同一家庭3个姐妹色觉障碍

目的:评价我校医学生和她的家庭成员先天色觉障碍的遗传特征,以建立其遗传模式.方法:运用Ishihara(石原)假同色图试验测定色觉障碍,用FW100色调试验评估其类型.并进行眼科检查和遗传学研究,建立色盲家谱,并对她的家庭给予遗传学咨询.结果:眼科检测结果显示双眼最佳矫正视力为20/20(1.0),近视矫正屈光度-2D,裂隙灯检测和眼压测量结果在正常范围,眼底镜检查视神经、黄斑和周边视网膜均正常,其它外眼评估和神经学检测正常,先证者的姐妹和她父母的眼科检测也正常,3姐妹和父亲的IPPT试验错误得分为19～20/25,结果和红绿色盲中绿色觉异常者一致.染色体分析和卵巢周期均正常.结论:根据她家谱,她的色盲是伴X染色体的隐性外显率模式的遗传特征.     

一种新的计算机适应色觉试验

目的:提出一种新的计算机适应色觉试验(NCACVT)并且解释它在实际应用中的可靠性和重要性.方法:法一孟二式100色度试验(FM100HT)和Holmgren试验已经被改良并且适应计算机应用.经典的Ishihara假同色法试验方法(IPPT)已被假定是色盲的一个简便的筛选检查工具;因此依照Ishihara试验结果,受试者被分为色觉有缺陷组(第1组)和对照组(第2组).第1组为色觉有缺陷者13例(男12例,女1例),年龄在19～29(平均21)岁,而第2组为对照组,13个受试者色觉无缺陷(男8例,女5例),年龄在19～28(平均22)岁.为了研究两组人的色觉敏感性,所有的受试者都要进行FM100HT和NCACVT试验.将经典的IPPT,FM100HT和NCACVT的试验结果用统计学方法进行比较.在这两组中NCACVT和FM100HT的误差计分用秩和检验来分析.结果:在误差计分中的差别分别在统计学上是有显著意义的(U=169,P＜0.05;U=153 P＜0.05).根据NCACVT来诊断色觉缺陷的临界点是通过使用接受机器作特征曲线(ROC)而被发现是23.根据23这个临界点的误差计分,在筛选检查色觉缺陷方面,发现NCACVT具有100%的敏感性和100%的特异性.结论:根据Harper和Reeves,这些特点使得这个试验成为一个可靠的、有创意的眼科实践筛选试验.     

不同类型黄斑裂孔周边视网膜变性的比较

目的 比较高度近视性(＞-6.00 D)黄斑裂孔和外伤性黄斑裂孔的患眼周边视网膜变性区的发生情况.方法 行玻璃体切割术的黄斑裂孔患者106例(106眼),分为两组:A组为高度近视性黄斑裂孔组,68例(68眼);B组为外伤性黄斑裂孔组,38例(38眼).所有患者均进行术前三面镜和玻璃体切割术中对周边视网膜检查,以确认周边视网膜的变性情况.结果 A组中周边视网膜有变性区者52眼,占76.47％;B组中周边视网膜有变性区者8眼,占21.05％.两组周边视网膜变性区的发生率比较,差异有统计学意义(x2=30.48,P=0.000).A组周边视网膜有变性区的52眼中,非压迫变白者42眼,检出率为61.76％;格子样变性44眼,检出率为64.71％;囊样变性19眼,检出率为27.94％;其他类型变性15眼,检出率为22.06％.B组周边视网膜有变性区的8眼中,非压迫变白者6眼,检出率15.79％;格子样变性7眼,检出率18.42％;囊样变性4眼,检出率10.53％;其他类型变性2眼,检出率5.26％.结论 外伤性黄斑裂孔其周边视网膜变性的发生率比高度近视黄斑裂孔明显较少.     

黄斑病变的明视视网膜电图及色觉变异

为了解黄斑病变的明视视网膜电图及色觉变异。应用明视视网膜电图（Ｉ１６红光刺激和Ｉ８白光刺激）和色觉试验（ＰａｎｅｌＤ－１５试验和ＦＭ１００－ｈｕｅ试验）同时检测视网膜前膜病人１２例（１５眼）和老年黄斑变性干性型病人１２例（１７眼）,了解两种检查的异常率并进行两种检查方法的比较。结果：受试患眼明视视网膜电图检查显示明视Ｉ１６红光和明视Ｉ８白光刺激的异常率分别为２４．３２％和１０．８１％,ＰａｎｅｌＤ－１５试验和ＦＭ１００－ｈｕｅ试验的异常率分别５６．７６％和７０．２７％。Ｘ２检验显示明视视网膜电图的异常率和两种色觉试验的异常率有显著性差异。结论：视网膜前膜和老年黄斑变性干性型等轻度黄斑病变可引起明视视网膜电图和色觉的改变,但明视视网膜电图的异常率低于色觉检查的异常     

高度近视眼中心30°视网膜光敏感度的状态分布及其对比研究

目的观察高度近视患者的视网膜中心部视功能状态分布特点-10°～30°视网膜光敏感度,以期建立监测高度近视眼视网膜中心部视功能的方法,为预防性治疗视网膜黄斑病变提供依据.方法采用OCTOPUS 101中的中心低视力程序C08、M2程序,对373眼高度近视患者的视网膜中心视功能状态-10°～30°视网膜平均光敏感度、4象限光敏感度、4象限视野缺失点、平均视野缺失点进行定性定量检测,并分别与高度近视性视网膜脱离对侧眼149眼、中低度近视性视网膜脱离对侧眼51眼、正常108眼进行对比分析.结果 (1)高度近视眼30°平均光敏感度(27.60±6.26)dB,视力0.57±0.39;高度近视视网膜脱离对侧眼(28.51±4.95)dB,视力0.62±0.39;中低度近视视网膜脱离对侧眼(28.45±6.53)dB,视力0.87±0.25;正常对照眼(34.05±2.29)dB,视力1.13±0.28.高度近视组视力仅与高度近视视网膜脱离对侧眼的差异无统计学意义(P>0.05),总平均光敏感度和4象限平均光敏感度在高度近视组与高度近视视网膜脱离对侧眼、中低度近视视网膜脱离对侧眼的差异均无统计学意义(P>0.05).(2)高度近视眼30°视野平均缺失点(1.76±7.16)个,高度近视视网膜脱离对侧眼(0.50±2.58)个,中低度近视视网膜脱离对侧眼(0.88±4.16)个,正常时照眼(0.04±0.38)个.平均视野缺失点分别在高度近视组与高度近视视网膜脱离对侧眼与中低度近视视网膜脱离对侧眼的差异无统计学意义(P>0.05),与正常人眼的差异有统计学意义(JP<0.05).但除鼻上象限与正常人眼的差异有统计学意义外,其余三象限组间差异均无统计学意义.结论高度近视眼已经存在明显中心视网膜光敏感度的损害,但与视网膜脱离高危眼在发生视网膜脱离之前相似,他们与正常人群眼有着明显的功能差异;根据高度近视中心视网膜退行性病变形成机制和与中心视网膜光敏感度下降的关系,对此人群进行系统眼底视网膜结构和功能状态的检测有益于视网膜黄斑病变的临床前症状体征的早期发现.     

陕西省农村人群高度近视性视网膜病变的流行病学调查

目的:调查陕西省农村人群高度近视性视网膜病变的患病率及其相关影响因素。方法:2003-07/12,采用整体随机分层抽样法在陕西省洋县、靖边县及富平县调查8500人,所有受检人员均进行标准问卷调查及详细的眼科检查,包括应用标准对数视力表(logMAR)视力表检查视力、裂隙灯显微镜检查晶状体、散瞳后直接检眼镜检查视网膜,若眼底表现有后巩膜葡萄肿、漆纹样裂纹、Fuchs斑、近视眼性脉络膜视网膜萎缩和近视弧形斑,则诊断为高度近视性视网膜病变。结果:在总调查人群中有6815人完成检查,总受检率为80.2%。在此受检人群中共有88例受检者的152眼可见高度近视性视网膜病变,其中有64例(72.7%)受检者累及双眼。患者年龄范围为15～82(平均57.5)岁。在全部人群中的患病率为1.3%(95%CI,1.0,1.6),≥15岁人群患病率为1.7%(95%CI,1.4,2.1),≥40岁人群患病率为2.8%(95%CI,2.2,3.5),≥50岁人群患病率为3.8%(95%CI,3.0,4.9)。通过Mantel-Haenszel分层分析,显示高度近视性视网膜病变的患病率随年龄的增长而显著增加(P<0.001),女性患病率高于男性(P=0.001,OR:2.32,95%CI,1.43,3.76)。61例(69.3%)高度近视性视网膜病变患者存在程度不同的视力损伤,单眼低视力、双眼低视力、单眼盲、双眼盲所占比例分别为36.4%、21.6%、6.8%和4.5%;在高度近视性视网膜病变的眼中,有84眼(55.3%)存在视力损伤。年龄较小的患者其视力损伤轻于老年人群。15岁以上人群中,70眼(0.7%)可见后巩膜葡萄肿,18眼(0.2%)表现漆纹样裂纹,6眼(0.06%)出现Fuchs斑,22眼(0.2%)存在近视眼性脉络膜视网膜萎缩。通过多因素logistic回归分析,显示在此人群中除屈光度外,年龄、性别、文化程度、高度近视家族史、皮质性及核性白内障对高度近视性视网膜病的患病率也有影响。由于没有应用眼底摄像技术,故我们此次调查可能低估了高度近视性视网膜病变的患病率。结论:陕西省农村人群中(尤其是老年人群中)高度近视性视网膜病变的患病率较高。高度近视性视网膜病变是一种严重的导致视功能损害的疾病,严重影响了该地区农村人群的视力健康,有关相适应的、更为有效的治疗措施的应用及眼部卫生保健服务措施有待于进一步的研究与实施。在此人群中除屈光度外,年龄、性别、文化程度、高度近视家族史、皮质性及核性白内障与高度近视性视网膜病变的发生有着密切的联系。T     

Nage氏色觉检查镜的临床应用：附60例报告

色觉的检查目的,是为了查明先天性色觉异常的性质和分类以供职业选择的指导或后天性色觉异常的疾病研究,尤其对挑选飞行人员及学校招生体检中都有重要意义. 色觉的检查方法,从来是用反射光和分散光两利方法.美制假同色版、苏制拉布金氏、日制石原氏、中制俞氏等色觉检查表即属前者,优点为携带使用方便,     

高度近视的遗传学最新研究进展

高度近视在人群中患病率较高(约1%),是致盲的重要原因之一.高度近视常伴有家族性,且有明显的遗传倾向.此文就目前与高度近视相关的基因定位、候选基因的筛查等分子遗传学研究工作的最新进展加以阐述.     

高度近视遗传学和基因定位研究进展

高度近视在人群中患病率较高(约1%),是致盲的重要原因之一。高度近视有家族性并有明显的遗传倾向。我们就近年来有关高度近视的遗传因素、遗传模式、候选基因的筛查、相关基因定位等分子遗传学研究工作方法和进展加以综述。     

全基因组扫描高度近视一家系

高度近视是指屈光度〉-6．0D的屈光不正,又称恶性近视或病理性近视,伴有眼轴的延长和眼基质的改变,视力呈进行性下降,可伴有弱视、青光眼、白内障、玻璃体混浊、视网膜脱离等多种并发症,是致盲的主要原因之一。高度近视有家族性并有明显的遗传倾向,虽在人群中患病率高,但是多由后天因素引起,加上高度近视具有遗传异质性,给高度近视的分子遗传学研究带来了一定困难。高度近视具有种族特异性,本研究对中国原发性近视眼家系进行分子遗传学研究。     

Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.

PURPOSE: To study a large family with X-linked progressive cone-rod dystrophy. METHODS: There were 128 members in the family. Of these, 45 had an ophthalmological examination and 3 gave their permission to use the results of their recent ophthalmological examination. In addition to the usual eye examination, visual fields, colour vision, dark adaptation and electroretinogram (ERG) were examined. RESULTS: Ten affected men aged 6 to 81 years were found in the family. The visual acuities varied from counting fingers (cf) 10 cm to 0.5 in the right eye (RE) and from cf 30 cm to 0.4 in the left eye (LE). The refraction was myopic in all affected members, varying from -1.5 to -24.0 D (RE) and from -2.0 to -20.25 D (LE). In visual functions, central scotomas and concentric constriction in the visual fields, red or red-green defects in colour vision, abnormal cone and rod dark adaptation and affected cone response in ERG were found. The 6 obligate carriers were aged 17 to 77 years. Their visual acuities varied from 0.05 (strabismic amblyopia) to 1.25(RE) and from 0.7 to 1.25 (LE), and refraction from +/-0 to +6.0 D (RE) and from -0.5 to +5.0 D (LE). Their visual fields and colour vision were normal. The non-affected men were aged 13 to 55 years, their visual acuity was normal in both eyes, and refraction varied from -5.0 to +1.5 D (RE) and from -5.5 to +1.75 (LE). The result of the eye examination was normal except in colour vision: two men were congenitally deuteranomalous. The women who were not obligate carriers were aged 10 to 77 years, their visual acuity was from 0.3 to 1.6 in both eyes, and refraction from -5.5 to +4.75 (RE) and from -5.25 to +4.0 (LE). Two women had one amblyopic eye. Otherwise the eye examination was normal. CONCLUSIONS: The clinical diagnosis of X-linked cone dystrophy 1 (COD1) is based on progressive loss of visual acuity, moderate or high myopia, red colour vision defect and affected cone response or cone and rod response in ERG. The future identification of the COD1 gene will confirm the diagnosis of the disease and help in genetic counseling of the family.     

Normality of colour vision in a compound heterozygous female carrying protan and deutan defects

Background: Inherited red‐green colour vision defects are quite common, affecting one in 12 males, but are less common in women, affecting about one in 250. Because red‐green defects are X‐linked, nearly 15 per cent of females are heterozygous carriers of red‐green colour deficiency. In addition, about one in 150 females are ‘double carriers’, where both of their X chromosomes have L/M gene arrays encoding a red‐green defect. If a woman carries the same type of colour vision defect on each X‐chromosome, she will be red‐green colour deficient, whereas if she carries opposing defects (protan versus deutan) on each X chromosome, she will have normal colour vision, owing to the process of X‐inactivation. These women are referred to as compound heterozygotes, though very few have been reported. Questions remain about whether the colour vision capacity of these women is comparable to that of ‘normal’ trichromats. Methods: We examined a compound heterozygote carrier of both protanopia and deuteranomaly. We also examined male members of her family representing both forms of red‐green defect carried by the female proband. Complete colour vision testing was done, including Rayleigh matches, pseudoisochromatic plates, unique hue measurements and 100‐Hue tests. Flicker‐photometric ERG estimates of L : M cone ratio were obtained, as were Medmont C100 settings. Results: Genetic analyses provided direct confirmation of compound heterozygosity. The compound heterozygote showed Schmidt's sign, consistent with an extreme skew in her L : M cone ratio and usually associated with protan carrier status. Conclusion: Apart from Schmidt's sign, we found the colour vision of the compound heterozygote to be indistinguishable from that of a normal trichromat.     

Electrophysiology findings in a large family with central areolar choroidal dystrophy

Purpose: To perform an electrophysiological study of central areolar choroidal dystrophy (CACD) in the affected members of a four generation family. Methods: Eight affected family members from the last three generations of a family affected by CACD were assessed by full-field electroretinograms (rod response, maximal combined response, oscillatory potentials, single-flash cone response and 30Hz flicker responses) and electro-oculograms. In addition three members of the youngest generation, who were visually asymptomatic, had pattern visual evoked potentials (PVEPs) and pattern electroretinograms (PERGs) performed. Affected status had been determined previously by genetic analysis. Results: Three youngest generation family members, who were considered affected by genetic haplotype analysis, had no visible optic nerve or retinal abnormalities. All of these subjects had abnormal PVEPs and PERGs in both eyes. Abnormalities were also detected in two of these subject's Rod ERGs, Cone ERGs and one of these subject's Maximal ERGs and 30Hz ERGs. Electrophysiological examination in the older generations demonstrated a similar, more advanced, cone and rod dysfunction. Conclusions: All affected, but clinically normal, youngest generation patients had bilaterally abnormal PVEPs and PERGs. In CACD the PVEP and PERG proved to be the most sensitive electrophysiological tests of preclincial macular dysfunction, 3/3 subjects abnormal. ERG recording to ISCEV guidelines were very useful in these cases; 7/8 subjects abnormal. The EOG was less useful; 4/8 subjects abnormal. CACD produces a widespread photoreceptor dysfunction in its later stages. This revised version was published online in July 2006 with corrections to the Cover Date.     

Rapid measurement and machine learning classification of colour vision deficiency

Colour vision deficiencies (CVDs) indicate potential genetic variations and can be important biomarkers of acquired impairment in many neuro-ophthalmic diseases. However, CVDs are typically measured with tests which possess high sensitivity for detecting the presence of a CVD but do not quantify its type or severity. In this study, we introduce Foraging Interactive D-prime (FInD), a novel computer-based, generalisable, rapid, self-administered vision assessment tool and apply it to colour vision testing. This signal detection theory-based adaptive paradigm computed test stimulus intensity from d-prime analysis. Stimuli were chromatic Gaussian blobs in dynamic luminance noise, and participants clicked on cells that contained chromatic blobs (detection) or blob pairs of differing colours (discrimination). Sensitivity and repeatability of FInD colour tasks were compared against the Hardy–Rand–Rittler and the Farnsworth–Munsell 100 hue tests in 19 colour-normal and 18 inherited colour-atypical, age-matched observers. Rayleigh colour match was also completed. Detection and discrimination thresholds were higher for atypical than for typical observers, with selective threshold elevations corresponding to unique CVD types. Classifications of CVD type and severity via unsupervised machine learning confirmed functional subtypes. FInD tasks reliably detect inherited CVDs, and may serve as valuable tools in basic and clinical colour vision science.     

Jan Lovie‐Kitchin

Background: Colour vision deficiency (CVD) has a high prevalence and is often a handicap in everyday life. Those who have CVD will be better able to adapt and make more informed career choices, if they know about their deficiency. The fact that from 20 to 30 per cent of adults with abnormal colour vision do not know they have CVD suggests that colour vision is not tested as often as it should be. This may be because of practitioner uncertainty about which tests to use, how to interpret them and the advice that should be given to patients on the basis of the results. The purpose of this paper is to recommend tests for primary care assessment of colour vision and provide guidance on the advice that can be given to patients with CVD. Methods: The literature on colour vision tests and the relationship between the results of the tests and performance at practical colour tasks was reviewed. Results: The colour vision tests that are most suitable for primary care clinical practice are the Ishihara test, the Richmond HRR 4th edition 2002 test, the Medmont C‐100 test and the Farnsworth D15 test. These tests are quick to administer, give clear results and are easy to interpret. Tables are provided summarising how these tests should be interpreted, the advice that can be given to CVD patients on basis of the test results, and the occupations in which CVD is a handicap. Conclusion: Optometrists should test the colour vision of all new patients with the Ishihara and Richmond HRR (2002) tests. Those shown to have CVD should be assessed with the Medmont C‐100 test and the Farnsworth D15 test and given appropriate advice based on the test results.     

High myopia with cone dysfunction

All 3 children, 2 boys and 1 girl (the probands), in a family had high myopia and subnormal visual acuities. The boys had high myopia in both eyes, the girl had high myopia in 1 eye and low myopia in the other eye. Both of the boys had a protanomalous colour vision defect. The colour vision testing of the high myopic eye of the girl was not successful, the other eye had normal colour vision. In the electroretinogram examination, both cone and rod responses were decreased in 2 of the children. In the family study, results of an eye examination of 30 relatives were available. No other cases of high myopia or subnormal visual acuities were found. The father of the children, 1 of the paternal relatives, and 5 of the maternal relatives had low myopia. One maternal male cousin of the probands had a protanomalous colour vision defect. In the genealogical study, no relationship was found between the families of the father and the mother of the probands going back to the fifth generation. The heredity of this disorder is difficult to define. It could be autosomal dominant or recessive if the myopia only are taken into consideration. If the high myopias and cone dysfunction are considered to be parts of the same syndrome, the heredity could be x-chromosomal recessive or autosomal recessive.     

Silent substitution S-cone electroretinogram in subjects with diabetes mellitus

A defect in the blue sensitive mechanism has been reported in certain ocular and systemic diseases. For example, tritanopic colour vision defects and changes to the S-cone electroretinogram (ERG) have been demonstrated in glaucoma and diabetes mellitus. Electrophysiological methods of eliciting the S-cone ERG, however, often result in considerable L- and M-cone intrusion. We report the findings of a study employing the silent substitution S-cone ERG technique, which is thought to represent an almost pure S-cone signal, and the L'Anthony desaturated D15 colour vision test in subjects with Type 1 or 2 diabetes mellitus with no or minimal background retinopathy. The results of this study show a significantly increased S-cone ERG b-wave implicit time and significantly worse colour vision in those with background retinopathy compared with those with no diabetic retinopathy. This suggests that S-cone pathway dysfunction may be responsible for the deterioration in colour vision found in diabetes mellitus.     

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG"

AIMS: To characterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients. METHODS: 10 affected patients were examined clinically and underwent colour fundus photography, with nine undergoing detailed electrophysiological testing. Five patients were assessed further with fundus autofluorescence (AF) imaging, automated photopic and dark adapted perimetry, and dark adaptometry. Detailed colour vision assessment was performed in six subjects. Blood samples were taken from four patients for DNA extraction and mutation screening of NR2E3 was undertaken. RESULTS: The onset of symptoms was in the first and second decades of life. Subjects presented with reduced central vision and marked photophobia. All individuals were myopic and colour vision testing revealed severely reduced colour discrimination predominantly along the red-green axes; tritan colour vision was relatively well preserved. Nyctalopia is a later feature of the disorder. Funduscopy and AF imaging revealed a range of macular appearances. There was electrophysiological evidence of marked macular dysfunction, reduced and delayed cone responses, and supernormal and delayed rod responses. Photopic and dark adapted perimetry revealed central scotomata with widespread peripheral sensitivity loss. No disease causing sequence variants in NR2E3 were identified. CONCLUSIONS: The largest case series to date has been described of the clinical, psychophysical and electrophysiological characteristics of this unusual cone dystrophy with supernormal rod responses. Electrophysiological data were consistent with a post-phototransduction, but pre-inner nuclear layer, site of dysfunction. While the definitive diagnosis can only be made with electrophysiological testing, several characteristics that may increase suspicion of this diagnosis are presented.     

Retinal nerve fiber layer thickness in congenital color vision deficiency

PURPOSE: To evaluate the thickness of the retinal nerve fiber layer (RNFL) in subjects with congenital red-green color vision deficiency (CVD). METHODS: This study included 20 healthy subjects with congenital red-green CVD and 22 healthy subjects with normal color vision. After Ishihara test and examinations visual field by automated perimetry, all individuals underwent scanning laser polarimetry to measure the thickness of the RNFL. RESULTS: All scanning laser polarimetry parameters related to RNFL thickness were found to be similar in subjects with congenital CVD and normal color vision (p>0.05). CONCLUSIONS: This is the first report suggesting normal thickness of the RNFL in subjects with congenital red-green CVD.