Novel corneal features in two males with incontinentia pigmenti
| Autor: | S Kenwrick, E J Mayer, K L Greenhalgh, J E Sansom, G N Shuttleworth, R H B Grey |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Male
Pathology medicine.medical_specialty Genetic mosaic Visual Acuity GENETIC ABNORMALITY medicine.disease_cause Retina Cornea Cellular and Molecular Neuroscience medicine Humans Incontinentia Pigmenti Fluorescein Angiography Child Pigmentation disorder Mutation business.industry Genetic disorder Infant Incontinentia pigmenti Gene deletion medicine.disease Sensory Systems Vitreous Hemorrhage Ophthalmology Etiology sense organs business Gene Deletion Scientific Correspondence |
| Zdroj: | British Journal of Ophthalmology. 87:554-556 |
| ISSN: | 0007-1161 |
| DOI: | 10.1136/bjo.87.5.554 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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