A new hereditary syndrome characterized by a frontoparietal lobe pseudotumor and retinal capillary abnormalities. Cerebroretinal vasculopathy associated with characteristic subcortical degenerative lesions.
Retinal Vasculopathy with Cerebral Leukodystrophy; Cerebroretinal Vasculopathy.
A genetic disorder first described by M. G. Grand et al in 1988.
No known international incidence.
Autosomal dominant inheritance. The responsible gene has been mapped to 3p21.3-p21.1.
Histopathologic analysis of brain tissue in affected persons demonstrated white matter “necrosis” without vasculitis. Typical retinal findings include perifoveal capillary obliteration, peripheral focal capillary occlusion, and microvascular abnormalities, particularly involving the posterior pole.
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 as 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.
Precautions before anesthesia
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.
Other condition to be considered
Vascular Retinopathy with Cerebral and Renal Involvement, Raynaud and Migraine Phenomena Syndrome: Hereditary vascular retinopathy (HVR), Raynaud disease, and migraine have been reported in a large Dutch family. The HVR shows autosomal dominant inheritance and is characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries that appear preferentially around the macula. This medical condition is allelic to Grand Kaine Fulling Syndrome.
et al: Cerebroretinal vasculopathy. A new hereditary syndrome. Ophthalmology
et al: Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud’s phenomenon. Brain