Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Cornea. 2023 Sep 1;42(9):1172-1175. doi: 10.1097/ICO.0000000000003295. Epub 2023 Jun 21.
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder. We present ocular findings and their treatment in patients with EEC.
We report on 3 female patients (aged 59, 45, and 11 years) suffering from EEC with varying extraocular and ocular severity of phenotypic expression of the disease. Slit-lamp biomicroscopy, visual acuity, and medical treatment were evaluated over 4 months to 4 years. All patients experienced visual impairment and foreign body sensation. Examination revealed bilateral chronic blepharitis, dry eye syndrome, and corneal vascularization and clouding due to limbal stem cell deficiency (LSCD). Patient #1 presented a corneal ulcer with severe stromal thinning on the right eye. Allogeneic simple limbal epithelial transplantation (allo SLET), penetrating keratoplasty combined with allo SLET, and in total 5 amniotic membrane transplantation were performed to preserve the integrity of the eye. In patients #2 and #3, conservative therapy with lubricant eye drops, topical steroids, and antibiotics was sufficient to stabilize LSCD. In all cases, corneal epithelialization and improvement of visual acuity were achieved.
To the best of our knowledge, this is the first report of surgical treatment in a patient with EEC. Allo SLET may be a surgical option to treat LSCD associated with EEC.
先天性外胚层发育不良-并指（趾）畸形-唇腭裂（EEC）综合征是一种罕见的遗传疾病。我们介绍了 EEC 患者的眼部表现及其治疗方法。
我们报告了 3 名女性患者（年龄分别为 59 岁、45 岁和 11 岁）患有 EEC，其疾病表型的眼外和眼部严重程度不同。在 4 个月至 4 年内，对裂隙灯生物显微镜、视力和药物治疗进行了评估。所有患者均有视力障碍和异物感。检查发现双侧慢性睑缘炎、干眼症和角膜血管化及因角膜缘干细胞缺乏（LSCD）导致的混浊。患者 #1 右眼出现角膜溃疡，基质严重变薄。进行了同种异体单纯性角膜缘上皮移植（allo SLET）、穿透性角膜移植联合 allo SLET，以及总共 5 次羊膜移植，以保持眼球完整性。在患者 #2 和 #3 中，使用润滑剂滴眼剂、局部皮质类固醇和抗生素进行保守治疗足以稳定 LSCD。在所有情况下，均实现了角膜上皮化和视力提高。
据我们所知，这是首例 EEC 患者手术治疗的报告。allo SLET 可能是治疗与 EEC 相关的 LSCD 的一种手术选择。
