Objective: To describe the clinical and genetic findings in a family with m
ultiple cases of cavernous hemangiomas.
Design: Investigational clinical and genetic study in which 3 generations o
f a family consisting of 12 members were screened with magnetic resonance b
rain imaging, dilated ophthalmoscopic examination, and cutaneous survey cou
pled with linkage analysis to determined affected individuals and to better
define manifestations of this neuro-oculo-cutaneous syndrome.
Results: The proband had multiple cerebral cavernous hemangiomas and a chor
oidal hemangioma. Her son was found to harbor a retinal cavernous hemangiom
a. The proband's sister manifested a cerebral cavernous hemangioma cutaneou
s hemangiomas, and a presumed choroidal hemangioma; her daughter demonstrat
ed radiological findings suggestive of a cerebral cavernous hemangioma. The
father of the proband demonstrated multiple, cutaneous hemangiomas. The re
maining family members were free of lesions. The 7q locus could not be excl
uded as harboring the causative gene.
Conclusions: This family may have a dominantly inherited neuro-oculo-cutane
ous condition of cavernous hemangiomas with variable expressivity. The pres
ence of choroidal hemangiomas in this phacomatosis has not been described p
reviously to our knowledge.
Clinical Relevance: The presence of either retinal cavernous or choroidal h
emangioma should alert the physician to search for features suggestive of s
ystemic and familial involvement; either lesion may constitute the ocular c
omponent of the neuro-oculo-cutaneous phacomatosis, sometimes referred to a
s cavernoma multiplex.