[Choroideremia: manifestations in affected male and female carrier].
METHODS
Ocular phenotypes in an affected male and a female carrier with choroideremia are described.


CONCLUSIONS
Choroideremia is a degenerative retinal disease recognized in the late stages by a near total absence of the choriocapillaris, retinal pigment epithelium and neurosensory retina. Inheritance is X-linked recessive, with males being affected and females acting as carriers. Clinical manifestations include decreased night vision, central vision affected in late stages, peripheral constriction in the visual field and abnormal electroretinogram early in the course of the disease.
Andonegui Navarro J
Hospital de Txagorritxu, Vitoria, España.
Larrauri Arana A
D000328:Adult; D015794:Choroideremia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype