[Case of optic neuritis associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)].
OBJECTIVE
To report a case of optic neuritis associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).


METHODS
A 38-year-old woman presented with visual field defects, ocular pain and relative afferent papillary defect (RAPD). Fluorescein angiography demonstrated peripapillary hyperfluorescence of the optic nerve. Optic neuritis was diagnosed soon after. Routine laboratory data were unremarkable. Brain MRI showed a remarkable enhanced region of white matter and abnormal spots in the capsula externa. Multiple sclerosis was outruled by neurological findings and therefore CARASIL was diagnosed according to the criteria. The patient's vision and inflammation of the optic nerve head gradually improved with systemic steroid therapy, but arterial sheathing was observed during the follow-up period.


CONCLUSIONS
Clinical manifestations such as optic neuritis and retinal vascular change might be caused by the pathological changes of CARASIL. This is the first report of ophthalmic findings of clinicopathological events of CARASIL.
Hashida
Noriyasu
N
Department of Ophthalmology, Osaka University Medical School, Yamadaoka, Japan. nhashida@opthal.med.osaka-u.ac.jp
Ito
Shigeo
S
Hasegawa
Toshihide
T
Kajita
Teppei
T
Morifuji
Hiroko
H
Yamazaki
Yuko
Y
Sakagami
Kenji
K
Yokotani
Shigeo
S
Tanaka
Takehiro
T
Endoh
Bunji
B
Egawa
Naohiro
N
Inoue
Haruhisa
H
Tomimoto
Hidekazu
H
Takahashi
Ryosuke
R
D000328:Adult; D002544:Cerebral Infarction / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D015140:Dementia, Vascular / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009902:Optic Neuritis / Q000209:etiology*; D031300:Retinal Vasculitis / Q000209:etiology; D013577:Syndrome