Disease or Syndrome
choroideremia
Subclass of:
Genetic Diseases, X-Linked;
Eye Diseases, Hereditary;
Choroid Diseases
Definitions related to choroideremia:
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A rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It leads to progressive loss of vision.NCI ThesaurusU.S. National Cancer Institute, 2021
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An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and � after age 25 years � with careful fundus examination.GeneReviewsUniversity of Washington, 2021
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Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details...National Center for Advancing Translational Sciences
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