Dyskeratosis congenita with corneal limbal insufficiency.
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.
Aslan
Deniz
D
Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey. drdagutf@superonline.com
Ozdek
Sengul
S
Camurdan
Orhun
O
Bideci
Aysun
A
Cinaz
Peyami
P
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
C422952:telomerase RNA; D012313:RNA; D019098:Telomerase