Case of optic neuritis associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

• Published in: Nippon Ganka Gakkai zasshi Vol. 113; no. 4; p. 505
• Main Authors: Hashida, Noriyasu, Ito, Shigeo, Hasegawa, Toshihide, Kajita, Teppei, Morifuji, Hiroko, Yamazaki, Yuko, Sakagami, Kenji, Yokotani, Shigeo, Tanaka, Takehiro, Endoh, Bunji, Egawa, Naohiro, Inoue, Haruhisa, Tomimoto, Hidekazu, Takahashi, Ryosuke
• Format: Journal Article
• Language: Japanese
• Published: Japan 01.04.2009
• Subjects: Adult; Cerebral Infarction - complications; Cerebral Infarction - diagnosis; Cerebral Infarction - genetics; Dementia, Vascular - complications; Dementia, Vascular - diagnosis; Dementia, Vascular - genetics; Female; Genes, Recessive; Humans; Leukoencephalopathy, Progressive Multifocal - complications; Leukoencephalopathy, Progressive Multifocal - diagnosis; Leukoencephalopathy, Progressive Multifocal - genetics; Optic Neuritis - etiology; Retinal Vasculitis - etiology; Syndrome
• ISSN: 0029-0203

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