Abstract：
To describe the anterior segment (AS) findings in patients with microphthalmia with linear skin defects syndrome (MLS), also known as microphthalmia, dermal aplasia, and sclerocornea (MIDAS). A retrospective chart review was conducted to identify patients with a diagnosis of MLS syndrome seen at UPMC Children\'s Hospital of Pittsburgh. Ophthalmic examination, high-frequency ultrasound, AS optical coherence tomography, and molecular testing were reviewed. Five female patients (10 eyes) were identified. One eye was anophthalmic, one was in a status post penetrating keratoplasty, and eight eyes presented with congenital corneal opacity (CCO). Of these, one showed a normal lens and a very small faint CCO; five showed congenital aphakia and characteristic silvery appearance of the cornea with vascularization; and two showed irido-corneal adhesions in association with normal or abnormal lens and localized avascular CCO. Genetic testing was performed and revealed involvement of HCCS in four patients. In MLS patients, kerato-irido-lenticular dysgenesis can be associated with secondary CCO. It is important to distinguish these CCO from sclerocornea, in order to refine the appropriate management and counseling the parents about the prognosis.
摘要：
描述伴有线性皮肤缺损综合征（MLS）的小眼症患者的眼前节（AS）表现，也被称为小眼症，真皮发育不全,和硬化角膜（MIDAS）。进行回顾性图表审查，以确定在匹兹堡UPMC儿童医院看到的诊断为MLS综合征的患者。眼科检查,高频超声,作为光学相干层析成像，并对分子检测进行了综述。确定了5名女性患者(10只眼)。一只眼睛是无眼的，一个是穿透性角膜移植术后的状态，8只眼表现为先天性角膜混浊(CCO)。其中,1例显示正常晶状体和非常小的微弱CCO;5例显示先天性无晶状体眼和特征性角膜银色外观并伴有血管形成;2例显示虹膜角膜粘连与正常或异常晶状体和局部无血管CCO相关.进行了基因检测，发现四名患者涉及HCCS。在MLS患者中，角蛋白-虹膜-透镜状发育不全可能与继发性CCO有关。区分这些CCO和硬化角膜是很重要的,为了完善适当的管理和咨询父母的预后。
