitting edema in her lower extremities. Her neurological findings were unremarkable. Brain imaging showed multiple white matter lesions accompanied with calcifications and slightly enhancement. Kidney biopsy showed the thrombotic microangiopathy, Gene analysis demonstrated a causative mutation in three-prime repair exonuclease-1 (TREX1) gene, c.703_704insG (p.Val235GlyfsX6), thereby we diagnosed her as retinal vasculopathy with cerebral leukoencephalopathy (RVCL). RVCL is an autosomal dominant condition caused by C-terminal frame-shift mutation in TREX1. TREX1 protein is a major 3' to 5' DNA exonuclease, which are important in DNA repair. While TREX1 mutations identified in Aicardi-Goutieres syndrome patients lead to a reduction of enzyme activity, it is suggested that mutations in RVCL alter an intracellular location of TREX1 protein. There are no treatments based evidences in RVCL. We administered cilostazol to protect endothelial function, and her brain lesions and renal function have not become worse for 10 months after. It is necessary to consider RVCL associated with TREX1 mutation if a patient has retinal lesions, white matter lesions accompanied with calcifications, and multiple organ dysfunction.

Background: Serpiginous choroiditis, a chronic disease affecting the choroid and retinal pigment epithelium, is characterized by acute lesions located adjacent to atrophic scars initiated from the peripapillary region. This report describes a chorioretinal disease accompanied with retinal phlebitis finally diagnosed as serpiginous choroiditis by the characteristic extension of the lesions., Case: A 68-year-old man was referred to our hospital with blurred vision in his both eyes. A small amount of cells infiltrating the vitreous, partial vitreous opacity, retinal phlebitis, grayish-white lesions around the optic disc and retinal phlebitis, and cystoid macular edema were observed in the both eyes. Since active lesions were found at the border of the inactive lesions and appeared in an interlocking polygonal pattern that spread out continuously, the condition was diagnosed as serpiginous choroiditis with retinal phlebitis. Systemic administration of predonisolone was initiated, which resolved the retinal phlebitis, and the active lesions were turned to scars. No recurrence has been observed since., Conclusion: Atypical serpiginous choroiditis accompanied with retinal phlebitis responds to systemic steroid administration.