title: Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.
abstract: OBJECTIVE
  To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options.
  
  
  METHODS
  Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed.
  
  
  CONCLUSIONS
  The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications.
authors.affiliation: Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-9057, United States.
authors.forename: David P
authors.initials: DP
authors.lastname: Kennedy
authors.affiliation: Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-9057, United States.
authors.forename: John W
authors.initials: JW
authors.lastname: Chandler
authors.affiliation: Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-9057, United States. Electronic address: james.mcculley@utsouthwestern.edu.
authors.forename: James P
authors.initials: JP
authors.lastname: McCulley
mesh_terms: D000293:Adolescent; D002971:Cleft Lip / Q000150:complications*; D002972:Cleft Palate / Q000150:complications*; D003316:Corneal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D003937:Diagnosis, Differential; D019468:Disease Management; D015352:Dry Eye Syndromes / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D042241:Early Diagnosis; D004476:Ectodermal Dysplasia / Q000150:complications*; D019573:Epithelium, Corneal / Q000473:pathology; D006801:Humans; D008297:Male; D055815:Young Adult
keywords: Corneal epithelial stem cells; Corneal stromal stem cells; Ectrodactyly-ectodermal dysplasia-cleft syndrome; Ocular surface disorders; p63 mutations