结节性硬化症(tuberous sclerosis complex，TSC)是一种累及多系统的常染色体显性遗传病，早期呈单一表现，容易漏诊、误诊，以眼部症状为首发特征的新生儿期病例少有报道。本文报告1例早产男婴，出生后1 d眼底筛查发现右眼视网膜散在多个灰白色半透明隆起灶及脱色素斑，回溯胎儿期超声心动图异常高度怀疑TSC，进一步行头颅MRI检查及家族基因检测，在新生儿期明确了这一诊断。

Tuberous sclerosis complex is a multisystemic disease with an autosomal dominant inheritance pattern. Missed diagnosis and misdiagnosis are common for patients with single manifestation in the early stage. There are few documented neonatal cases with ocular symptoms as primary presentation. Here we report a newborn boy presented with retinal hamartoma, retinal achromic patch, fetal cardiac rhabdomyoma and subependymal nodules.Subsequent genetic tests confirm a diagnosis of TSC.

目的：观察视网膜激光光凝术(laser photocoagulation，LP)及玻璃体腔注射雷珠单抗(intravitreal ranibizumab，IVR)对病变位于II区的阈值前病变1型早产儿视网膜病变(retinopathy of prematurity，ROP)的疗效。方法：收集2015年10月至2019年12月厦门市儿童医院收治的病变位于II区的阈值前病变1型44例(81眼)。根据手术方式分为LP组、IVR组。观察各组术后病变消退、视网膜血管化情况、全身及眼部并发症，分析不同手术方式的效果。结果：LP组20例(37只眼)行视网膜激光光凝治疗，术后未出现复发，首次治愈率100%；术后(3.42±1.57)周病情控制，术后(9.84±4.75)周可观察到周边视网膜血管化。IVR组24例(44只眼)注射雷珠单抗，39只眼行单次手术后病情控制，首次治愈率88.6%，5眼术后病情未控制。术后(2.95±2.58)周病情控制，术后(14.19±4.95)周可观察到周边视网膜血管化。两组手术方式首次治愈率、视网膜血管化时间差异有统计学意义(P<0.05)。结论：视网膜LP及IVR治疗病变位于II区的阈值前病变1型均有较好疗效，IVR复发率较高，手术方式的选择需慎重。

Objective: To observe the efficacy of laser photocoagulation (LP) and intravitreal ranibizumab (IVR) injection in the treatment of type 1 prethreshold retinopathy of prematurity (ROP) with lesions located in zone II. Methods:Forty-four patients (81 eyes) with type 1 prethreshold retinopathy of prematurity with lesions located in zone II staying in our hospital from October 2015 to December 2019 were collected and divided into LP group and IVR group according to the operation method. Through observation of the postoperative disease involution, retinal vascularization, systemic and ocular complications in each group, the effects of different surgical methods were analyzed. Results: In LP group, 20 patients (37 eyes) underwent retinal laser photocoagulation treatment, with no recurrence occurred after the operation; the cure rate after the first operation was 100%; the disease was controlled at (3.42±1.57) weeks after the operation; and peripheral retinal vascularization was observed at (9.84±4.75) weeks after the operation. In IVR group, 24 patients (44 eyes) were injected with ranibizumab; 39 eyes were under control after a single operation; the cure rate after the first operation was 88.6%; and 5 eyes were not under control after surgery. The disease was controlled for an average of (2.95±2.58) weeks after operation; peripheral retinal vascularization was observed at (14.19±4.95) weeks after operation; there were statistically significant differences in the cure rate after the first operation and retinal vascularization time between the two groups. Conclusion:Retinal laser photocoagulation and IVR have good effects in the treatment of type 1 prethreshold retinopathy of prematurity with lesions located in zone II. However, the recurrence rate using IVR is relatively high. Therefore,the surgical method needs to be cautious and still requires clinical observation.

目的：观察玻璃体腔内注射不同剂量康柏西普治疗早产儿视网膜病变(retinopathy of prematurity，ROP)的疗效以及术后的眼压变化。方法：前瞻性随机对照研究。将2018年1月1日至2021年6月30日在厦门市妇幼保健院确诊为Ι型阈值前期ROP、阈值期ROP、急进性ROP(aggressive ROP，A-ROP)的患儿纳入研究。随机分为减量组和常量组，分别玻璃体腔注射10 mg/mL康柏西普注射液0.015 mL(含康柏西普0.15 mg)和0.025 mL(含康柏西普0.25 mg)。测量并记录注射前5min、注射后5min、30min、1h、12h及24 h的眼压情况。术后1周开始随访眼底情况。疗效评价分为一次治愈、复发和加重。结果：共49例98眼纳入研究，常量组27例54眼，一次治愈成功率79.6%(43/54)，复发率16.7%(9/54)，加重率3.7%(2/54)；减量组2 2例44眼，一次治愈成功率68.2%(30/44)，复发率27.3%(12/44)，加重率4.5%(2/44)；两组间差异无统计学意义(χ 2=1.672，P=0.196)。治疗前5min两组眼压差异无统计学意义(P=0.494)；注药后5 min、1 h、12h两组眼压差异有统计学意义(均P<0.05)；注药后24 h两组间的眼压差异无统计学意义(P=0.101)。常量组注药前5 min和注药后24 h眼压差异有统计学意义(P=0.03)，减量组注药前5 min和注药后24h眼压差异无统计学意义(P=0.84)。结论：减量剂量康柏西普(0.15mg)治疗ROP有效，疗效与常规剂量(0.25 mg)相近，且术后眼压升高幅度较低，更快恢复至术前水平，更安全。

Objective: To evaluate the effectiveness of intravitreal injection of various doses of conbercept in the treatment of retinopathy of prematurity (ROP) and change of intraocular pressure (IOP) after operation. Methods: It was a prospective randomized controlled study. Children who were diagnosed with pre-threshold ROP, threshold phrase ROP, and aggressive ROP (A-ROP) in Xiamen Maternity and Child Healthcare Hospital from January 1, 2018 to June 30, 2021 were included in the study. The children were randomly divided into a reduction group and a constant group, and received intravitreal injection of10 mg/mL conbercept at 0.015 mL (containing 0.15 mg of conbercept) and 0.025 mL (containing 0.25 mg of conbercept) respectively. IOP was measured and recorded 5 min before injection, 5 min, 30 min, 1 h, 12 h and 24 h after injection. The fundus condition was followed up 1 week after the operation. The efficacy evaluation is divided into one cure, recurrence and exacerbation. Results: A total of 98 eyes of 49 cases were included in thestudy. For 27 cases of 54 eyes in the constant group, the one-time cure success rate was 79.6% (43/54), the recurrence rate was 16.7% (9/54), and the exacerbation rate was 3.7% (2/54). In the reduction group, there were 22 cases (44 eyes). The one-time cure success rate was 68.2% (30/44), the recurrence rate was 27.3% (12/44), and the exacerbation rate was 4.5% (2/44). There was no significant difference between the two groups (χ2=1.672,P=0.196). There was no significant difference in IOP between the 2 groups 5 min before treatment (P=0.494). There were statistically significantdifferences in IOP between the 2 groups at 5 min after injection, 1 h after injection, and 12 h after injection (all P<0.05). There was no difference in IOP between the two groups 24 h after injection (P=0.101). There was a statistically significant difference in IOP between 5 min before and 24 h after injection in the constant group (P=0.03), and there was no significant difference in IOP between 5 min before and 24 h after injection in the reduction group (P=0.84). Conclusion: Reduced dose of conbercept (0.15 mg) is effective in the treatment of ROP, and the efficacy is similar to that of conventional dose (0.25 mg). The reduction can help lower the increase of postoperative IOP, returning to the preoperative level more rapidly and safely.

目的：研究早产儿视网膜病变患儿经不同治疗措施后屈光状态的改变。方法：将72例(127眼)早产儿视网膜病变患儿按治疗方式分为3组：激光光凝组、注药(抗血管内皮生长因子药物)组和自然消退组。并于治疗前，治疗后1、4、7、12个月对其进行睫状肌麻痹检影验光，对比分析3组的球镜和等效球镜的差异。结果：在治疗后1、4、7及12个月，三组患儿的球镜度和等效球镜度的差异有统计学意义(P<0.05)：注药组的球镜和等效球镜小于自然退化组及激光组(均P0.05)。治疗后12个月时激光光凝组、注药组和自然消退组近视发生率分别是2.4%、7.8%和2.0%，差异无统计学意义(P=0.356)。结论：经不同治疗措施的ROP患儿近视发生率无明显差异，但经玻璃体腔注射抗VEGF药物的ROP患儿正视化进程更快。

Objective: To observe the changes of refractive statues in infants with retinopathy of prematurity retinopathyof prematurity (ROP) after different treatments. Methods: According to different treatment methods, 72 cases(127 eyes) of infants with ROP were divided into 3 groups: laser photocoagulation group, intravitreal injectionof anti-vascular endothelial growth factor (VEGF) drugs group and natural regression group. Their sphere andspherical equivalent were measured by retinoscopy optometrist after the ciliary muscles paralyzed. The data beforetreatments and 1, 4, 7 and 12 months after treatments were recorded and analyzed. Results: The differences ofsphere and spherical equivalent among three groups were statistically significant: intravitreal injection of VEGFdrugs group was lower than natural regression group and the laser photocoagulation group, but there was no significant difference between natural regression group and laser photocoagulation group. Incidence of myopiaof laser photocoagulation, intravitreal injection of VEGF drugs, natural regression group were 2.4%, 7.8%, 2.0%,which was not statistically significant. Conclusion: There was no significant difference about the incidence rate ofmyopia among the three groups, but the emmetropization in infants with ROP after intravitreal injection of anti-VEGF drugs might be faster in the future.