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Novel corneal features in two males with incontinentia pigmenti

¹ Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK
² Department of Clinical Genetics, St Michael’s Hospital, Southwell Street, Bristol BS2 8EG, UK
³ Bristol Dermatology Centre, Bristol Royal Infirmary, Bristol BS2 8HW, UK
⁴ Cambridge Institute for Medical Research, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK

Correspondence to:
Correspondence to:
E J Mayer, Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK;
ericjmayer{at}hotmail.com

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.

Keywords: incontinentia pigmenti; mosaic; cornea; retina; male