Familial Retinal Arteriolar Tortuosity with Acute Hippocampal Infarction

Abstract

Purpose: To report a case of familial retinal arteriolar tortuosity with acute hippocampal infarction. Method: Single-patient case report. Results: A 50-year-old woman presented with blurred vision and was found to have cataract, retinal hemorrhages, and tortuous retinal arterioles in both eyes. Similar findings of tortuous retinal arterioles were observed in her daughter and son. In her past history of 6 years prior to the visit, she had been diagnosed with transient global amnesia after brain magnetic resonance imaging, which showed hippocampal infarction and multiple chronic ischemic lesions in the periventricular and subcortical white matter. Conclusion: Familial retinal arteriolar tortuosity is known to affect the retinal vessels only. To our knowledge, this is the first report of ischemic injury to the brain in a patient with familial retinal arteriolar tortuosity.

Familial retinal arteriolar tortuosity and quantification of vascular tortuosity using swept-source optical coherence tomography angiography

“…Although vascular dissections have not been widely associated with FRAT, there have been reports of FRAT and COL4A1 mutations associated with carotid aneurysms, cerebral aneurysms, and strokes. 9 , 10 , 11 Finally, compared to fundus photographs taken almost 50 years prior, current photographs demonstrate increased retinal arteriolar tortuosity in Case 2, which is consistent with previous reports indicating that vessel tortuosity increases with age in FRAT patients. 2 …”

Association between retinal vascular measures and brain white matter lesions in schizophrenia

“…Our findings are in accord with previous studies that reported an association between white matter lesions and retinal vascular measures in healthy individuals or other disease conditions; association between white matter lesions and FD (Hilal et al, 2014;McGrory et al, 2019), (Wong et al, 2002a(Wong et al, , 2002b, retinal vascular tortuosity (Kim et al, 2017;Kwa et al, 2002) have been reported. However, unlike previous studies, we did not find a significant relationship between retinal vascular diameter and white matter hypo-intensity (Hilal et al, 2014;Kwa et al, 2002;Mutlu et al, 2016a).…”

A case series from a single family of familial retinal arteriolar tortuosity with common history of sudden visual loss

“…In patients with FRAT, the cause of visual loss is a sub-ILM hemorrhage at the macula. In most cases as in the current case, the clinical picture improves without treatment, 2 , 11 , 13 , 14 but if the hemorrhages are bilateral or the visual loss is severe, treatment is considered. Chen et al 15 performed Nd:YAG laser membranotomy to treat sub-ILM hemorrhage at the macula in a patient with FRAT and reported that the treatment was effective when rapid visual recovery is needed due to bilateral sub-ILM hemorrhages at the macula.…”