X-linked Choroideremia

Stephen H Tsang; Tarun Sharma

doi:10.1007/978-3-319-95046-4_9

X-linked Choroideremia

Adv Exp Med Biol. 2018:1085:37-42. doi: 10.1007/978-3-319-95046-4_9.

Authors

Stephen H Tsang^{1

2}, Tarun Sharma³

Affiliations

¹ Jonas 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.
² Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
³ Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. [email protected].

PMID: 30578482
DOI: 10.1007/978-3-319-95046-4_9

Abstract

Choroideremia (CHM) is the most common X-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and retina. Its prevalence is about 1 in 50,000-100,000 people.

Keywords: Choroideremia; X-linked.

Publication types

Review

MeSH terms

Choroideremia / physiopathology*
Genetic Diseases, X-Linked / physiopathology*
Humans