Novel corneal features in two males with incontinentia pigmenti.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 12714390.
- Also identified by PMC identifier 1771667.
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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.
Medical subject headings
- Cornea
- Incontinentia Pigmenti