title: Dyskeratosis congenita with corneal limbal insufficiency.
abstract: We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stem cell activity, a biological process caused by underlying telomeric defect in this disease.
authors.affiliation: Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey. drdagutf@superonline.com
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslan
authors.forename: Sengul
authors.initials: S
authors.lastname: Ozdek
authors.forename: Orhun
authors.initials: O
authors.lastname: Camurdan
authors.forename: Aysun
authors.initials: A
authors.lastname: Bideci
authors.forename: Peyami
authors.initials: P
authors.lastname: Cinaz
mesh_terms: D000224:Addison Disease / Q000175:diagnosis; D000293:Adolescent; D003316:Corneal Diseases / Q000150:complications* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007911:Lentigo / Q000175:diagnosis; D016850:Limbus Corneae / Q000098:blood supply / Q000473:pathology*; D012313:RNA / Q000235:genetics; D019098:Telomerase / Q000235:genetics
chemical_list: C422952:telomerase RNA; D012313:RNA; D019098:Telomerase