Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.

ABSTRACT:

Importance

Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations.

Objective

To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.548G>A), was present in the choroidal hemangioma of a patient with Sturge-Weber syndrome.

Design, setting, and participant

Using laser-capture microdissection, choroidal blood vessels were isolated from paraffin-embedded tissue sections, and genomic DNA was extracted for mutational analysis. Choroidal sections were analyzed in parallel. A patient with cho

SUBMITTER: Bichsel CA 

PROVIDER: S-EPMC6382586 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature