title: Fluorescein angiographic findings in a male infant with incontinentia pigmenti.
abstract: Incontinentia pigmenti is a rare, X-linked dominant, genodermatosis and is almost always lethal in males. It is characterized by cutaneous, ocular, dental, and central nervous system (CNS) abnormalities and about 35% of patients develop some form of ocular abnormality, which may include retinal vascular abnormalities, ischemic retinal infarctions, retinal detachments, cataracts, uveitis, strabismus, and nystagmus. Incontinentia pigmenti has been linked to the NEMO gene, which is mapped to Xq28.
authors.affiliation: University of Calgary, Calgary, Alberta, Canada.
authors.forename: Giselle
authors.initials: G
authors.lastname: DeVetten
authors.forename: Anna
authors.initials: A
authors.lastname: Ells
mesh_terms: D001706:Biopsy; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography / Q000379:methods*; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000175:diagnosis; D007223:Infant; D017075:Laser Coagulation / Q000379:methods; D008297:Male; D012160:Retina / Q000473:pathology*; D015861:Retinal Neovascularization / Q000175:diagnosis* / Q000209:etiology / Q000601:surgery; D012867:Skin / Q000473:pathology