Rare form of cerebroretinal vasculopathy with
characteristic subcortical degenerative lesions.
Retinal Vasculopathy with Cerebral Leukodystrophy;
Genetic disorder first described by M.G. Grand et al. in
Autosomal dominant inheritance. The responsible gene has been mapped to
Histopathologic analysis of brain tissue in
affected persons demonstrated white matter “necrosis” without vasculitis.
Based on the clinical findings of visual impairment
and neurologic signs. Disease is characterized by progressive subcortical
contrast-enhancing lesions with surrounding edema, mimicking tumors and
often leading to biopsies in numerous patients. The association of
retinopathy, Raynaud syndrome, migraine, and kidney involvement should raise
suspicion of this condition.
Features involve the eyes (retinal changes such
vasculopathy, exudates, or hemorrhage, visual loss, cataract, glaucoma,
buphthalmos) and central nervous system (structural anomalies, speech defect, hemiparesis,
seizures). Leg pain and weakness are frequent. Punctate vasculitic skin
lesions can be observed.
Evaluate neurologic function
(clinical, CT, MRI, EEG, epilepsy control). Evaluate visual impairment
(clinical, ophthalmologic consult).
Visual impairment and speech difficulties
may make the operating area a scary environment for these patients. Sedative
and/or anxiolytic premedication may therefore be helpful. Lubrication and
protection of the eyes are required for patients with buphthalmos.
Consider interaction between
antiepileptic treatment and anesthetic drugs. Avoid drugs that can increase
intraocular pressure or those that may trigger seizures.
Vascular Retinopathy with Cerebral and Renal Involvement, Raynaud
and Migraine Phenomena Syndrome: Allelic to Grand Kaine Fulling syndrome.
Grand MG, Kaine J, Fulling K, et al: Cerebroretinal vasculopathy. A new
hereditary syndrome. Ophthalmology