Two patients with severe corneal disease in KID syndrome

被引:25
作者
Sonoda, S
Uchino, E
Sonoda, KH
Yotsumoto, S
Uchio, E
Isashiki, Y
Sakamoto, T
机构
[1] Kagoshima Univ, Fac Med, Dept Ophthalmol, Kagoshima 8908520, Japan
[2] Kagoshima Univ, Dept Dermatol, Kagoshima 890, Japan
[3] Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Japan
[4] Yokohama City Univ, Med Ctr, Dept Ophthalmol, Yokohama, Kanagawa 232, Japan
关键词
D O I
10.1016/S0002-9394(03)00739-6
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
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.
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页码:181 / 183
页数:3
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