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X-linked Choroideremia.

Stephen H Tsang1,2, Tarun Sharma3

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary
This summary is machine-generated.

Choroideremia (CHM) is an X-linked inherited eye disease causing vision loss. This condition leads to the progressive degeneration of the retina and its supporting layers.

Keywords:
ChoroideremiaX-linked

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Choroideremia (CHM) is a rare, X-linked genetic disorder.
  • It is the most common hereditary choroidal dystrophy.
  • CHM causes progressive vision impairment due to degeneration of the retina and RPE.

Purpose of the Study:

  • To describe the key characteristics of Choroideremia.
  • To highlight the prevalence and genetic basis of CHM.
  • To provide an overview of the pathological features of this X-linked condition.

Main Methods:

  • Review of existing literature on Choroideremia.
  • Analysis of prevalence data.
  • Description of the clinical and pathological manifestations.

Main Results:

  • Choroideremia affects males predominantly due to its X-linked inheritance pattern.
  • The disease involves progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and neurosensory retina.
  • Prevalence estimates range from 1 in 50,000 to 100,000 individuals.

Conclusions:

  • Choroideremia is a significant cause of X-linked visual impairment.
  • Understanding CHM's progressive nature is crucial for patient management.
  • Further research into CHM pathogenesis and treatment is warranted.