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An Expanding Ocular Spectrum

David Sarraf, MD; Annette M. Payne, PhD; Neil D. Kitchen, MD; Kulwant S. Sehmi; Susan M. Downes, MD; Alan C. Bird, MD

Arch Ophthalmol. 2000;118:969-973.

Objective  To describe the clinical and genetic findings in a family with multiple cases of cavernous hemangiomas.

Design  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.

Clinical Relevance  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.

From the Jules Stein Eye Institute, University of California, Los Angeles, School of Medicine, Charles R. Drew University/Martin Luther King Medical Center, and the Ophthalmology Department, Greater Los Angeles Veteran's Administration Healthcare Center (Dr Sarraf); Institute of Ophthalmology and Moorfields Eye Hospital, London, England (Drs Payne, Downes, and Bird and Mr Sehmi); and the Institute of Neurology, Queen Square, London (Dr Kitchen).

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