Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3.

ABSTRACT:

Background

Choroideremia is an X-linked recessive disorder characterized by vision loss with progressive atrophy of the retinal photoreceptors, retinal pigment epithelium (RPE), and choriocapillaris. Ectodermal dysplasia is a heterogeneous group of disorders characterized by a deficiency of two or more ectodermal derivatives. We report on the phenotypic and genetic characteristics of a 29-year-old woman with both choroideremia and ectodermal dysplasia.

Materials and methods

Observational case report with physical and ophthalmic examination, fluorescein angiography (FA), visual field testing, electroretinography, and cytogenetic analysis. This study adhered to the tenets of the Declaration of Helsinki and The New York Eye and Ear Infirmary Institutional Review Board guideline

SUBMITTER: Mukkamala K 

PROVIDER: S-EPMC3056021 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature