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Typical pathological changes of CADASIL in the optic nerve.
A Rufa1, A Malandrini, M T Dotti
1Neurology and Neurometabolic Disease Unit Center for the Diagnosis, Prevention and Therapy of Neurological Handicap, Department of Neurological and Behavioral Sciences, Medical School, University of Siena, Viale Bracci 2, I-53100 Siena, Italy.
Summary
Visual impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is linked to optic nerve changes. Autopsy revealed myelin pallor and fiber rarefaction, suggesting optic nerve pathology contributes to vision loss in CADASIL.
Area of Science:
- Neurology
- Ophthalmology
- Pathology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can cause visual impairment.
- Previous studies noted retinal arteriopathy but lacked optic nerve pathology reports.
Observation:
- Autopsy of a 41-year-old female with genetically confirmed CADASIL.
- Examination of optic nerve longitudinal and transverse sections using histological methods.
- Identification of granular osmiophilic material (GOM) in meningeal and white matter vessels.
Findings:
- Diffuse myelin pallor and rarefaction of optic nerve fibers were observed.
- Granular osmiophilic material (GOM) deposits were present in the tunica media of meningeal and white matter vessels.
- Slight narrowing of arteriole lumina was noted.
Implications:
- The typical pathological changes of CADASIL extend to the optic nerve.
- Optic nerve pathology in CADASIL may significantly contribute to visual dysfunction.
- This study highlights the importance of considering optic nerve involvement in CADASIL-related visual impairment.