Skip to main content
SpringerLink
Log in

X-linked Choroideremia

  • Chapter
  • First Online:
Atlas of Inherited Retinal Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1085))

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Suggested Reading

  • Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, et al. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci. 2006;47:4113–20.

    Article  Google Scholar 

  • Kärnä J. Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol Suppl. 1986;176:1–68.

    PubMed  Google Scholar 

  • MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet. 2014;383:1129–37.

    Article  CAS  Google Scholar 

  • Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol. 2007;125:1107–13.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and 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

    Stephen H. Tsang

  2. Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA

    Stephen H. Tsang & Tarun Sharma

Authors
  1. Stephen H. Tsang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tarun Sharma
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Tarun Sharma .

Editor information

Editors and 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

    Stephen H. Tsang

  2. Department of Ophthalmology, Edward S. Harkness Eye Institute NewYork-Presbyterian Hospital Columbia University, New York, NY, USA

    Tarun Sharma

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG, part of Springer Nature

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Tsang, S.H., Sharma, T. (2018). X-linked Choroideremia. In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_9

Download citation

Publish with us

Policies and ethics

Search

Navigation