Background:CADASIL is an inherited small vessel dis-ease related to Notch3gene mutation s.Aim:To report retinal findings in symptomatic CADASIL patients.Meth-ods:Assessment of visual acuity(VA),testing of visual field...Background:CADASIL is an inherited small vessel dis-ease related to Notch3gene mutation s.Aim:To report retinal findings in symptomatic CADASIL patients.Meth-ods:Assessment of visual acuity(VA),testing of visual fields(VF),funduscopic examination(FE),and fluo-rescein angiography(FA)were carried out in 18symp-tomatic patients.Results:No visual symptoms were pre-sented by our patients.VA was normal in all.Ophthal-mologic abnormalities were found in8patients.VF were normal except for a right hemianopia in one subject due to ischemic stroke.FE and FA revealed s ignificant abnor-malities in seven other subjects(mean age:55years;range:39-74):nerve fibre loss(n=4),cotton wool spots(n=3),sheathed arteries(n=1),and tortuous arteries(n=1).Only one patient with both tortuous arteries and nerve fibre loss had multiple vascul ar risk factors,and another patient with cotton wool spots was a current smoker.Conclusion:FE and FA revealed silent retinal abnormalities in CADASIL patients with nerve fibre loss in22%and cotton wool spots in 17%.The p resence of these abnormal retinal findings does not s eem related to the severity of the disorder but may be considered as peripheral markers of this genetic disease.展开更多
文摘Background:CADASIL is an inherited small vessel dis-ease related to Notch3gene mutation s.Aim:To report retinal findings in symptomatic CADASIL patients.Meth-ods:Assessment of visual acuity(VA),testing of visual fields(VF),funduscopic examination(FE),and fluo-rescein angiography(FA)were carried out in 18symp-tomatic patients.Results:No visual symptoms were pre-sented by our patients.VA was normal in all.Ophthal-mologic abnormalities were found in8patients.VF were normal except for a right hemianopia in one subject due to ischemic stroke.FE and FA revealed s ignificant abnor-malities in seven other subjects(mean age:55years;range:39-74):nerve fibre loss(n=4),cotton wool spots(n=3),sheathed arteries(n=1),and tortuous arteries(n=1).Only one patient with both tortuous arteries and nerve fibre loss had multiple vascul ar risk factors,and another patient with cotton wool spots was a current smoker.Conclusion:FE and FA revealed silent retinal abnormalities in CADASIL patients with nerve fibre loss in22%and cotton wool spots in 17%.The p resence of these abnormal retinal findings does not s eem related to the severity of the disorder but may be considered as peripheral markers of this genetic disease.
