Progressive vision loss. A rare manifestation of familial cavernous angiomas
S. Malik, B. H. Cohen, J. Robinson, A. Fried and C. A. Sila
Department of Neurology, Cleveland Clinic Foundation, OH 44195.
We studied four generations of a family in which the index case had
progressive loss of vision secondary to a cavernous angioma of the optic
nerve and chiasm. Magnetic resonance imaging of the brain revealed
multiple, asymptomatic intracerebral cavernous angiomas. Brain magnetic
resonance imaging scans of the family members revealed multiple cavernous
angiomas in the brother and paternal grandfather, but none in the father or
his siblings. Autopsy reports of the paternal great grandfather noted
multiple cavernous angiomas in the brain and abdominal viscera. We believe
our patient to be the sixth reported case in which a cavernous angioma
involved the optic chiasm and optic nerve. Magnetic resonance imaging is a
sensitive and specific method of detecting cavernous angiomas. Cavernous
angiomas have an autosomal dominant pattern of inheritance with variable
penetrance. Surgical intervention in patients with symptomatic cavernous
angiomas depends on the location and size of the lesion and associated
surgical risks.
