rss
Br J Ophthalmol 2003;87:554-556 doi:10.1136/bjo.87.5.554
  • Scientific correspondence

Novel corneal features in two males with incontinentia pigmenti

  1. E J Mayer1,
  2. G N Shuttleworth1,
  3. K L Greenhalgh2,
  4. J E Sansom3,
  5. R H B Grey1,
  6. S Kenwrick4
  1. 1Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK
  2. 2Department of Clinical Genetics, St Michael’s Hospital, Southwell Street, Bristol BS2 8EG, UK
  3. 3Bristol Dermatology Centre, Bristol Royal Infirmary, Bristol BS2 8HW, UK
  4. 4Cambridge Institute for Medical Research, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK
  1. Correspondence to: E J Mayer, Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK; ericjmayer{at}hotmail.com
  • Accepted 30 September 20002

Abstract

Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.

Footnotes

    This Article

    1. Abstract
    2. Full text
    3. PDF

    Responses

    1. Submit a response
    2. No responses published

    Social bookmarking

    Register for free content


    Free sample
     This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of BJO.
    View free sample issue >>

    Free archive
    The full back archive is now available for BJO. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006, back to volume 1 issue 1.
    Register to access the free archive >>

    Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.