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Familial cavernous hemangioma: An expanding ocular spectrum
D Sarraf1, A M Payne, N D Kitchen
1Jules Stein Eye Institute, 100 Stein Plaza, Los Angeles, CA 90095, USA. dsarraf@ucla.edu
Archives of Ophthalmology (Chicago, Ill. : 1960)
|July 19, 2000
Summary
This study identified a dominantly inherited neuro-oculo-cutaneous syndrome involving cavernous hemangiomas in a family across three generations. Findings highlight variable expressivity and previously undescribed choroidal hemangiomas in this phacomatosis.
Area of Science:
- Genetics
- Ophthalmology
- Neurology
Background:
- Cavernous hemangiomas are vascular malformations that can affect various organs.
- Neuro-oculo-cutaneous syndromes involve the nervous system, eyes, and skin.
- Familial inheritance patterns are observed in some cavernous hemangioma cases.
Purpose of the Study:
- To investigate the clinical and genetic basis of cavernous hemangiomas within a multi-affected family.
- To define the manifestations of a potential neuro-oculo-cutaneous syndrome.
- To identify potential genetic loci associated with the condition.
Main Methods:
- Magnetic resonance brain imaging (MRI) for cerebral evaluation.
- Dilated ophthalmoscopic examination for ocular assessment.
- Cutaneous surveys and linkage analysis across three family generations.
Main Results:
- Multiple affected individuals identified with cerebral, retinal, and cutaneous cavernous hemangiomas.
- Choroidal hemangiomas were observed, a novel finding in this phacomatosis.
- Variable expressivity of the condition was noted among family members.
- The 7q locus was not excluded as the location of the causative gene.
Conclusions:
- The family likely exhibits a dominantly inherited neuro-oculo-cutaneous condition characterized by cavernous hemangiomas.
- The presence of ocular cavernous hemangiomas (retinal or choroidal) suggests potential systemic and familial involvement.
- Ocular lesions may represent the ocular component of this phacomatosis, also known as cavernoma multiplex.
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