goniodysgenesis

淋病发生
  • 文章类型: Journal Article
    这项研究的目的是(i)评估患有与前节发育不全(ASD)相关的先天性青光眼的犬眼球中虹膜前单核细胞和纤维血管膜的患病率,原发性青光眼与性腺发育(GD)相关,和继发性青光眼,(ii)按品种检查单核细胞和纤维血管膜之间的关联,性别,光学显微镜检查的年龄和组织病理学眼部变化。
    回顾了由于失明和未控制的青光眼而导致眼睛摘除的狗的记录。青光眼在临床和组织学上分为三组:先天性/ASD,初级/GD,和继发性青光眼。对各组的虹膜前膜(单核细胞或纤维血管)的存在与否和类型以及其他眼内组织学发现进行了回顾和统计学比较。
    总共,包括108只犬球(101只狗)。在19例先天性/ASD中,有10例通过光学显微镜鉴定出虹膜前单核细胞膜,40个小学中有29个,49个继发性青光眼球中有23个。在19例先天性/ASD中观察到3例血管膜,小学40人中有9人,49个继发性青光眼球中有24个。膜的类型和品种之间没有关联,性别,或年龄。外周前粘连在有纤维血管膜的球体中更常见,葡萄膜萎缩在具有单细胞膜的球体中更为常见。
    前虹膜单细胞膜在所有类型的犬青光眼中都很常见。在原发性青光眼的情况下,最容易用光学显微镜识别它们,在其他形式的青光眼中,它们被虹膜前纤维血管膜掩盖。
    UNASSIGNED: The objectives of this study were to (i) evaluate the prevalence of pre-iridal monocellular and fibrovascular membranes in canine globes affected with congenital glaucoma associated with anterior segment dysgenesis (ASD), primary glaucoma associated with goniodysgenesis (GD), and secondary glaucoma, and (ii) examine the associations between monocellular and fibrovascular membranes by breed, gender, age and histopathologic ocular changes on light microscopic examination.
    UNASSIGNED: Records of dogs who had eyes enucleated due to blindness and uncontrolled glaucoma were reviewed. Glaucoma was categorized clinically and histologically into three groups: congenital/ASD, primary/GD, and secondary glaucoma. The presence or absence and type of pre-iridal membrane (monocellular or fibrovascular) and other intraocular histologic findings were reviewed and compared statistically for each group.
    UNASSIGNED: In total, 108 canine globes (101 dogs) were included. Pre-iridal monocellular membranes were identified with light microscopy in 10 out of 19 congenital/ASD, 29 out of 40 primary, and 23 out of 49 secondary glaucoma globes. Fibrovascular membranes were observed in 3 out of 19 congenital/ASD, 9 out of 40 in primary, and 24 out of 49 secondary glaucoma globes. There were no associations between the type of membrane and breed, gender, or age. Peripheral anterior synechiae were more common in globes with fibrovascular membranes, and uveal atrophy was more common in globes with monocellular membranes.
    UNASSIGNED: Pre-iridal monocellular membranes are common in all types of canine glaucoma. They are identified with light microscopy most easily in cases of primary glaucoma, and they are masked by pre-iridal fibrovascular membranes in other forms of glaucoma.
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  • 文章类型: Journal Article
    原发性青光眼是一种痛苦,进步,和许多犬科动物品种报道的致盲疾病,在没有先兆眼内疾病的情况下,以眼内压(IOP)升高为特征。患有原发性青光眼的狗的临床观察表明,除了IOP升高外,许多受影响的眼睛还并发眼内炎症。在这项工作中,我们总结了目前有关炎症与狗原发性青光眼的知识,回顾专注于遗传学的研究,生理学,组织病理学,眼液的生物分析,治疗学,青光眼患者的临床结局。通过破坏血水和血视网膜屏障,颜料分散体,房水和泪膜的生化变化,犬原发性青光眼的发病机制似乎涉及不同程度的炎症变化,并从眼睛的前部到后部产生各种后果。其中,炎症通过减少虹膜角膜角水平的房水流出进一步影响IOP,并通过促进神经元变性加速视力丧失。因此,眼部炎症和IOP升高的恶性循环可能需要使用抗炎药作为原发性青光眼犬治疗方案的核心组成部分,治疗性(即,主动青光眼)或预防性地在未受影响的对侧眼中。
    Primary glaucoma is a painful, progressive, and blinding disease reported in many canine breeds, characterized by intraocular pressure (IOP) elevation in the absence of antecedent intraocular disease. Clinical observations of dogs with primary glaucoma suggest that many affected eyes develop concurrent intraocular inflammation in addition to elevated IOP. In this work, we summarize the current knowledge that relates inflammation to primary glaucoma in dogs, reviewing studies focused on genetics, physiology, histopathology, bioanalysis of ocular fluids, therapeutics, and clinical outcomes of glaucomatous patients. Through disruption of the blood-aqueous and blood-retinal barriers, pigment dispersion, and biochemical changes to the aqueous humor and tear film, the pathogenesis of canine primary glaucoma appears to involve inflammatory changes to various extents and with various consequences from the front to the back of the eye. Among others, inflammation further impacts IOP by reducing aqueous humor outflow at the level of the iridocorneal angle and accelerates vision loss by promoting neuronal degeneration. As such, the vicious cycle of ocular inflammation and IOP elevation might warrant the use of anti-inflammatory medications as a core component of the treatment regime for dogs with primary glaucoma, either therapeutically (i.e., actively glaucomatous eye) or prophylactically in the yet unaffected contralateral eye.
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  • 文章类型: Case Reports
    目的:常染色体显性遗传性中央凹发育不全(FVH1)是一种与PAX6基因突变相关的罕见疾病。作为一个孤立的疾病实体,FVH1不包括眼部疾病,如无虹膜,小眼症,白化病,和色盲.然而,它仅包括孤立的中央凹发育不全和中央凹发育不全伴老年性白内障。本报告的目的是介绍我们在来自两个FVH1家庭的四名患者中的发现,这些患者没有可见的眼科黄斑异常。
    方法:回顾两个FVH1家族的医疗记录和PAX6基因突变的遗传确认。
    方法:眼底照片,光学相干层析成像(OCT)和OCT血管造影(OCTA)图像,并确定了裂隙灯眼前节的发现。确定PAX6基因的突变类型。
    结果:一名3岁女孩(患者1)有视力发育受损的体征和症状,没有其他视网膜异常OU。OCT图像显示一个浅的中央凹窝,OCTA显示中央凹无血管区的缺失。第二名患者(患者2)是一名6岁的女孩,患有单侧轻度白内障和浅中央凹OU。在她无症状的母亲(患者3)和外祖父(患者4)中发现了类似的浅中央凹凹陷。尽管虹膜和后眼底正常,所有FVH1患者均有性腺发育.PAX6基因的遗传检测显示,患者1具有新的杂合突变(p。Asn365Lys)作为从头突变,患者2、3和4具有新的杂合突变(p。Pro20Ser)。
    结论:PAX6基因杂合突变可导致FVH1出现接近正常的黄斑。FVH1很难诊断,但是对中央凹结构和脉管系统的详细观察,检测是否存在淋病,有助于识别FVH1患者。
    OBJECTIVE: Autosomal dominant foveal hypoplasia (FVH1) is a rare disorder associated with mutations in the PAX6 gene. As an isolated disease entity, FVH1 does not include ocular disorders such as aniridia, microphthalmia, albinism, and achromatopsia. However, it only includes isolated foveal hypoplasia and foveal hypoplasia with presenile cataract. The purpose of this report is to present our findings in four patients from two families with FVH1 without visible ophthalmic macular abnormalities.
    METHODS: A review of the medical records of two families with FVH1 and genetic confirmation of mutations in the PAX6 gene.
    METHODS: Fundus photographs, optical coherence tomographic (OCT) and OCT angiographic (OCTA) images, and slit-lamp anterior segment findings were determined. The type of mutation of the PAX6 gene was determined.
    RESULTS: A 3-year-old girl (Patient 1) had signs and symptoms of an impairment in the development of vision without other retinal abnormalities OU. OCT images showed a shallow foveal pit, and OCTA showed the absence of the foveal avascular zone. The second patient (Patient 2) was a 6-year-old girl with unilateral mild cataract and shallow foveal pits OU. Similar shallow foveal pits were found in her asymptomatic mother (Patient 3) and maternal grandfather (Patient 4). Although the iris and posterior fundus were normal, all patients with FVH1 had goniodysgenesis. Genetic testing of the PAX6 gene revealed that Patient 1 had a novel heterozygous mutation (p.Asn365Lys) as a de novo mutation, and Patients 2, 3 and 4 had a novel heterozygous mutation (p.Pro20Ser).
    CONCLUSIONS: Heterozygous mutations in the PAX6 gene can cause FVH1 with nearly normal appearing macula. FVH1 is difficult to diagnose, but detailed observations of the foveal structure and vasculature, and detecting the presence of goniodysgenesis can be helpful in identifying patients with FVH1.
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  • 文章类型: Case Reports
    暂无摘要。
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  • 文章类型: Journal Article
    OBJECTIVE: Canine primary closed-angle glaucoma (PCAG) is a complex disease caused by multiple genetic factors. A c.590G>A variant in OLFML3 was recently reported to be a candidate for pectinate ligament abnormality (PLA) and PCAG in the Border Collie. We investigated the association of this variant with PLA and PCAG in Border Collies from the United Kingdom.
    METHODS: The OLFML3 variant was genotyped in 106 Border Collies comprising 90 with normal eyes (controls) and 16 with PLA (n = 11) and/or PCAG (n = 5) (cases). Genotyping was performed in an additional 103 Border Collies to estimate variant frequency within the population. To investigate the association of the variant with disease in other breeds, genotyping was performed in 337 non-Border Collies with PLA and/or PCAG.
    RESULTS: Of the 90 controls, 71 were homozygous for the wild-type allele, two were homozygous for the variant, and 17 were heterozygous. Of the 16 cases, three were homozygous for the wild-type allele, 11 were homozygous for the variant, and two were heterozygous. The association of the variant allele with disease was significant (P = 1.1 x 10-9 ). We estimated the frequency of this variant to be 4.4% within the United Kingdom Border Collie population, and it was not identified in clinically affected dogs of any other breed.
    CONCLUSIONS: This study confirms the association of the OLFML3 variant with PLA and PCAG in Border Collies from the United Kingdom. DNA testing for the variant and selective breeding can reasonably be expected to result in a reduction of PLA and PCAG prevalence in the breed.
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  • 文章类型: Journal Article
    The purpose of this study is to describe the short-term incidence, clinical features, and management of glaucoma in children after successful surgery for stage 4 retinopathy of prematurity (ROP).
    The retrospective study included all eyes undergoing successful surgery for stage 4 ROP with good outcomes at a tertiary eye care center between June 2014 and June 2016. Cases developing postoperative glaucoma underwent examination under anesthesia for measurement of intraocular pressures (IOP), corneal diameters, Retcam-assisted fundus imaging, and gonioscopy. Outcomes of glaucoma management were evaluated.
    Hundred eyes of 70 babies underwent successful surgery for stage 4 ROP (with postoperative attached retina, and minimal sequelae) with minimum follow-up of 15 months. Six eyes (6%) developed postoperative glaucoma. Of these, four eyes had undergone lens-sparing vitrectomy and two were managed with lensectomy and vitrectomy (LV). Median time duration for development of glaucoma after primary vitreous surgery was 17.5 weeks. Two cases could be managed with topical IOP-lowering agents alone, whereas four required filtering surgeries (trabeculotomy with trabeculectomy and 0.04% mitomycin C [MMC] application). Average IOP decreased from 25 ± 2.36 to 12.2 ± 2.05 mmHg at 12 months from glaucoma diagnosis.
    Glaucoma is a potential adverse event following successful vitreous surgery for stage 4 ROP. A combined trabeculotomy-trabeculectomy along with MMC gives favorable outcome.
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  • 文章类型: Case Reports
    背景:开角型青光眼是Beagles报道的唯一类型的原发性青光眼。该病例报告描述了Beagle的原发性闭角型青光眼及其诊断和预后的相关性。
    方法:12岁,被绝育的男性Beagle被送往密歇根州立大学(MSU)眼科比较服务中心,以评估疑似视力障碍.左眼(OS)的完整眼科检查显示:眼睑痉挛,没有威胁反应,中度巩膜充血,轻度弥漫性角膜水肿,散瞳,小行星透明病,视神经乳头髓鞘形成和拔罐减少,和轻度视网膜血管衰减。右眼检查(OD)在正常范围内。眼内压(IOP)为24mmHgOD和49mmHgOS。房角镜检查OD显示狭窄的虹膜角膜角,伴有中度果胶韧带发育不良,其特征是在所有4个象限中都有宽基的果胶韧带束(纤维latae)和实心片(薄层)。DNA测试表明,这只狗没有携带Gly661ArgADAMTS10突变,该突变是比格犬原发性开角型青光眼(POAG)的原因。OS用0.005%拉坦前列素和2%盐酸多佐胺/0.5%苹果酸噻吗洛尔眼用溶液治疗7个月,然后由于不受控制的眼压而摘除。组织病理学评估与性腺发育是一致的,非穿孔,葡萄膜基质的片状带从虹膜的基部桥接到Descemet膜的末端。从青光眼OS的初始诊断大约14个月,OD也发展为青光眼并被摘除。组织病理学发现与性腺发育OD一致。
    结论:据我们所知,这是在临床支持的比格犬中首次报道的PACG伴性腺发育异常的病例,遗传,和组织病理学数据。它强调了角镜检查在患有青光眼的比格犬中的重要性。有必要对更多数量的狗进行进一步研究,以表征该品种中PACG的临床表现和遗传。
    BACKGROUND: Open angle glaucoma is the only type of primary glaucoma reported in Beagles. This case report describes a primary angle-closure glaucoma in a Beagle and its diagnostic and prognostic relevance.
    METHODS: A 12-year-old, neutered male Beagle presented to the Michigan State University (MSU) Comparative Ophthalmology Service for evaluation of suspected visual impairment. Complete ophthalmic examination of the left eye (OS) revealed: blepharospasm, absent menace response, moderate episcleral congestion, mild diffuse corneal edema, mydriasis, asteroid hyalosis, decreased myelination and cupping of the optic nerve head, and mild retinal vascular attenuation. Examinations of the right eye (OD) were within normal limits. Intraocular Pressure (IOP) were 24 mmHg OD and 49 mmHg OS. Gonioscopy OD revealed a narrow iridocorneal angle with moderate pectinate ligament dysplasia characterized by broad-based pectinate ligament strands (fibrae latae) and solid sheets (laminae) throughout all 4 quadrants. DNA testing revealed that the dog did not carry the Gly661Arg ADAMTS10 mutation responsible for primary open angle glaucoma (POAG) in Beagles. The OS was medically managed with latanoprost 0.005% and dorzolamide HCl 2% /timolol malate 0.5% ophthalmic solutions for 7 months and then enucleated due to uncontrolled IOP. Histopathologic evaluation was consistent with goniodysgenesis with a broad, non-perforate, sheet-like band of uveal stroma bridging from the base of the iris to the terminal arborization of Descemet\'s membrane. Approximately 14 months from the initial diagnosis of glaucoma OS, OD also developed glaucoma and was enucleated. Histopathologic findings were consistent with goniodysgenesis OD.
    CONCLUSIONS: To our knowledge, this is the first reported case of PACG with goniodysgenesis in a Beagle supported by clinical, genetic, and histopathologic data. It highlights the importance of gonioscopy in Beagles with glaucoma. Further studies with a larger number of dogs are warranted to characterize clinical manifestations and inheritance of PACG in this breed.
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  • 文章类型: Journal Article
    性腺发育是眼前房的发育异常。它通常被认为是先天性的狗(犬狼疮),并与青光眼和失明有关。性腺发育和早发性青光眼最初于1990年代后期在澳大利亚的BorderCollies中出现,随后在欧洲和美国的该品种中发现。本研究的目的是确定边境牧羊犬性腺发育的遗传基础。临床诊断基于来自11个不同国家的受影响和未受影响的狗的兽医眼科医生的检查结果。使用Illumina高密度犬单核苷酸变体基因分型芯片的基因分型用于鉴定候选遗传区域。在17号染色体上存在高度显著的关联峰,p值为2×10-13。使用公共数据库评估候选基因的表达谱和进化保守性。三只患有青光眼的狗的全基因组序列,在所有六只受影响的动物中,三只受性腺发育严重影响的狗和三只未受影响的狗在olfactomedinlike3(OLFML3)基因中发现了错义变异。在所有9例青光眼病例和14个其他严重受影响的动物中的12个中,这对于风险等位基因是纯合的。据报道,在67只未受影响的动物中,该变体只有一个是纯合的(父母的后代都具有性腺发育,他们也是该变体的纯合的)。对谱系信息的分析与该品种严重的性腺发育(可能导致青光眼)的常染色体隐性遗传方式一致。识别候选遗传区域和推定的致病变异将有助于育种者降低边境牧羊犬种群的性腺发生频率和青光眼风险。
    Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye. It is generally considered to be congenital in dogs (Canis lupus familiaris), and has been associated with glaucoma and blindness. Goniodysgenesis and early-onset glaucoma initially emerged in Border Collies in Australia in the late 1990s and have subsequently been found in this breed in Europe and the USA. The objective of the present study was to determine the genetic basis of goniodysgenesis in Border Collies. Clinical diagnosis was based on results of examinations by veterinary ophthalmologists of affected and unaffected dogs from eleven different countries. Genotyping using the Illumina high density canine single nucleotide variant genotyping chip was used to identify a candidate genetic region. There was a highly significant peak of association over chromosome 17, with a p-value of 2 × 10-13 Expression profiles and evolutionary conservation of candidate genes were assessed using public databases. Whole genome sequences of three dogs with glaucoma, three severely affected by goniodysgenesis and three unaffected dogs identified a missense variant in the olfactomedin like 3 (OLFML3) gene in all six affected animals. This was homozygous for the risk allele in all nine cases with glaucoma and 12 of 14 other severely affected animals. Of 67 reportedly unaffected animals, only one was homozygous for this variant (offspring of parents both with goniodysgenesis who were also homozygous for the variant). Analysis of pedigree information was consistent with an autosomal recessive mode of inheritance for severe goniodysgenesis (potentially leading to glaucoma) in this breed. The identification of a candidate genetic region and putative causative variant will aid breeders to reduce the frequency of goniodysgenesis and the risk of glaucoma in the Border Collie population.
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  • 文章类型: Journal Article
    Pectinate ligament dysplasia (PLD) is significantly associated with primary closed angle glaucoma (PCAG) in several dog breeds. Gonioscopy screening for PLD is advised in breeds in which PLD and PCAG are particularly prevalent in order that affected dogs may be eliminated from the breeding population. The Border Collie (BC), Hungarian Vizsla (HV) and Golden Retriever (GR) breeds are currently under investigation for PLD by the British Veterinary Association/Kennel Club/International Sheep Dog Society (BVA/KC/ISDS) Eye Scheme. The authors aimed to determine the prevalence of PLD in UK populations of BC, HV and GR and to investigate possible associations between the degree of PLD and age and sex. Gonioscopy was performed in 102 BCs, 112 HVs and 230 GRs and the percentage of iridocorneal angle affected by PLD was estimated and classified as unaffected (0 per cent), mildly affected (<20 per cent), moderately affected (20-90 per cent) or severely affected (>90 per cent). Eleven of 102 (13.8 per cent) BCs, 16/112 (14.3 per cent) HVs and 60/230 (26.1 per cent) GRs were moderately or severely affected by PLD. The prevalence of PLD was significantly higher in GR than both BC and HV. There was a significant positive correlation between PLD and age in the HV and GR but not in the BC. There was no association between PLD and sex in any breed.
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  • 文章类型: Journal Article
    BACKGROUND: The aims of this study were to: determine the prevalence of pectinate ligament dysplasia (PLD) in populations of Basset hounds (BH), Flatcoated retrievers (FCR) and Dandie Dinmont terriers (DDT) resident in the UK; investigate possible associations between the degree of PLD and age, sex and intraocular pressure (IOP) and; investigate possible associations between IOP and age and sex. Gonioscopy was performed in both eyes of 198 BH, 170 FCR and 95 DDT and the percentage of iridocorneal angle affected by PLD was estimated and classified as unaffected (0 %), mildly affected (<20 %), moderately affected (20-90 %) or severely affected (>90 %). Rebound tonometry was performed bilaterally in the majority of enrolled dogs.
    RESULTS: Seventy-six of 198 (38.4 %) BH, 36/170 (21.2 %) FCR and 21/95 (22.1 %) DDT were moderately or severely affected by PLD. The prevalence of PLD was significantly higher in BH than both FCR and DDT. In all breeds there was a significant positive correlation between PLD and age. In the BH only there was a significant association between PLD and sex. In the DDT only there was a weak negative correlation between PLD and IOP and a moderately strong negative correlation between IOP and age.
    CONCLUSIONS: PLD is prevalent and significantly associated with age in all three breeds we investigated. The linear relationship between PLD and age can be explained by the progression of PLD over time which would contribute to the high prevalence of PLD despite widespread screening.
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