Detection of localized retinal dysfunction in a choroideremia carrier.
OBJECTIVE
To investigate severe unilateral vision loss in a choroideremia carrier.


METHODS
Case report.


METHODS
Ocular examination, genetic testing, Humphrey visual fields, full-field and multifocal (mf) electroretinogram (ERG) tests were used to study a family with choroideremia.


RESULTS
In a carrier with unilateral central vision loss, mfERG showed severely reduced amplitudes which correlated with a band of retinal pigment epithelial and choroidal atrophy in the macula, a dense central scotoma on Humphrey visual fields testing, and decreased ERG amplitudes.


CONCLUSIONS
Multifocal ERG may be a sensitive tool to measure functional abnormalities in choroideremia carriers. Mosaic inactivation of the normal gene may cause expression of the mutation with severe vision loss in choroideremia carriers.
Cheung
Marsha C
MC
University of California School of Medicine, San Francisco, California 94143-0730, USA.
Nune
George C
GC
Wang
Min
M
McTaggart
Kerry E
KE
MacDonald
Ian M
IM
Duncan
Jacque L
JL
D000368:Aged; D015794:Choroideremia / Q000235:genetics / Q000503:physiopathology*; D004596:Electroretinography; D005260:Female; D006579:Heterozygote; D006801:Humans; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000235:genetics / Q000503:physiopathology*; D012607:Scotoma / Q000235:genetics / Q000503:physiopathology; D014792:Visual Acuity; D014794:Visual Fields