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Article

[Choroideremia: manifestations in affected male and female carrier].

Archivos de la Sociedad Espanola de Oftalmologia - 1 Dec 2000

Andonegui Navarro J, Larrauri Arana A

Abstract excerpt

CASE REPORT: Ocular phenotypes in an affected male and a female carrier with choroideremia are described. COMMENT: 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...

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PMID: 11151283

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