Two patients with severe corneal disease in KID syndrome

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

研究成果: ジャーナルへの寄稿学術誌査読

26 被引用数 (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.

ジャーナルAmerican journal of ophthalmology
出版ステータス出版済み - 1月 2004

!!!All Science Journal Classification (ASJC) codes

  • 眼科学


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