Neovascular Glaucoma in a Patient with X-linked Juvenile Retinoschisis

Purpose: To report the rubeosis iridis and neovascular glaucoma findings in one patient of X-linked juvenile retinoschisis (XLRS).Methods: Color fundus photography, fluorescein angiography (FFA), OCT and B-scan were performed in a patient with X-linked juvenile retinoschisis complicated with neovascular glaucoma.Result: Color fundus photography, fluorescein angiography (FFA), OCT and B-scan unveiled a rare condition of XLRS complicated with neovascular glaucoma.Conclusion: XLRS may complicate with neovascular glaucoma. It is necessary to test OCT, FFA, ERG and carefully examine the fundus of the follow eye when it comes to uncertain neovascular glaucoma of youth and child. And only in this way, can we exclude XLRS.

Clinical observations of vitreoretinal surgery for four different phenotypes of X-linked congenital retinoschisis

AIM： To evaluate the outcomes of vitreoretinal surgery for four different phenotypes of X-linked retinoschisis （XLRS）. METHODS： This study included thirty-one eyes of 25 patients who developed XLRS with severe complications. Among the 31 eyes, there were 7 eyes with vitreous hemorrhage, 8 eyes with retinal detachment and vitreous hemorrhage, and 16 eyes with rhegmatogenous retinal detachment. All of the patients underwent standard three-port pars plana vitrectomy. All of the eyes were divided into 4 groups before surgery according to a modified classification scheme, with the first three groups as follows： group A, with foveal cystic schisis; group B with macular lamellar schisis; and group C with foveolamellar changes. Peripheral schisis was not present in these 3 groups; however, group D was a complex group with both macular and peripheral changes. One year after surgery, we analyzed the best corrected visual acuity and postoperative anatomical and functional outcomes of these 4 groups. RESULTS： There were 7 eyes in group A （22.6%）, 1 eye in group B （3.2%）, 15 eyes in group C （48.4%） and 8 eyes in group D （25.8%）. Postoperative anatomical and functional outcomes were satisfactory at the last visit, while the mean visual acuity was increased to 0.27±0.11, with a significant difference （t=-1.049, P=0.000） compared with the results before surgery （0.1±0.08）. Visual acuity was improved in 23 eyes （74.2%）. Complications were found in three eyes： two eyes with proliferative vitreoretinopathy and traction retinal detachment 10 and 12mo after surgery, respectively; and one eye with vitreous hemorrhage 15mo after surgery. These eyes were in groups C and D. The retinas remained attached in these 3 eyes after reoperation. CONCLUSION： We should pay greater attention to XLRS with foveolamellar changes because it is the most changeable phenotype. Once complications occur, vitreoretinal surgery can significantly improve visual acuity and restore the anatomic structure of the retina.

R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma

AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis(XLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. ·RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes,involving the macula and combined with foveal cystic change,reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure(IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W(c.304C】T) mutations in the affected male,and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism(c.576C】CT). ·CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.

先天性视网膜劈裂症基因突变型与临床表现型的关系

背景研究表明，导致先天性视网膜劈裂症（XLRS）的原因是RS1基因突变，XLRS的不同临床表现型与不同的基因突变类型有关，但基因型与表现型的关系仍不十分清楚。目的研究12个中国人XLRS家系及检测到的11种XLRS!基因突变与临床表现型的关系。方法对12个XLRS家系的28例男性患者（其余3例已死亡）及女性携带者和正常对照者分别进行详细的眼科检查，包括视力、屈光度、裂隙灯及眼底检查，部分患者行全视野视网膜电图（ERG）、眼底血管造影、光学相干断层扫描（OCT）及A／B型超声检查。采用聚合酶链反应（PCR）和单链构象多态性（SSCP）分析，对XLRSl基因突变进行筛查，并对发现异常泳带的PCR产物进行DNA测序，以明确突变位点及突变类型。结果12个家系的28例男性患者中27例有典型的黄斑及视网膜劈裂表现，ERG检查可见b波振幅下降，b／a波比值倒置。12个家系中检出11种不同的XLRSl致病基因突变，其中有4种新发现的基因突变，即：位于外显子1的移码突变（L9CfsX20）；位于外显子5的Aspl45His，Argl56Gly和Trp163X突变，并新发现1种非疾病相关多态性（NSP），即位于外显子6的576C—T（Pr0192Pro）改变。同时发现位于外显子1的移码突变（22de／T），外显子1与内含子1剪接位点突变（IVS1＋2TtoC）和Argl02Gln，Arg209His，Arg213Gln突变家系的患者，临床表现为严重型XLRS。结论XLRS1基因突变是导致中国人先天性视网膜劈裂的原因，XLRS的严重临床表现与基因突变的类型及突变位点具有一定的相关性。

X连锁遗传性视网膜劈裂症的分子遗传学与治疗研究进展

X连锁遗传性视网膜劈裂症（XLRS，OMIM#312700）是一种较少见的X连锁隐性遗传病，主要累及双侧视网膜，造成神经纤维层和神经节细胞层之间的劈裂，患者具有典型的车轮状中心凹劈裂和视网膜电图b／a比值下降的特征性电生理改变，是由于XLRS1基因发生突变而导致的一种遗传性眼底疾病。就XLRS的发病机制、动物实验和临床治疗的研究进展进行综述。

先天性视网膜劈裂症基因突变的分析

目的 研究先天性视网膜劈裂症 (XL RS)家系的 XL RS1基因突变情况及其发病机制 ,为建立基因诊断的方法提供理论依据。 方法 采用聚合酶链反应 (PCR)和 DNA直接测序方法对两个家系的XL RS1基因编码区进行突变的筛选及检测。 结果 在家系 1中发现 Pro193Ser突变。 结论 在 XL RS家系中发现 XL RS1基因突变。本研究结果可直接应用于 XL RS的遗传咨询和产前基因诊断。

先天性视网膜劈裂症基因突变分析

目的 阐明先天性视网膜劈裂症 (X- linked juvenile retinoschisis,RS or XL RS)的发病机理 ,为建立基因诊断的方法提供理论依据。方法 采用聚合酶链反应 -单链构象多态性分析 ,对 6个独立 XL RS病例进行了 XL RS1基因突变筛选 ,并对发现的异常泳动带进行 DNA测序 ,以明确突变位点 ;对发现的缺失突变进行 Southern印迹证实。结果 在 5个病例中发现基因突变。在家系 1中发现缺失突变 ,家系中的4个患者均缺失了 1、2和 3外显子。在外显子 4上检出 3种异常泳动带 ,分别为 3种突变 :Glu72 L ys、Glu72 Gln、Gly70 Ser。结论 XL RS1基因突变是导致中国人患 RS的主要原因。本研究结果可直接应用于RS的遗传咨询和产前基因诊断。

两个X连锁视网膜劈裂症家系的基因突变检测与产前诊断

目的对两个视网膜劈裂症家系进行RS1基因突变的检测，分析基因突变的类型，为研究其发病机制和探索有效的治疗手段提供依据。方法采用聚合酶链反应和直接测序方法对两个家系的RSl基因进行突变筛查，确定突变的类型。结果两个家系中共发现两种不同的突变类型。家系1中的突变为C．573delG（p．Pr0192fs）；家系2中的突变为C．626G〉A（P．Arg209His）。在71名家系成员中总共检测出16例携带者。家系2中1例女性携带者胎儿产前诊断结果为阴性。结论两个家系的视网膜劈裂症均由RS1基因突变所致，其中P．Pr0192fs是在中国人中发现的新突变。上述发现可直接用于对家系成员的遗传咨询和产前诊断。

OCTFFA超声及ERG在先天性视网膜劈裂症诊断中价值

目的探讨光学相干断层扫描（OCT）、荧光素眼底血管造影（FFA）、超声及及视网膜电流图（ERG）在先天性视网膜劈裂症（XLRS）中的诊断价值。方法对6例（12只眼）的OCT、FFA、超声及ERG的检查结果进行回顾性分析，其中5例（10只眼）行FFA及ERG检查，6例（12只眼）行超声及黄斑区OCT检查。结果XLRS患者12只眼均发生黄斑区视网膜劈裂，B型超声表现为视盘颞侧即黄斑区球壁未见明显异常或稍增厚，A型超声表现为与基波基本垂直的窄高波峰；ERG表现为a波振幅正常或轻度下降，b波振幅明显下降或消失，呈负波形ERG，b／a变小；OCT表现为黄斑中心凹形态消失，视网膜神经上皮层增厚，层间可见多条柱状组织将其分成多个囊样暗区；FFA表现为黄斑区斑驳状高荧光；2例3只眼（25％）合并周边部视网膜劈裂，B型超声表现为玻璃体内细且较光滑的强回声光带与球壁相连，与球后壁间为无回声暗区；FFA表现为伴有颞侧、颞下方及下方视网膜稍隆起，其上血管稍迂曲，视网膜下斑驳状高荧光。结论超声、ERG、OCT及FFA等检查在XLRS诊断中具有重要的临床应用价值，对于视力低下尤其是矫正视力未见提高的患者，应散瞳进行全面、详细的眼底检查，结合其影像学及电生理的特点明确诊断，以减少漏诊、误诊。