Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus Labowsky, M. T., Walter, S. D., McDonald, M. T., Mruthyunjaya, P. 2017; 21 (5): 426–29.e1

Abstract

Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found to harbor a nonsense mutation of the CCM1 gene.

View details for PubMedID 28867399