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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 and
  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.

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