title: Retinal hemorrhages in a patient with dyskeratosis congenita.
abstract: Dyskeratosis congenita, also referred to as Zinsser-Cole-Engman syndrome, is characterized by reticular skin pigmentation, dystrophic nail changes, and mucosal leukoplakia. Other findings include carious teeth, premature graying of hair, and osteoporosis. Approximately 50% of patients develop pancytopenia. Ophthalmologic manifestations include blepharitis, conjunctivitis, obliteration of the lacrimal puncta, nasolacrimal duct obstruction, ectropion, and loss of eyelashes. We report bilateral retinal hemorrhages from pancytopenia in a patient with dyskeratosis congenita.
authors.affiliation: Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
authors.forename: Sayeda
authors.initials: S
authors.lastname: Nazir
authors.forename: Namrata
authors.initials: N
authors.lastname: Sayani
authors.forename: Paul H
authors.initials: PH
authors.lastname: Phillips
mesh_terms: D001803:Blood Transfusion; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D012166:Retinal Hemorrhage / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D014792:Visual Acuity; D055815:Young Adult