Format

Send to

Choose Destination
See comment in PubMed Commons below
Graefes Arch Clin Exp Ophthalmol. 2010 Sep;248(9):1359-61. doi: 10.1007/s00417-010-1329-6. Epub 2010 Mar 20.

Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.

Author information

1
NYU Langone Medical Center, 530 First Avenue, New York, NY 10016, USA. reddys02@gmail.com

Abstract

BACKGROUND:

Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas.

METHODS:

Fluorescein angiography, spectral domain optical coherence tomography, and genetic testing were performed on a patient with a retinal cavernous hemangioma and a CCM.

RESULTS:

Our patient was heterozygous in the KRIT1/CCM1 gene for a frameshift mutation, c.1088delC. This would be predicted to result in premature protein termination.

DISCUSSION:

We have identified a novel mutation in the KRIT1/CCM1 gene in a patient with both CCM and retinal cavernous hemangioma. We hypothesize that the occurrence of retinal cavernous hemangiomas and CCMs is underlaid by a common mechanism present in the KRIT1/CCM1 gene.

PMID:
20306072
PMCID:
PMC2910301
DOI:
10.1007/s00417-010-1329-6
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer Icon for PubMed Central
    Loading ...
    Support Center