Two patients with severe corneal disease in KID syndrome

Shozo Sonoda, Eisuke Uchino, Koh Hei Sonoda, Shinichi Yotsumoto, Eiichi Uchio, Yasushi Isashiki, Taiji Sakamoto

Research output: Contribution to journalArticlepeer-review

30 Citations (Scopus)


PURPOSE: To report two independent Japanese patients with keratitis, ichthyosis, and deafness (KID) syndrome and severe corneal disorder. DESIGN: 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. CONCLUSION: The impaired ocular surface regulating system might be a cause of corneal disease in KID syndrome and it can be treated by eye drops.

Original languageEnglish
Pages (from-to)181-183
Number of pages3
JournalAmerican journal of ophthalmology
Issue number1
Publication statusPublished - Jan 2004

All Science Journal Classification (ASJC) codes

  • Ophthalmology


Dive into the research topics of 'Two patients with severe corneal disease in KID syndrome'. Together they form a unique fingerprint.

Cite this