ORIGINAL ARTICLES   

Minerva Oftalmologica 2008 March;50(1):1-4

Copyright © 2008 EDIZIONI MINERVA MEDICA

language: Italian

Clinical study in a choroideremia carrier with a disease complete manifestation

Simonelli S., Viscogliosi F., Testa F., Della Corte M., Rinaldi M.

Dipartimento di Oftalmologia Seconda Università degli Studi di Napoli Napoli, Italia

Aim. Choroideremia (CHM) is a hereditary corio-retinal dystrophy with a X-linked recessive pattern. It is characterized by retinal pigment epithelial and choroid atrophy, that is progressive and diffuse. The purpose of this study is to describe the clinical features of a CHM carrier with symptoms, functional and morphologic instrumental and structural alterations typical of an affected male.
Methods. One carrier affected by CHM of 75-year-old patient was studied. The patient underwent a complete ophthalmologic evaluation including ocular anamnesis, Ishihara’s color test, best-corrected visual acuity, biomicroscopy, fundus oculi examination, fundus photography, electroretinography and optical computed tomography.
Results. The symptoms of onset were a progressive reduction of the visual acuity and night blindness restriction of visual field. Fundus oculi examination showed a pale optic nerve and a pronounced thinning of the retinal blood vessels with diffuse atrophic zone of the retinal pigmented epithelium and of the choroid including macula.
Conclusion. According to the results of this study that there are cases in which carriers of CHM show clinical features of a serious disease. These cases are in differential diagnosis with other retinal hereditary dystrophies, but the ophthalmologist should not exclude the diagnosis of CHM.