Purpose: To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1. Methods: An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations. Results: Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G→C), which is predicted to result in abnormal protein splicing. Conclusions: Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.
- CCM1/KRIT1 gene
- Cerebral cavernous hemangioma
- Retinal cavernous hemangioma
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health