A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.

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.