title: Two patients with severe corneal disease in KID syndrome.
abstract: OBJECTIVE
  To report two independent Japanese patients with keratitis, ichthyosis, and deafness (KID) syndrome and severe corneal disorder.
  
  
  METHODS
  Observational case reports.
  
  
  METHODS
  Clinical observation of a 5-year-old boy (Patient 1) and a 64-year-old man (Patient 2) with KID syndrome, presenting prominent corneal diseases. Molecular genetic assessment of the GJB2 gene encoding connexin-26 was performed.
  
  
  RESULTS
  Patient 1 had bilateral diffuse superficial punctuate keratopathy with severe corneal neovascularization. He had a missense mutation of the GJB2 gene. Patient 2 had bilateral corneal stromal keratitis and right corneal ulceration with rupture of the Descemet membrane. He did not have any pathologic mutation of the GJB2 gene. The area of palisades of Vogt was diminished and tear production reduced in both patients. Topical eye drops, and corticosteroid or antibiotics, respectively, relieved them effectively.
  
  
  CONCLUSIONS
  The impaired ocular surface regulating system might be a cause of corneal disease in KID syndrome and it can be treated by eye drops.
authors.affiliation: Department of Ophthalmology, Kagoshima University, Japan. shou@m3.kufm.kagoshima-u.ac.jp
authors.forename: Shozo
authors.initials: S
authors.lastname: Sonoda
authors.forename: Eisuke
authors.initials: E
authors.lastname: Uchino
authors.forename: Koh-Hei
authors.initials: KH
authors.lastname: Sonoda
authors.forename: Shinichi
authors.initials: S
authors.lastname: Yotsumoto
authors.forename: Eiichi
authors.initials: E
authors.lastname: Uchio
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Isashiki
authors.forename: Taiji
authors.initials: T
authors.lastname: Sakamoto
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D016510:Corneal Neovascularization / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D003320:Corneal Ulcer / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D005938:Glucocorticoids / Q000627:therapeutic use; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009883:Ophthalmic Solutions; D013577:Syndrome
chemical_list: D000900:Anti-Bacterial Agents; D017630:Connexins; C000607042:GJB2 protein, human; D005938:Glucocorticoids; D009883:Ophthalmic Solutions; D000072259:Connexin 26