Abstract

VANEGAS-TORRES, Ana Mercedes et al. Familiar choroideremia: case report with emphasis on clinical evolution and acquisition of visual impairment. Medicas UIS [online]. 2020, vol.33, n.2, pp.109-115.  Epub Aug 30, 2020. ISSN 0121-0319.  https://doi.org/10.18273/revmed.v33n2-2020013.

Choroideremia is a hereditary retinal disease characterized by progressive choroidal and retinal choriocapillary degeneration, it has the ability to limit functioning and generate disability, affecting the persons performance in the family, social and professional environment, by causing difficulties in communication, mobility, displacement and management of your daily life. This eye health condition is caused by a mutation of the gene that encodes the RabEscort-1 protein, located on the Xq21 chromosome. His pathophysiology is not clear, and case reports of familial choroideremia are sparse in Latin America. The case of a 54-year-old man with night blindness and progressive loss of visual acuity is reported, with a younger brother with choroideremia and maternal cousin with suspected disease, with emphasis on clinical evolution, fundus findings and progression to disability category visual, low vision type. MÉD.UIS. 2020;33(2):109-115.

Keywords : Choroideremia; Retinal Diseases; Low vision; Blindness; Nyctalopia.

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