title: Novel corneal features in two males with incontinentia pigmenti.
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.
authors.affiliation: Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK. ericjmayer@hotmail.com
authors.forename: E J
authors.initials: EJ
authors.lastname: Mayer
authors.forename: G N
authors.initials: GN
authors.lastname: Shuttleworth
authors.forename: K L
authors.initials: KL
authors.lastname: Greenhalgh
authors.forename: J E
authors.initials: JE
authors.lastname: Sansom
authors.forename: R H B
authors.initials: RH
authors.lastname: Grey
authors.forename: S
authors.initials: S
authors.lastname: Kenwrick
mesh_terms: D002648:Child; D003315:Cornea / Q000473:pathology*; D005451:Fluorescein Angiography; D017353:Gene Deletion; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D012160:Retina / Q000473:pathology; D014792:Visual Acuity / Q000502:physiology; D014823:Vitreous Hemorrhage / Q000209:etiology