Detection of localized retinal dyfunction in a choroideremia carrier

Purpoe To invetigate evere unilateral viion lo in a choroideremia carrier. Deign Cae report. Method Ocular examination, genetic teting, Humphrey viual field, full-field and multifocal (mf) electroretinogram (ERG) tet were ued to tudy a family with choroideremia. Reult In a carrier with unilateral central viion lo, mfERG howed everely reduced amplitude which correlated with a band of retinal pigment epithelial and choroidal atrophy in the macula, a dene central cotoma on Humphrey viual field teting, and decreaed ERG amplitude. Concluion Multifocal ERG may be a enitive tool to meaure functional abnormalitie in choroideremia carrier. Moaic inactivation of the normal gene may caue expreion of the mutation with evere viion lo in choroideremia carrier.