特发性先天性眼球震颤(idiopathic congenital nystagmus，ICN)是一种常见的眼科疾病，患者常有明显的特征性的眼部异常，多伴有学习、社交障碍，对其身心健康影响较大。ICN遗传倾向明显，多表现为X染色体连锁(显性或隐性)，目前研究发现以FRMD7基因突变致病较为显著。近10余年来，国内外学者们在遗传学方面针对ICN和FRMD7基因做了大量的研究工作，取得了令人瞩目的结果。本文就2006年以来研究者们在FRMD7基因所致X连锁ICN的突变类型及位点作一总结，归纳并探讨FRMD7突变可能的致病机制，旨在为学者们提供以往研究结果的查证和未来研究方向的参考。

Idiopathic congenital nystagmus (ICN) is a common ophthalmic disease in which patients often have obvious and characteristic eye abnormalities. ICN patients are often accompanied by learning and social disorders, have a great impact on their physical and mental health. ICN which has an obvious genetic tendency and is mostly manifested as X chromosome linkage (dominant or recessive). Current studies have found that the mutation of FRMD7 gene is the most significant pathogenic factor. In the past 10 years, researchers have done a lot of work on the genetics of ICN and FRMD7 gene, and achieved remarkable results. This review summarizes the typ mutations caused by FRMD7 gene since 2006, and also discusses the possible pathogenesis of FRMD7 mutations, aiming to provide references for scholars to verify previous research results and future research directions.

临床上儿童外眦部肿物合并眼睑畸形及结膜肿物少见，需在切除眼睑、结膜肿物的同时，灵活处置眼睑整复。本文回顾2例就诊于北京儿童医院的先天性外眦肿物合并眼睑缺损的病例。术后病理示皮赘伴结膜皮样脂肪瘤。患儿眼睑肿物切除彻底，眼睑整复后外观满意。

Lateral canthus mass with eyelid deformity and conjunctival mass is rare in children. The eyelid reduction should be handled flexibly while the mass is removed. Two cases of congenital lateral canthus with eyelid coloboma were reviewed in Beijing Children’s Hospital. Postoperative pathology showed fibroepithelial polyp and conjunctival dermolipoma. The eyelid masses of the child were completely excised, and the appearance was satisfactory after eyelid reduction.

目的：探讨先天性鼻泪管阻塞的临床治疗效果。方法：选取在咸阳彩虹医院接受治疗并有随诊记录的先天性鼻泪管阻塞患儿共630例(827眼)。根据年龄大小，采用4种方式统计治疗效果。结果：年龄0~2个月患儿230例(286眼)，选取泪囊按摩和局部点抗炎眼水治疗，182眼(63.63%)治愈；2~6个月患儿240例(340眼)，选取加压冲洗或泪道探通术治疗，338眼(96.74%)治愈；6~12个月患儿150例(188眼)，选取泪道冲洗+泪道探通术治疗，188眼(89.74%)治愈；1岁以上患儿10例(13眼)，选取泪道探通术加局部抗炎治疗，10眼(76.92%)治愈。结论：2~6个月是先天性鼻泪管阻塞治疗的最佳时间，泪道冲洗加探通技术在治疗婴幼儿先天性鼻泪管阻塞创伤小，疗效肯定，远期复发率低。

Objective: To discuss the therapeutic effects of congenital nasolacrimal duct obstruction. Methods: A total of 630 children (827 eyes) with congenital nasolacrimal duct obstruction who were treated in Xianyang Rainbow Hospital and had follow-up records were selected. According to the age, the therapeutic effects were carried out in four ways. Results: A total of 230 cases (286 eyes) aged 0–2 months were treated by massaging lacrimal sac withantiinflammatory eye water, 182 eyes (63.63%) were healed; 240 cases (340 eyes) aged 2–6 months were treated by pressor clysis and lacrimal passages probing, and among them 338 eyes (96.74%) were healed. 150 cases (188 eyes) aged 6–12 months were treated with lacrimal passage irrigation and lacrimal passage probing. 188 eyes (89.74%) were cured; 10 cases (13 eyes) aged over 1 year old were tread by probing of the lacrimal passages with anti-inflammatory eye water, 10 eyes (76.92%) were healed. Conclusion: 2 to 6 months is the best time for the treatment of congenital nasolacrimal duct obstruction, the therapy of pressor clysis with lacrimal passages probing chosen according to the age can treat the congenital nasolacrimal duct obstruction efficiently and decrease the long-term recurrence

目的：分析临床应用镜下改良眼轮匝肌手术治疗儿童先天性下睑内翻的效果。方法：回顾性分析安康市中医医院2年期间，应用镜下改良眼轮匝肌手术治疗61例(112眼)儿童先天性下睑内翻，根据睑内翻程度决定缝线跨度、松紧度及去除肌皮瓣量，0/6缝线将睑缘下眼轮匝肌与下睑缩肌缝合，0/8缝线连续缝合皮肤伤口，并做好术后护理。结果：所有患儿随访6~24个月，刺激症状缓解，106眼治愈，2眼好转，4眼复发，总有效率达96.43%。结论：镜下改良眼轮匝肌手术治疗儿童先天性下睑内翻美观、易操作、复发率低。

Objective: To analyze the clinical efficacy of modified orbicularis oculi surgery under microscope in the treatment of congenital lower eyelid entropion of children. Methods: Sixty-one cases (112 eyes) of children with congenital lower eyelid entropion treated by modified orbicularis oculi surgery in Ankang Hospital of Traditional Chinese Medicine from Aug 2020 to Sep 2022 were retrospectively analyzed. The suture span, tightness and the amount of myocutaneous flap removed were determined according to the degree of entropion. The orbicularis oculi muscle of lower eyelid margin was suturedwith 0/6 suture, and the skin wound was sutured continuously with 0/8 suture, and postoperative nursing was done well. Results: All children were followed up for 6–24 months, and the irritation symptoms were relieved, 106 eyes were cured, 2 eyes turned well, and 4 eyes relapsed. The total effective ratereached 96.43%. Conclusion: The modified orbicularis oculi surgery for treatment of children with congenital lower eyelid entropion conforms to visual aesthetics. In addition, it is easy to operate and have a low recurrence rate.

目的： 探讨儿童双目视力筛查仪在先天性白内障中的应用。 方法： 本文为回顾性分析，选择 2017 年 7 月 至 2018 年 5 月在厦门市儿童医院眼科的 3 个月至 2 岁婴幼儿 336 例(672眼)，均由2个固定的医生分别采用小瞳孔红光反射及儿童双目视力筛查仪检查，同时详细记录病史资料。所有患儿均给予裂隙灯检查、复方托品卡胺散瞳后行眼底检查，对眼底无法窥入的者必要时给予眼部B超检查或眼部MRI检查，以排除眼底病变。结果：依据2009年出版的第5版《Harley’s小儿眼科学》的先天性白内障临床分类方法，本组病例中先天性白内障的类型依次为皮质(核)白内障2 7例(35眼)，其中胚胎核2例( 4眼)，板层2 3例(29眼)，核性2例( 2眼)；囊膜性白内障1 9例(28眼)，缝合性白内障2例( 4眼)，极性白内障3例( 6眼)，全白内障2例( 3眼)。儿童双目视力筛查仪筛查出先天性白内障的灵敏度为81.58%，特异度为79.87%，诊断符合率为80.06%；红光反射筛查的先天性白内障的灵敏度为51.32%，特异度为69.97%，诊断符合率为67.86%；两组结果比较均有统计学意义。儿童双目视力筛查仪对皮质(核)性白内障筛查率为97.14%，而红光反射的筛查率为37.14%，结果比较具有统计学意义。结论：儿童双目视力筛查仪在先天性白内障筛查中，具有低漏诊率和误诊率，较高的诊断一致性的优势，尤其对皮质(核)性白内障有高的检出率，将有利于在日常儿童眼保健的辅助筛查工作中，及早发现先天性白内障患儿。

Objective: To explore the application of children’s binocular vision screening instrument in screening congenital cataract. Methods: This was a retrospective analysis of 336 infants aged 3 months to 2 years (672 eyes) who were admitted to the Ophthalmology Department of Xiamen Children's Hospital from July 2017 to May 2018. They were examined by two fixed doctors with the pupil red light reflex and binocular vision screening instrument, and the medical history was recorded in details. All the children received slit lamp examination, compound tropicamide mydriasis and fundus examination. If necessary, the children who could not see fundus were given with B-ultrasonic examination or MRI examination. Results: According to the clinical classification of congenital cataracts published in the 5th edition of Harley’s pediatric ophthalmology in 2009, In this group, there were 27 cases (35 eyes) of congenital cataract, including 2 cases (4 eyes) of embryonic nucleus, 23 cases (29 eyes) of lamellar layer, 2 cases (2 eyes) of nuclear cataract, 19 cases (28 eyes) of capsular cataract, 2 cases (4 eyes) of suture cataract, 3 cases (6 eyes) of polar cataract and 2 cases (3 eyes) of total cataract. The sensitivity of children’s binocular vision screening instrument screening congenital cataract was 81.58%, the specificity was 79.87%, and the diagnostic coincidence rate was 80.06%; the sensitivity of red reflection screening congenital cataract was 51.32%, the specificity was 69.97%, and the diagnostic coincidence rate was 67.86%; the results of the two groups were statistically significant. The screening rate of children's binocular vision screening instrument for cortical (nuclear) cataract was 97.14%, while that of red reflex was 37.14%. The results were statistically significant. Conclusion: In the screening of congenital cataract, the binocular vision screening instrument for children has the advantages of low missed diagnosis rate, high misdiagnosis rate and high diagnostic consistency, especially for cortical (nuclear) cataract. It is helpful to find the congenital cataract early in the auxiliary screening of children’cares eye health