激光光凝治疗早产儿视网膜病变的疗效分析

目的 观察激光光凝治疗早产儿视网膜病变（ROP）的临床效果。方法 临床确诊为阈值前Ⅰ型和阈值期的ROP患儿64例127只眼纳入研究。其中,阈值前Ⅰ型ROP 15例30只眼,占患眼的23.6%;阈值期ROP 49例97只眼,占患眼的76.4%。所有患儿均于确诊后72 h内在全身麻醉状态下行间接检眼镜引导的532 nm或810 nm激光光凝治疗。阈值前Ⅰ型ROP 15例30只眼中,行532 nm激光光凝治疗6例12只眼,行810 nm激光光凝治疗9例18只眼。阈值期ROP 49例97只眼中,行532 nm激光光凝治疗37例73只眼,行810 nm激光光凝治疗12例24只眼。治疗后随访时间12~36个月,平均随访时间18.4个月。观察患儿病变退化情况。以1次激光光凝治愈率、重复治疗率、不良预后发生率、全身及局部并发症的发生情况为疗效观察指标,对比分析阈值前Ⅰ型与阈值ROP,以及532 nm与810 nm激光光凝治疗的效果差异。结果 127只眼中,附加病变消失、嵴消退、病变完全退化125只眼,占98.4%;颞侧周边部残存膜状牵拉、视网膜血管颞侧牵拉移位2只眼,占1.6%。未出现进展为4期或5期严重不良预后者。经1次激光光凝治疗病变完全退化者118只眼,占92.9%;经2~3次激光光凝治疗病变完全退化者6只眼,占4.7%;因近周边部病变较重,激光光凝反应欠佳,行冷冻治疗者3只眼,占2.4%。64例127只眼中,发生麻醉意外1例,占患儿的1.6%;出现结膜下出血12只眼,占患眼的9.4%;发生白内障1只眼,占患眼的0.8%。经532 nm或810 nm激光光凝治疗阈值前Ⅰ型和阈值期ROP的治疗效果相当,差异无统计学意义（P＞0.05）。但需要重复激光光凝治疗、附加冷冻治疗、出现不良预后及严重并发症者主要出现在阈值期532 nm激光光凝治疗的患儿中。结论 激光光凝可有效治疗阈值前Ⅰ型和阈值期ROP。     

玻璃体视网膜手术治疗先天性视网膜劈裂及其并发症的疗效观察

目的 观察玻璃体视网膜手术治疗先天性视网膜劈裂(XLRS)及其并发视网膜脱离和(或)玻璃体积血的疗效.方法 回顾分析接受玻璃体视网膜手术治疗的XLRS并发视网膜脱离和(或)玻璃体积血患者21例27只眼的临床资料.所有患眼眼底及光相干断层扫描(OCT)检查均发现黄斑微囊样劈裂病变合并周边部视网膜劈裂.平均视力0.11±0.09,黄斑劈裂平均面积为(1.09±0.56) mm2.12只眼并发孔源性视网膜脱离,5只眼并发牵拉性视网膜脱离,6只眼并发玻璃体积血,4只眼同时合并视网膜脱离和玻璃体积血.均行经扁平部三通道闭合式玻璃体切割手术.根据情况行内界膜剥离,眼内激光光凝,C3 F8或硅油填充.手术后随访9～122个月,平均随访时间51个月.观察视力以及视网膜解剖结构改善情况.结果 末次随访视力提高者20只眼,占74.1％;维持不变者7只眼,占25.9％.平均视力提高至0.26±0.15.与治疗前平均视力比较,差异具有统计学意义(t=-6.320,P=0.000).27只眼视网膜解剖结构复位良好,视网膜平伏.OCT检查显示,黄斑劈裂平均面积(0.29±0.21) mm2,较治疗前黄斑劈裂平均面积显著缩小(t=10.358,P=0.000);黄斑微囊样病变得到明显的改善.随访期间4只眼出现并发症,占14.8％.其中,2只眼分别在手术后6、8个月并发增生性玻璃体视网膜病变伴牵拉性视网膜脱离;1只眼在手术后4个月出现并发性白内障;1只眼在手术后15个月因新发视网膜裂孔而发生玻璃体积血.给予再次手术治疗后,4只眼视网膜复位良好.结论 玻璃体视网膜手术能有效提高XLRS患者视力,恢复视网膜解剖结构,获得良好的治疗效果.     

双侧视网膜动脉炎伴多发性瘤样动脉扩张激光光凝治疗疗效观察

双侧视网膜动脉炎伴多发性瘤样动脉扩张(BRAMAD),又称IRVAN综合征,是一少见的眼底病,最初被认为有很好的自限性,但后来的文献报道该病可造成严重的视力下降[1].以往文献中以病例报告较为多见[2-6],成组病例的治疗观察报道不多.我们对一组临床确诊的IRVAN综合征患者采取激光光凝为主的治疗,现将结果报道如下.     

不同分期糖尿病视网膜病变激光光凝疗效观察

目的 观察视网膜激光光凝治疗不同分期糖尿病视网膜病变(DR)患者的疗效.方法 经国际标准视力表检查视力、直接或间接检眼镜眼底检查和荧光素眼底血管造影(FFA)检查确诊的DR患者304例534只眼纳入研究.其中,非增生期(NPDR)组92只眼,平均视力0.52±0.32;增生前期(PPDR)组108只眼,平均视力0.49±0.23;早期增生期(早期PDR)组196只眼,平均视力0.20±0.31;高危增生期(高危PDR)组138只眼.平均视力0.17±0.22.参照ETDRS的规定,采用氩激光对NPDR期行次全视网膜激光光凝、PPDR期和早期PDR期行标准全视网膜激光光凝、高危PDR期行超全视网膜激光光凝.视网膜激光光凝治疗后,每隔3个月采用与治疗前相同的检查设备和方法复查视力、眼底、FFA.新生血管未消退和无灌注区残留补充激光光凝.随访观察10～18个月,平均随访时间11.6个月,以最后一次随访时的观察指标进行疗效评价.以视力提高≥2行为视力提高.视力变化2行以内为视力稳定,视力下降≥2行为视力下降,视力稳定或提高判定为有效.原有视网膜水肿消退,出血渗出吸收,微动脉瘤消失或减少;原有新生血管完全消退或部分减退,无灌注区消失或缩小,无新的新生血管或无灌注区出现判定为视网膜病变激光光凝治疗有效.结果 NPDR组、PPDR组、早期PDR组激光光凝治疗后平均视力分别为0.55士0.28、0.47±0.33、0.16±O.33.视力有效率分别为79.3%、76.9%、74.5%,三组间视力有效率比较,差异无统计学意义(χ2=0.180,0.811,0.209;P>0.05);高危PDR组平均视力为0.13±0.21,视力有效率为63.0%,与NPDR组、PPDR组、早期PDR期组视力有效率比较,差异有统计学意义(χ2=6.182,4.783,4.502;P<0.05).视网膜病变激光光凝治疗有效率NPDR组、PPDR组、早期PDR组分别为89.1%、85.2%、82.7%.三组治疗有效率比较,差异无统计学意义(χ2=0.684,2.030,0.325;P>0.05);高危PDR组治疗有效率为55.1%,与NPDR组、PPDR组、早期PDR组的治疗有效率比较.差异有统计学意义(χ2=28.212,23.999,28.746;P<0.05).结论 不同分期的DR视网膜激光光凝治疗后预后不同,早期、及时而有效的激光光凝治疗是稳定病变,降低致盲率的关键.     

577 nm激光多点与单点扫描模式全视网膜激光光凝治疗非增生期糖尿病视网膜病变疗效比较

目的 比较577 nm激光多点扫描一次完成全视网膜激光光凝(PRP)与单点多次完成PRP治疗非增生期糖尿病视网膜病变(NPDR)的临床效果.方法 前瞻性对照研究.临床确诊为重度NPDR的29例患者46只眼纳入研究.将其随机分为多点扫描组和单点模式组,分别为12例22只眼和17例24只眼.多点扫描组采用多点扫描模式,一次完成RPR.单点模式组采用单点模式,分3～4次完成RPR.治疗前1d及治疗后1d,1、2、6、12个月检测患眼最佳矫正视力,以此评判其治疗有效率;同时观察两组患眼治疗前后30°～60°环形范围内视野平均阈值敏感度,闪光视网膜电流图(F-ERG)a、b波振幅,以及荧光素眼底血管造影(FFA)的变化情况.对比观察两种激光扫描模式PRP的治疗效果以及两组的激光能量、光斑数量,并计算激光能量密度.结果 多点扫描组和单点模式组治疗有效率分别为86.4％、79.2％;两组治疗有效率比较,差异无统计学意义(x2 =0.414,P＞0.05).治疗后1d,多点扫描组和单点模式组30°～60°环形范围内视野平均阈值敏感度及F-ERG a、b波振幅均较治疗前1d降低,差异均有统计学意义(P＜0.05).治疗后2、6、12个月,多点扫描组和单点模式组视野平均阈值敏感度及F-ERG a、b波振幅提高程度比较,差异均无统计学意义(P＞0.05).多点扫描组和单点模式组平均激光能量分别为(537.50±64.69)、(339.09±132.09) mW,平均光斑数分别为(1934.32±426.38)、(2061.42±375.49)点,平均能量密度分别为(0.35±0.12)、(1.95±0.86) mW·ms/μm2.两组激光能量及能量密度比较,差异均有统计学意义(P＜0.05);光斑数量比较,差异无统计学意义(P＞0.05).结论 577 nm激光多点扫描一次完成PRP与单点多次完成PRP治疗重度NPDR的效果相当;但多点扫描模式能量密度低,激光损伤较小.     

局部视网膜激光光凝治疗Coats病的疗效观察

目的:观察局部视网膜激光光凝（局部光凝）治疗Coats病的疗效。方法:回顾性临床研究。2006年1月1日至2020年8月1日于温州医科大学附属眼视光医院检查确诊并接受局部光凝治疗的Coats病患者48例48只眼纳入研究。其中,男性40例40只眼,女性8例8只眼;平均年龄（32.46±22.41）岁。Coats病分期为2...     

先天性视网膜劈裂症

目的探讨先天性视网膜劈裂症的发病机理、临床表现以及分子生物学研究进展。方法回顾和分析1例曾误诊为弱视的先天性视网膜劈裂症患儿的诊治过程和相关检查。结果该例患儿经过专科以及基因检查明确诊断。结论儿童眼科医生应该提高对于该疾病的认识,减少误诊。     

氪红激光光凝治疗视网膜分支静脉阻塞临床疗效分析

目的　分析并比较氪红激光光凝治疗视网膜分支静脉阻塞的临床疗效。方法　 12 4例 12 4眼视网膜分支静脉阻塞患者 ,分别采用氪红 (6 4例 )、氪绿 (6 0例 )激光光凝治疗 ,术后定期观察视力、黄斑水肿及视网膜新生血管情况 ,随访时间 7.1± 3.4月。结果　氪红激光组中 :视力明显提高或提高者 5 3% ,不变者 34% ,下降者 13%(P <0 .0 0 1) ;黄斑水肿完全消退者 38% ,部分消退者 42 % ,不变者 2 0 % (P <0 .0 0 1) ;视网膜新生血管完全消退者6 7% ,部分消退者 33%。氪绿激光组中 :视力明显提高或提高者 6 3% ,不变得 2 3% ,下降者 13% (P <0 .0 0 1) ;黄斑水肿完全消退者 38% ,部分消退者 5 0 % ,不变者 12 % (P <0 .0 0 1) ;视网膜新生血管完全消退者 6 1% ,部分消退者39%。两组间的视力、黄斑水肿及视网膜新生血管变化无显著性差异 (P >0 .1)。结论　氪红、氪绿激光光凝对视网膜分支静脉阻塞都同样有效 ,但氪红激光主要适用于屈光间质混浊的患者。     

先天性视网膜劈裂的RS1基因突变型及其与临床表型相关性研究

目的 观察先天性视网膜劈裂(XLRS)患者的基因突变型及其与临床表型的相关性。方法 33例XLRS患者、26名女性携带者和100名无眼疾的健康正常对照人群纳入研究。33例患者来自8个家系18例;散发病例15例。均为男性,双眼发病。66只眼中,黄斑中心凹微囊样劈裂49只眼,占74.2％;黄斑部层状劈裂43只眼,占65.2％;视网膜周边部劈裂32只眼,占48.5％。视网膜脱离17只眼,占25.8％;合并玻璃体积血9只眼,占13.6％。行视网膜电图(ERG)检查的42只眼均表现为不同程度b波振幅降低。采用聚合酶链反应(PCR)方法,对视网膜劈裂基因（RSl基因）的6个外显子各片段进行扩增后直接DNA测序,明确基因突变位点和突变类型。同时对基因型与临床表型间进行相关性分析。结果 DNA测序发现19种不同的RS1基因突变。其中,新发现6种,分别是p.Gly70Cys、p.Trp112Arg、p.Arg156Trp、p.His207ProfsX56、p.Arg209AlafsX28、p.Cys223Tyr。正常对照人群未检测到基因突变。相关性分析结果显示,基因型与临床表型间无相关性（X2=0.731,3.438,0.820,3.208,1.992; P＞0.05）。结论 RS1基因突变是导致XLRS的主要原因;RS1基因突变型与临床表型间无相关性,不能通过基因型来预测疾病的预后。     

Macular hole in juvenile X-linked retinoschisis

An 18 year-old male with no antecedent of trauma, systemic syndrome or myopia was referred for surgical treatment of a full thickness macular hole in the left eye. A more careful inspection revealed discrete foveal cystic changes in the fellow eye and subtle peripheral depigmented retinal pigment epithelial changes in both eyes. A spectral-domain optical coherence tomography (SD-OCT) scan confirmed, in addition to the full thickness macular hole in the left eye, microcystic spaces in the nuclear layers of both retinae. The diagnosis of X-linked retinoschisis was confirmed with a full field electroretinogram displaying the typical negative ERG. Macular holes are uncommon in the young and those complicating X-linked retinoschisis are rare. This report highlights the importance of investigating the presence of a macular hole in a young patient and illustrates the clinical and SD-OCT clues beyond the foveal center which led to the correct diagnosis of X-linked juvenile retinoschisis.     

先天性视网膜劈裂症一家系基因突变位点分析

目的 对一个先天性视网膜劈裂(XLRS)家系进行基因分析,观察其视网膜劈裂基因（RS1基因）的突变位点。方法 家系研究。一个三代15人的XLRS家系纳入研究。包括先证者在内的9名家系成员行眼科常规检查。6名家系成员同时行眼底彩色照相、光相干断层扫描检查。其中,男性6人10只眼,女性3人6只眼。抽取家系成员中12人的外周静脉血,采用聚合酶链反应方法,对RS1基因的6个外显子各片段进行扩增后直接DNA测序分析,明确基因突变位点。结果 眼底检查者正常4人8只眼,其中男性1人2只眼,女性3人6只眼。均无视力下降主述。检查结果符合XLRS临床诊断者5例10只,均为男性。患眼视力手动～0.5。出现视力下降时年龄均＜10岁。眼底彩色照相检查可见黄斑区放射状囊样劈裂、周边视网膜劈裂;OCT检查可见黄斑区劈裂8只眼,周边视网膜劈裂6只眼。基因检测结果显示,正常者3人,男性。5例临床确诊者RS1基因在外显子4的末位碱基发生错义突变（c.326G＞T）,该突变导致RS1基因编码的视网膜劈裂蛋白第109位氨基酸由甘氨酸变为缬氨酸（p.Gly109Val）。1名3岁儿童具有与5例患者相同的基因突变。眼底检查正常的3名女性为p.Gly109Val突变的杂合子,为致病基因携带者。结论 p.Gly109Val突变为XLRS家系的一个新的突变位点。     

Laser Photocoagulation in Intermediate Uveitis Associated with Retinoschisis

Purpose: To describe cases of pars planitis associated with retinoschisis, in which laser photocoagulation was carried out.

Methods: Retrospective review.

Results: Three pars planitis cases were associated with retinoschisis and underwent laser photocoagulation. All cases were idiopathic. Retinoschisis was located in the inferior retinal quadrants in all cases and all of them were in bullous formation. None of the cases developed retinal detachment.

Conclusion: As well as posterior vitreous detachment, or peripheral retinal tears, retinoschisis may accompany pars planitis. Laser photocoagulation of the pars plana is effective in these cases both as a treatment and to prevent sight-threatening complications like retinal detachment.     

Bullous form of X-linked congenital retinoschisis in infants

Clinical manifestations and course of bullous X-linked congenital retinoschisis were studied in 10 infants aged 6-18 months. Visual function was evaluated by registration of electroretinogram and visual evoked potentials. The patients were followed up for 7.65 +/- 2.51 years. Giant retinal cysts were observed in 40% patients with X-linked retinoschisis aged under 3 years. Collapse (spontaneous or after laser coagulation of the retina) of retinal cysts with formation of demarcation pigmented lines was observed in 85% children. Twenty percent patients developed hemophthalmia which was completely resorbed within 4-12 months. At the age of 6-12 years visual acuity was 0.36 +/- 0.23. The prognosis of the condition is favorable, and therefore surgical treatment or laser coagulation are not recommended in infants with bullous retinoschisis, on condition that no negative changes in the disease course are observed.     

Surgical management of a large retinal cyst in X-linked retinoschisis with internal drainage: Report of an unusual case

Although X-linked retinoschisis is a common retinal degeneration condition, the presence of a large retinal cyst obscuring the visual axis in an infant is a rare presentation. Herein, we describe such a case of a child who presented to us with the diagnosis of retinal detachment in both the eyes. However, following multimodal imaging and electrophysiology, the child was found to have bilateral juvenile retinoschisis with a large retinoschisis cyst involving the visual axis seen intraoperatively in the left eye. A limbal approach followed by lensectomy was used to excise the inner retinal layer of the cyst. The intracystic fluid was then drained and the stretched retinal vessels were endocauterized and severed without causing any iatrogenic outer retinal breaks and retinal detachment. The correct diagnosis and meticulous preoperative planning of the surgical procedure helped us manage this challenging case with a favorable anatomical and functional outcome.     

Long-term 12 year follow-up of X-linked congenital retinoschisis

Purpose: To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood.

Methods: Ten patients clinically diagnosed with XLRS were investigated at 6–15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients underwent regular ophthalmic examination as well as testing of best corrected visual acuity (BCVA), visual field (VF) and assessment of full-field electroretinography (ERG) during their first visit. During the follow-up, the same clinical protocols were repeated. In addition, macular structure and function was examined with multifocal electroretinography (mfERG) and optical coherence tomography (OCT). The patients were 18–25 years of age (mean age 21 years) at the follow-up examination. All exons and exon-intron boundaries of RS1-gene were sequenced for gene mutations in 9 out of the 10 patients.

Results: Best corrected VA and VF were stable during this follow-up period. No significant progression in cone or rod function could be measured by full-field ERG. Multifocal electroretinography and OCT demonstrated a wide heterogeneity of macular changes in retinal structure and function at the time of follow-up visit. Three different mutations were detected in these nine patients, including a known nonsense mutation in exon 3, a novel insertion in exon 5 and an intronic mutation at 5′ splice site of intron 3.

Conclusions: Clinical follow-up (mean 12 years) of ten young XLRS patients (mean age of 9 years) with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period. MfERG and OCT demonstrated a wide variety of macular changes including structure and dysfunction. The XLRS disease was relatively stable during this period of observation and would afford opportunity for therapy studies to judge benefit against baseline and against the fellow eye.     

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation

A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our knowledge, had not been previously reported. An ON-pathway dysfunction explained the abnormalities of the transient but not those of the flicker ERGs. Although in vitro studies showed that the W112C mutant retinoschisin is present only in the cellular fraction and is not secreted, disease expression was remarkably mild, consistent with the notion of the existence of genetic and/or epigenetic disease modifiers.     

视网膜劈裂症的光学相干断层扫描图像特征

目的：探讨视网膜劈裂症的光学相干断层成像(opticcal coherence tomography，OCT)的影像学特征和临床应用。方法：对临床拟诊或诊断不同类型的视网膜劈裂症患者9例12只眼，其中先天性视网膜劈裂者双眼3例，获得性视网膜劈裂者6例(伴有牵牛花综合征2例、老年性黄斑变性2例、中心性浆液性脉络膜视网膜病变1例、先天性视乳头小凹1例)，经散瞳后进行OCT检查。并对病变图像进行分析和测量。结果：视网膜劈裂症患者OCT图像特征：先天性视网膜劈裂症黄斑区病变为强反射信号示神经上皮层增厚，层间多个大小不等的囊肿被垂直或斜形的桥状组织分割，外观有如花瓣状；先天性视网膜劈裂症和获得性视网膜劈裂症累及黄斑周围或其他部位的视网膜病变则可见神经上皮内外层的分离，并有桥状组织粘连，而与色素上皮层连结紧密。此外在获得性视网膜劈裂患者中，除了上述视网膜劈裂表现外，OCT还显示原发病的改变。结论：OCT是一种新型非侵入性的客观定量检查技术。通过OCT对视网膜劈裂症的定量分析，表明它对该病的诊断、鉴别诊断、定量测量和病情监测等方面具有重要的临床应用价值。