先天性静止性夜盲家系的全视野暗视ERG分析

对一个AD遗传型CSNB家系的11名患者22眼检测、分析了全视野暗视ERG。结果所有患眼的暗视ERG均有异常，并发现三种明显不同的类型，即以a波正常b波降低甚至出现负电反应为特征的Schubert-Bornschein型，以a波、b波振幅均下降为特征的Riggs型和以暗视白光和蓝光刺激下均无波为特征的无波型，认为不同类型的ERG反应并不表示不同的遗传 本质，只代表CSNB基因的不同表现度。指出全视野暗视ERG检查对于CSNB的临床诊断、分型及与其它视网膜病的鉴别诊断均有重要价值。     

显性遗传先天性静止性夜盲全视野明视ERG的分析

对同一家系11名显性遗传CSNB 患者进行全视野明视ERG 分析,发现8名患者出现异常,表现为:1.明视白光刺激的b 波峰时延长或振幅降低;2.白光刺激出现负电反应;3.对闪烁光刺激的反应振幅降低甚至无波。认为CSNB 的主要病损在视网膜杆体系统,但锥体系统也受到不同程度的损害。提出根据电生理和心理物理检查可将本病分为仅累及杆体系统的单纯型和杆体、锥体均受到损害的混合型。临床上这两种不同的亚型是CSNB 基因不同表现度的反映。     

视网膜色素变性和先天性静止性夜盲的mERG检查

目的　比较视网膜色素变性 (RP)和先天性静止性夜盲 (CSNB)的多焦视网膜电图 (mERG)特征。方法　对 8例RP患者 14眼和CSNB患者 14眼进行mERG、传统ERG和视野检查。检测分别采用德国罗兰公司的RETI Scangamma型视觉电生理测试系统、日本光电株式会社的Neuropack Ⅱ视电生理仪和Topcon公司的SBP 2 0 2 0型全自动视野计进行。检查结果与 14只正常眼进行比较。MERG选择一级反应 ,分析 6个环的平均b波振幅 (平均反应密度 )和a、b波平均潜伏值一级视网膜后极部 3 0°范围的振幅和及潜伏值和。结果　RP组 1～ 6环各环的平均振幅与正常组比较明显下降 (P=0 0 0 11～ 0 0 0 0 1) ,而在CSNB组可见 1～ 2环b波振幅的轻度下降 ,但无统计学差异 (P =0 12 89,0 0 5 43 ) ,3～ 6环各环的b波振幅明显下降 (P =0 0 0 61,0 0 0 0 2 ,0 0 0 3 6)。两个患病组的各环a、b波平均潜伏值明显延长 (P =0 0 0 2 7～0 0 0 0 1) ,但较CSNB组的振幅反应异常程度严重 ,后极部 3 0°范围b波潜伏值和及各环a、b波潜伏值的延长在RP和CSNB组均明显延长。结论　MERG在RP和CSNB的诊断中具有不同的意义。RP的mERG特征主要以振幅介导的参数异常为主 ,而CSNB则主要以潜伏值介导的反应异常更为重要     

先天性静止性夜盲家系视紫红质基因的体外扩增分析

先天性静止性夜盲（CSNB）的主要临床特征表现为视网膜杆体功能的损害，而视紫红质是维持正常杆体功能所必需的感光色素。为探讨CSNB的分子缺陷是否涉及到视紫红质基因，本文应用聚合酶链反应（PCR）技术对一个常染色体显性遗传型（AD）CDNB大家系15名患者和5名正常家系成员的视紫红质基因第5外显子片段进行扩增，并结合限制性片段长度多态性（RFLP）作分析。结果显示，与12名正常对照组相比，CSNB患者视紫红质基因第5外显子片段无明显缺失；视紫红质基因端码区内的第314和第347位密码子及第313位密码子的第3个碱基和第348位密码子的第1个碱基均未检出突变或缺失。提示AD型CSNB的分子缺陷未涉及视紫红质基因编码区内这些位点的点突变或缺失。 （中华眼底病杂志，1993，9：66-68）     

先天性静止性夜盲研究进展

先天性静止性夜盲(congenital stationary night blindness,CSNB)是指一组遗传性、非进展性的视网膜疾病,主要以视杆细胞功能异常为特征,导致夜视力受损。其发病机制复杂,至今尚未阐明。目前通过暗适应阈值测量和ERG检查能够对大多数CSNB作出诊断。近年来,随着分子遗传学的发展,在该病的基因研究方面也取得了新的进展。本文对各种类型的CSNB的暗适应阈值测量方法、视觉电生理特征和基因缺陷研究等内容作一综述。     

先天性静止性夜盲

先天性静止性夜盲（CSNB）是一组具有不同遗传方式的视网膜病变,具有特征性的临床和视觉电生理表现。已有5个致病基因被确定。笔者就CSNB的临床、电生理和分子遗传学进行了综述。（中华眼科杂志,2006,42：472-475）     

Multifocal ERG findings in complete type congenital stationary night blindness

PURPOSE. To study the multifocal electroretinogram (mfERG) in patients with the complete type of congenital stationary night blindness (cCSNB), which is thought to be due to a defect in neurotransmission from the photoreceptors to the ON-bipolar cells. METHODS. mfERGs were recorded with the VERIS recording system from four patients with cCSNB, none of whom had nystagmus. The stimulus array consisted of 61 hexagons, and the total recording time was approximately 4 minutes. The amplitudes and implicit times of the first- and second-order kernels of the local responses were compared with those from 20 myopic controls. Waveforms of the summed response from all locations were also compared between the two groups. RESULTS. The first-order kernels of the mfERGs of cCSNB patients had normal amplitudes but delayed implicit times for nearly the whole field tested. The second-order kernel was severely attenuated in amplitude in cCSNB patients. The ratios of the second- to first-order kernel amplitudes were significantly reduced in cCSNB and clearly separated the cCSNB group from the control group without any overlap of the values. CONCLUSIONS. The second-order kernel, which is involved in adaptative mechanism of the retina to repeated flashes, is selectively reduced in cCSNB. The delay of the implicit times of the first-order kernel in patients with cCSNB may be related to the severe amplitude reduction of the second-order kernel.     

Rayleigh match in congenital stationary night blindness

Rayleigh matches performed by 13 patients with Schubert-Bornschein type congenital stationary night blindness with normal color vision, revealed that they use consistently slightly more red light primary in order to achieve a brighter yellow match than a control group with normal color vision and visual acuity. The matching differences between the two groups were statistically significant.     

ERG characteristics of congenital stationary night blindness

The ERGs of 9 cases (18 eyes) of congenital stationary night blindness with normal fundi or myopia were tested. All eyes showed nonrecordable rod ERG and cone ERG with normal a-wave. Scotopic mixed ERGs were of the negative type in 7 eyes and of the subnormal type in 11 eyes. The b/a ratio was reduced in all eyes. The ERG characteristics are useful for the classification, estimation of the probable location of the lesion, and differential diagnosis of the disease.     

Possible pathogenesis of congenital stationary night blindness

We reported a case of congenital stationary night blindness (CSNB) who showed Schubert-Bornschein type electroretinogram (ERG) in the right eye and nearly normal ERG in the left eye with absolute glaucoma. From the electrophysiological findings of both eyes and histological findings of the enucleated eye, we concluded that the mechanism of night blindness in CSNB is an abnormal inhibition in the bipolar cell layer. The experiments in rabbits by vincristine intravenous and intravitreous administrations did not give rise to a negative type ERG, but to a decrease of the amplitude of all ERG components. The lesion of CSNB which was reported to be responsible in the synaptic terminal by Ripps et al could not be confirmed.     

Variable expressivity in X-linked congenital stationary night blindness

X-linked congenital stationary night blindness (CSNB) is a well-documented disorder in which the most striking clinical features are impaired night vision, nystagmus and myopia. Recent reports have highlighted differing features between families, and it has been suggested that these discrepancies may be the result of two loci on the X chromosome or of two mutant alleles. We outline the clinical and visual function findings in 42 affected members from 10 families and 1 adopted person. There was a relative unawareness of the disorder in clinical practice. At least one of the main features of CSNB was absent in 75% of the patients. The visual function values varied widely, both between and within families (visual acuity 20/30 to 20/400, refractive error +1.50 to -22.50 and rod segment elevation 1.5 to 3.0 log units). The findings are consistent with a single allele exhibiting a wide variation in clinical expression.     

Molecular genetic study of congenital stationary night blindness

PURPOSE: Molecular genetic study was conducted on patients with fundus albipunctatus, incomplete and complete types of congenital stationary night blindness(CSNB), and Oguchi disease. RESULTS: Mutations in the RDH5 gene were identified in all 10 patients with typical clinical features of fundus albipunctatus. Mutations in the gene were also detected in patients with fundus albipunctatus associated with cone dystrophy, and it was supposed that mutations of the gene cause progressive retinal dystrophy as well as fundus albipunctatus. Mutations in the CACNA1F gene were identified in all 15 patients with typical clinical features of incomplete CSNB. We found that some cases with incomplete CSNB were associated with retinal degeneration or optic atrophy with progressive impairment of vision. We detected mutations in the NYX gene in about half of the cases with complete CSNB. Molecular examination was useful to determine the exact hereditary pattern. We examined the arrestin gene and the rhodopsin kinase gene in 5 unrelated patients with Oguchi disease, and found arrestin gene mutations in 4 of them and a rhodopsin kinase gene mutation in the fifth patient. CONCLUSIONS: We confirmed that fundus albipunctatus, incomplete CSNB, complete CSNB, and Oguchi disease were associated with mutations in the RDH5, CACNA1F, NYX, arrestin or rhodopsin kinase genes, respectively, in Japanese patients. Molecular analysis made it possible to diagnose patients with atypical phenotype and to obtain novel information about phenotypic variation.     

Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness

Ten patients with the incomplete type of congenital stationary night blindness (CSNB) were examined with a 30 Hz flicker electroretinogram (ERG). After 30 min of dark adaptation, 30 Hz flicker ERG was recorded continuously for 12-15 min under white background illumination. All patients showed an exaggerated increase of amplitude and a universal characteristic change of wave shape as the light adaptation progressed. Thirty normal subjects also showed increased amplitude during light adaptation, but the increase in amplitude was significantly less than in incomplete-type CSNB, and there was little change in wave shape. The same procedure was applied to patients with complete-type CSNB, retinitis pigmentosa, congenital retinoschisis, cone dystrophy, and Oguchi's disease; neither the exaggerated increase of amplitude nor the wave change was seen. Our results indicate that incomplete-type CSNB is a newly identified cone-rod dysfunction syndrome with a special functional property.