Background: Familial retinal arteriolar tortuosity (fRAT) is an autosomal dominant disorder that is characterized by tortuosity of the second and third order retinal arterioles in the macular and peripapillary areas. The genetics of fRAT are incompletely understood but have been associated with a missense mutation in the COL4A1 gene in some cases. fRAT is not typically associated with visual loss and prognosis is good. However, the tortuous arterioles can bleed, causing intraretinal, preretinal, and/or subretinal hemorrhages.
Objective: To describe a case of Terson-like syndrome associated with familial retinal arteriolar tortuosity (fRAT) in the setting of spontaneous spinal hemorrhage.
Results: A 63yo woman presented with blurred vision in both eyes at the time of developing a spontaneous spinal hemorrhage. Ophthalmic exam demonstrated large subhyaloid hemorrhages with intraretinal and subretinal hemorrhages in both eyes in addition to having tortuous retinal arterioles of the second and third order. Visual Acuity at presentation was 20/400 right eye, CF left eye. She was diagnosed with Terson-like syndrome associated with familial retinal arteriolar tortuosity (fRAT) in the setting of a spontaneous spinal hemorrhage, and her vision improved over the year with observation alone.
Conclusions: This is the first documented case of fRAT with hemorrhages associated with a spontaneous spinal hemorrhage
