| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8792312 | Journal of American Association for Pediatric Ophthalmology and Strabismus | 2017 | 4 Pages |
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.
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Authors
Mary T. BS, Scott D. MD, MSc, Marie T. MD, MB BCh, Prithvi MD, MHS,