PDF(Pubmed)
Abstract：
UNASSIGNED: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss. The most common causes of KID syndrome are heterozygous missense mutations in the GJB2 gene that codes for connexin 26.
UNASSIGNED: During the ophthalmological examination, two adult females complained of recent worsening of visual acuity in both eyes. Anamnesis revealed that their eyes were red and irritated from early childhood onwards. Both of them had thickening and keratinisation of eyelid margins, lash loss, diffuse opacification of cornea and conjunctiva caused by keratinisation of eye surface, superficial and deep corneal vascularisation and corneal oedema. Partial sensorineural hearing loss and difficulties in speech were also noted along with typical ichthyosiform erythroderma. Genetic testing of the GJB2 gene revealed a heterozygous p.D50N mutation in both patients.Patients were treated with a combined topical corticosteroid and artificial tears therapy, with steroid therapy being intensified during the last month. The therapy increased the visual acuity by decreasing corneal oedema and by forming a more regular air-tear interface during the six months follow up. Subsequently, the disease progressed despite the continuation of the therapy.
UNASSIGNED: This is the first report of Serbian patients with KID syndrome. Despite the administration of the combined topical corticosteroid and artificial tears therapy the disease is relentlessly progressive and therapeutic success of ophthalmological signs with local therapeutic modalities used so far had been disappointing.
UNASSIGNED: During the ophthalmological examination, two adult females complained of recent worsening of visual acuity in both eyes. Anamnesis revealed that their eyes were red and irritated from early childhood onwards. Both of them had thickening and keratinisation of eyelid margins, lash loss, diffuse opacification of cornea and conjunctiva caused by keratinisation of eye surface, superficial and deep corneal vascularisation and corneal oedema. Partial sensorineural hearing loss and difficulties in speech were also noted along with typical ichthyosiform erythroderma. Genetic testing of the GJB2 gene revealed a heterozygous p.D50N mutation in both patients.Patients were treated with a combined topical corticosteroid and artificial tears therapy, with steroid therapy being intensified during the last month. The therapy increased the visual acuity by decreasing corneal oedema and by forming a more regular air-tear interface during the six months follow up. Subsequently, the disease progressed despite the continuation of the therapy.
UNASSIGNED: This is the first report of Serbian patients with KID syndrome. Despite the administration of the combined topical corticosteroid and artificial tears therapy the disease is relentlessly progressive and therapeutic success of ophthalmological signs with local therapeutic modalities used so far had been disappointing.
摘要：
未经证实：角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的先天性外胚层发育异常综合征，表现为角膜炎，鱼鳞病和感音神经性听力损失。KID综合征的最常见原因是编码连接蛋白26的GJB2基因中的杂合错义突变。
未经评估：在眼科检查期间，两名成年女性抱怨最近双眼视力恶化。Anamnesis透露，他们的眼睛从童年开始就发红和恼怒。两者都有眼睑边缘增厚和角质化，睫毛损失，眼睛表面角质化引起的角膜和结膜弥漫性混浊，浅层和深层角膜血管化和角膜水肿。还注意到部分感觉神经性听力损失和言语困难以及典型的鱼鳞状红皮病。GJB2基因的遗传检测显示，两名患者均存在杂合的p.D50N突变。患者接受联合外用皮质类固醇和人工泪液治疗，上个月加强了类固醇治疗。该疗法通过减少角膜水肿和在六个月的随访中形成更规则的空气-撕裂界面来提高视力。随后，尽管继续治疗,但疾病仍有进展.
UNASSIGNED：这是塞尔维亚KID综合征患者的第一份报告。尽管联合使用了局部皮质类固醇和人工泪液疗法，但该疾病仍在不断发展，迄今为止使用的局部治疗方式对眼科体征的治疗成功令人失望。
未经评估：在眼科检查期间，两名成年女性抱怨最近双眼视力恶化。Anamnesis透露，他们的眼睛从童年开始就发红和恼怒。两者都有眼睑边缘增厚和角质化，睫毛损失，眼睛表面角质化引起的角膜和结膜弥漫性混浊，浅层和深层角膜血管化和角膜水肿。还注意到部分感觉神经性听力损失和言语困难以及典型的鱼鳞状红皮病。GJB2基因的遗传检测显示，两名患者均存在杂合的p.D50N突变。患者接受联合外用皮质类固醇和人工泪液治疗，上个月加强了类固醇治疗。该疗法通过减少角膜水肿和在六个月的随访中形成更规则的空气-撕裂界面来提高视力。随后，尽管继续治疗,但疾病仍有进展.
UNASSIGNED：这是塞尔维亚KID综合征患者的第一份报告。尽管联合使用了局部皮质类固醇和人工泪液疗法，但该疾病仍在不断发展，迄今为止使用的局部治疗方式对眼科体征的治疗成功令人失望。
