UNASSIGNED: Four patients, aged 19 to 46, with keratitis-ichthyosis-deafness syndrome from across the UK were recruited for a general and ocular examination and GJB2 (Cx26) mutational analysis. The ocular examination included best-corrected visual acuity, slit-lamp bio-microscopy, and ocular surface assessment. Mutational analysis of the coding region of GJB2 (Cx26) was performed by bidirectional Sanger sequencing.
UNASSIGNED: All four individuals had the characteristic systemic features of keratitis-ichthyosis-deafness syndrome. Each patient was found to have a missense mutation, resulting in the substitution of aspartic acid with asparagine at codon 50 (p.D50N). Main ophthalmic features were vascularizing keratopathy, ocular surface disease, hyperkeratotic lid lesions, recurrent epithelial defects, and corneal stromal scarring. One patient had multiple surgical procedures, including superficial keratectomies and lamellar keratoplasty, which failed to prevent severe visual loss. In contrast, oral therapy with ketoconazole stabilized the corneal and skin disease in two other patients with keratitis-ichthyosis-deafness syndrome. The patient who underwent intracorneal bevacizumab injection showed a marked reduction in corneal vascularization following a single application.
UNASSIGNED: Keratitis-ichthyosis-deafness syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularizing keratopathy. Oral ketoconazole therapy may offer benefit in stabilizing the corneal and skin disease.
■四个病人,我们招募了来自英国各地19~46岁的角膜炎-鱼鳞病-耳聋综合征患者进行一般和眼部检查以及GJB2(Cx26)突变分析.眼部检查包括最佳矫正视力,裂隙灯生物显微镜,和眼表评估。通过双向Sanger测序进行GJB2(Cx26)编码区的突变分析。
■所有四个个体均具有角膜炎-鱼鳞病-耳聋综合征的特征性全身特征。每个病人都被发现有错义突变,导致天冬氨酸在密码子50处被天冬酰胺取代(第D50N)。主要眼科特征是血管化角膜病变,眼表疾病,过度角化眼睑病变,复发性上皮缺损,和角膜基质疤痕。一名患者接受了多次手术,包括浅表角膜切除术和板层角膜移植术,未能防止严重的视力丧失。相比之下,酮康唑口服治疗稳定了另外两名角膜炎-鱼鳞病-耳聋综合征患者的角膜和皮肤病。接受角膜内注射贝伐单抗的患者在单次应用后显示角膜血管形成明显减少。
■角膜炎-鱼鳞病-耳聋综合征是一种由GJB2(Cx26)杂合突变引起的罕见外胚层发育不良,进行性血管化角膜病变。口服酮康唑治疗可能有助于稳定角膜和皮肤病。