Familial cavernous hemangioma: An expanding ocular spectrum.
OBJECTIVE
To describe the clinical and genetic findings in a family with multiple cases of cavernous hemangiomas.


METHODS
Investigational clinical and genetic study in which 3 generations of a family consisting of 12 members were screened with magnetic resonance brain imaging, dilated ophthalmoscopic examination, and cutaneous survey coupled with linkage analysis to determine affected individuals and to better define manifestations of this neuro-oculo-cutaneous syndrome.


RESULTS
The proband had multiple cerebral cavernous hemangiomas and a choroidal hemangioma. Her son was found to harbor a retinal cavernous hemangioma. The proband's sister manifested a cerebral cavernous hemangioma, cutaneous hemangiomas, and a presumed choroidal hemangioma; her daughter demonstrated radiological findings suggestive of a cerebral cavernous hemangioma. The father of the proband demonstrated multiple, cutaneous hemangiomas. The remaining family members were free of lesions. The 7q locus could not be excluded as harboring the causative gene.


CONCLUSIONS
This family may have a dominantly inherited neuro-oculo-cutaneous condition of cavernous hemangiomas with variable expressivity. The presence of choroidal hemangiomas in this phacomatosis has not been described previously to our knowledge.


CONCLUSIONS
The presence of either retinal cavernous or choroidal hemangioma should alert the physician to search for features suggestive of systemic and familial involvement; either lesion may constitute the ocular component of the neuro-oculo-cutaneous phacomatosis, sometimes referred to as cavernoma multiplex. Arch Ophthalmol. 2000;118:969-973
Sarraf
D
D
Jules Stein Eye Institute, 100 Stein Plaza, Los Angeles, CA 90095, USA. dsarraf@ucla.edu
Payne
A M
AM
Kitchen
N D
ND
Sehmi
K S
KS
Downes
S M
SM
Bird
A C
AC
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002830:Choroid Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005451:Fluorescein Angiography; D008040:Genetic Linkage; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009887:Ophthalmoscopy; D010375:Pedigree; D016133:Polymerase Chain Reaction; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity
D004273:DNA, Neoplasm