Torpedo maculopathy

鱼雷黄斑病
  • 文章类型: Journal Article
    目的:分析鱼雷黄斑病(TM)并报告该病的特征。
    方法:回顾性研究。对临床诊断数据库的审查确定了2016年至2022年之间8例视网膜中TM病变的患者。采用多模态成像对病例进行分析。
    结果:所有病例均为单侧,无症状,色素减退.它们与周围色素沉着的视网膜色素上皮不同程度的变化有关。所有病变均位于颞叶视网膜的水平轴上,指向中央凹,除了一个患者的病灶位于中央凹下方。光学相干断层扫描成像显示所有眼睛的内部视网膜正常。在TM病变区域,在轻度病例(3例)中发现了交叉带的衰减。所有其他五名患者的外核层变薄,TM病变的椭圆体区和交叉区丢失。其中四例有视网膜下空洞/裂隙,其中两个还包括内部脉络膜开挖。没有患者有任何脉络膜新生血管的迹象。1型TM患者的平均年龄为18岁,2型TM患者的平均年龄为16.5岁。
    结论:在这个大型案例系列中,我们无法检测到不同类型TM之间的年龄差异。与以前的讨论相反,2型TM也可发生在年轻患者中。
    OBJECTIVE: To analyze torpedo maculopathy (TM) and to report the characteristics of the disease.
    METHODS: Retrospective study. The review of a database for clinical diagnosis identified eight patients with TM lesions in the retina between 2016 and 2022. Multimodal imaging was used to analyze the cases.
    RESULTS: All cases were unilateral, asymptomatic, and hypopigmented. They were associated by surrounding hyperpigmented retinal pigment epithelium changes to varying degrees. All lesions were located in the temporal retina on the horizontal axis, pointing towards the fovea, except for one patient with a lesion inferior to the fovea. Optical coherence tomography imaging revealed a normal inner retina in all eyes. In the area of the TM lesion, attenuation of the interdigitation zone was seen in mild cases (three cases). All other five patients had thinning of the outer nuclear layer and loss of ellipsoid zone and interdigitation zone of the TM lesion. Four of these cases had a subretinal cavitation/cleft, and two of them additionally an inner choroidal excavation. No patient had any sign of choroidal neovascularization. The average age for patients with type 1 TM was 18 years and for type 2 TM 16.5 years.
    CONCLUSIONS: In this large case series, we could not detect an age difference between the different types of the TM. Contrary to previous discussions, type 2 TM can also occur in young patients.
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  • 文章类型: Journal Article
    背景:鱼雷黄斑病(TM)是一种罕见的,以椭圆形为特征的先天性疾病,病因不明的颞叶黄斑脉络膜视网膜病变。据我们所知,据报道,TM的最长随访时间为5年。在此,我们报告了两名TM患者的10年随访,以进一步表征该疾病的长期自然史。
    方法:在基线时对两名鱼雷黄斑病变患者进行检查,然后在基线后5年和10年再次检查。使用彩色眼底照相评估眼睛,自动视野检查,眼底自发荧光和谱域光学相干层析成像。在整个观察期间,两名患者的视觉功能保持稳定。在病例1中,在10年的观察期内,没有证据表明病变形态发生了变化。病例2显示鱼雷病变内神经感觉视网膜囊性变性的进展。病例1报告了多余牙齿的病史,并进行了基因序列和APC基因的缺失/重复分析,但未检测到临床上有意义的变异。
    结论:我们的研究结果支持TM是一种非进行性疾病,具有视觉功能的长期稳定性。病例1的遗传分析未能检测到与Gardner综合征的任何关联。
    BACKGROUND: Torpedo maculopathy (TM) is a rare, congenital condition characterized by an oval-shaped, chorioretinal lesion in the temporal macula of unknown etiology. To our knowledge, the longest reported follow-up of TM is 5 years. Herein we report 10 years of follow-up on two patients with TM to further characterize the long-term natural history of the condition.
    METHODS: Two patients with torpedo maculopathy were examined at baseline and then again at 5 years and 10 years from baseline. Eyes were evaluated using color fundus photography, automated perimetry, fundus autofluorescence and spectral domain optical coherence tomography. Visual function of both patients remained stable throughout the observation period. In case 1, there was no evidence of change in lesion morphology over the 10 year observation period. Case 2 showed progression of cystic degeneration of the neurosensory retina within the torpedo lesion. Case 1 reported a history of supernumerary teeth and underwent gene sequence with deletion/duplication analyses of the APC gene but no clinically significant variants were detected.
    CONCLUSIONS: Our findings support the position that TM is a nonprogressive condition with long-term stability of visual function. Genetic analysis of case 1 failed to detect any association with Gardner syndrome.
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  • 文章类型: Case Reports
    报告一种罕见的III型鱼雷黄斑病变,具有独特的视网膜下液表现。
    一名9岁的患者被转诊到视网膜,以评估颞叶黄斑中色素减退的椭圆形病变,右眼中的视网膜下液区域。病变表现为内部和外部视网膜和视网膜色素上皮衰减,视网膜内液和视网膜下液,浆液性神经感觉视网膜脱离,光学相干层析成像和脉络膜内挖掘。眼底自发荧光显示出一条向下追踪的液体通道。静脉内施用荧光素血管造影术显示鱼雷病变区域有窗口缺陷,提示脉络膜冲洗。
    该病例是文献中第3例视网膜下液的鱼雷黄斑病变,具有视网膜内囊性改变和依赖性视网膜下液的独特组合,有点类似于脉络膜开挖的中央凹外侧的最佳疾病。随着更多病例的出现,鱼雷黄斑病的形态继续扩大。
    UNASSIGNED: To report a rare type III torpedo maculopathy lesion with a unique manifestation of subretinal fluid.
    UNASSIGNED: A nine-year-old patient was referred to retina for an evaluation of a hypopigmented oval-shaped lesion in the temporal macula with an area of inferior subretinal fluid in the right eye. The lesion demonstrated inner and outer retinal and retinal pigment epithelial attenuation, intraretinal and subretinal fluid, a serous neurosensory retinal detachment, and inner choroidal excavation on optical coherence tomography. Fundus autofluorescence showed a lane of downward-tracking fluid. Intravenously administered fluorescein angiography revealed a window defect in the area of the torpedo lesion suggesting choroidal flush.
    UNASSIGNED: The case is the third documented case of torpedo maculopathy with subretinal fluid in the literature with a unique combination of intraretinal cystic changes and dependent descending subretinal fluid, somewhat akin to a Best disease outside of the fovea with choroidal excavation. The morphology of torpedo maculopathy continues to expand as more cases are revealed.
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  • 文章类型: Case Reports
    目的:鱼雷黄斑病是一种偶然的,先天性视网膜病变。典型的临床发现是单侧的,对称,椭圆形,下颞叶黄斑色素减退。在大多数情况下,病变沿水平方向,是鱼雷形的,并且鼻缘指向中央凹。诊断是根据其特征形状确定的,光学相干断层扫描(OCT)的定位和发现。鱼雷黄斑病的病因和发病机制尚不清楚,但它被认为是视网膜色素上皮(RPE)的先天性缺陷。本出版物的目的是强调这种诊断,并提出成年患者鱼雷黄斑病的偶然发现。
    方法:一名30岁女性患者报告进行常规眼部检查。右眼眼底检查显示椭圆形色素减退病变,其大小为1盘直径从中央凹下缘,随后是指向中心凹的同一轴上的卫星病变。根据OCT,OCT血管造影,眼底自发荧光,以及病变的典型形状和位置,该患者被诊断为右眼鱼雷黄斑病变。
    结论:一般来说,鱼雷黄斑病是无症状的,先天性,良性视网膜病变,通常是在常规眼底检查中意外诊断的。TM是非进行性视网膜发现,视觉功能恶化的风险最小,这不需要任何治疗。然而,由于脉络膜新生血管膜的罕见风险,建议每年检查一次。当从中央凹下发现单侧色素减退性病变时,有必要考虑这种诊断,为了区分它和脉络膜视网膜萎缩,疤痕,卵黄样营养不良,或其他RPE病变作为鉴别诊断的一部分。
    OBJECTIVE: Torpedo maculopathy is an incidental, congenital retinal lesion. The typical clinical finding is a unilateral, symmetric, oval, hypopigmented lesion in the inferotemporal macula. In most cases, the lesion is along the horizontal raphe, is torpedo-shaped, and the nasal edge is directed into the foveola. The diagnosis is determined on the basis of its characteristic shape, localization and findings on optical coherence tomography (OCT). The etiology and pathogenesis of torpedo maculopathy is unclear, but it is believed to be a congenital defect of the retinal pigment epithelium (RPE). The aim of this publication is  highlight this diagnosis and to present an incidental finding of torpedo maculopathy in an adult patient.
    METHODS: A 30-year-old female patient reported for a routine eye examination. Fundus examination of the right eye revealed an oval hypopigmented lesion with a size of 1 disk diameter inferotemporally from the fovea, which was followed by a satellite lesion in the same axis directed into the foveola. Based on OCT, OCT angiography, fundus autofluorescence, and the typical shape and location of the lesion, the patient was diagnosed with torpedo maculopathy in the right eye.
    CONCLUSIONS: In general, torpedo maculopathy is an asymptomatic, congenital, benign retinal lesion, which is mostly diagnosed accidentally during a routine fundus examination. TM is non-progressive retinal finding with a minimal risk of deterioration of visual functions, which does not require any treatment. Nevertheless, due to the rare risk of a choroidal neovascular membrane, it is recommended to examine patients once a year. It is necessary to consider this diagnosis when a unilateral hypopigmented lesion is found inferotemporally from the fovea, and to distinguish it from chorioretinal atrophy, scar, vitelliform dystrophy, or other RPE lesions as part of the differential diagnosis.
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  • 文章类型: Case Reports
    报告一例27岁女性增生性视网膜病变伴牵拉性视网膜脱离伴轻度β地中海贫血。
    一位患有β地中海贫血的年轻女士,双眼视力下降,对她的右眼影响更严重。病人的其他全身病史,包括眼科病史,平淡无奇。眼底检查显示双眼周围视网膜缺血,右眼牵引视网膜脱离。
    β型地中海贫血与显著的视网膜病变无关,然而增生性视网膜病变。然而,在这种情况下,患者出现了需要手术的牵引性视网膜脱离。这表明β地中海贫血患者可能发生增殖性变化,建议对这些患者进行常规眼底检查。
    UNASSIGNED: To report a case of proliferative retinopathy with tractional retinal detachment associated with beta thalassemia minor in a 27-year-old female.
    UNASSIGNED: A young lady having beta thalassemia minor presented with decreased vision in both eyes, the effect being more severe in her right eye. The patient\'s other systemic history, including ophthalmic history, was unremarkable. The fundus examination revealed peripheral retinal ischemia in both eyes and tractional retinal detachment in the right eye.
    UNASSIGNED: Beta thalassemia minor is not associated with striking retinal pathology, nevertheless proliferative retinopathy. However, in this case the patient developed tractional retinal detachment that required surgery. This indicates that proliferative changes may develop in patients with beta thalassemia, and routine fundus examinations could be recommended for these patients.
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  • 文章类型: Case Reports
    目的:报告并记录一例圆锥角膜感染的鱼雷黄斑病变。病例报告:一名健康的16岁男性患者,双眼受圆锥角膜影响,被转介到我们医院的角膜服务机构进行随访。在左眼扩张眼底检查期间,一个椭圆形,界限分明,在颞部近凹区域观察到色素沉着性病变,指向黄斑的中心。对病变进行了多模态成像,并根据临床表现确定鱼雷黄斑病变的诊断。
    结论:这是在圆锥角膜患者中描述的首例鱼雷黄斑病变。这种关联可能仅仅是偶然的,或者是影响角膜和视网膜结构的发育异常的结果。
    OBJECTIVE: To report and document a case of torpedo maculopathy found in a patient affected by keratoconus.Case report: An healthy 16-year-old male patient, affected by keratoconus in both eyes, was referred to the cornea service of our hospital for a follow-up visit.During the dilated fundus examination of the left eye, an oval, well-demarcated, hypopigmented lesion was observed in the juxtafoveal temporal region, pointing towards the center of the macula. Multimodal imaging of the lesion was performed, and the diagnosis of Torpedo Maculopathy was established based on the clinical picture.
    CONCLUSIONS: This is the first case of torpedo maculopathy described in a patient affected by keratoconus. This association may be merely fortuitous or the result of developmental abnormalities affecting both corneal and retinal structures.
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  • 文章类型: Case Reports
    目的:描述鱼雷黄斑病(TM)的罕见表现。
    方法:一名25岁男性在视网膜诊所检查左眼黄斑瘢痕。他的视力为20/20,双眼N6,没有眼外伤史或任何医疗或眼部病史。眼前段安静,眼压正常。
    结果:患者的左眼在78D裂隙灯生物显微镜下显示平坦,弥漫性色素沉着过多的梭状鱼雷样病变,边缘锐利,周围色素沉着减退主要位于中央凹的颞部,它的尖端指向它,只是穿过垂直的中央凹中线。双眼间接检眼镜检查眼底扩张检查显示,双眼均无周围脉络膜视网膜病变或玻璃体炎。通过病变的OCT扫描显示视网膜外层严重损伤,以及视网膜色素上皮的增厚和潜在的阴影,以及累及病变的低反射视网膜下裂隙。OCT还显示视网膜外层损伤,通过病变的色素减退边缘有完整的视网膜色素上皮。眼底自发荧光图像显示左眼整体出现低自发荧光病变,周围有斑片状高自荧光区。根据患者病史,临床和影像学检查结果,其他鉴别诊断,如非典型先天性视网膜色素上皮肥大(RPE),脉络膜痣,RPE错构瘤,排除了创伤和炎症。根据典型的病变形状和位置确认TM的诊断。
    结论:鱼雷病变伴弥漫性色素沉着异常罕见。
    OBJECTIVE: To describe a rare presentation of torpedo maculopathy (TM).
    METHODS: A 25-year-old male was examined in the retina clinic for a macular scar in the left eye. His visual acuity was 20/20, N6 in both eyes and no past history of ocular trauma or any medical or ocular history. The anterior segment was quiet and intraocular pressure was normal.
    RESULTS: The patient\'s left eye on 78D slit lamp biomicroscopy revealed a flat, diffusely hyperpigmented fusiform torpedo-like lesion with sharp margins and surrounding hypopigmentation located predominantly temporal to the fovea, with its tip pointing towards it and just crossing the vertical foveal midline. Dilated fundus examination with binocular indirect ophthalmoscopy revealed no peripheral chorioretinal lesions or vitritis in both eyes. OCT scan through the lesion revealed gross damage to the outer retinal layers, as well as thickening of the retinal pigment epithelium and underlying shadowing, as well as a hyporeflective subretinal cleft involving the lesion. OCT also revealed outer retinal layer damage with an intact retinal pigment epithelium through the lesion\'s hypopigmented margins. Fundus autofluorescence image revealed a globally hypoautofluorescent lesion in the left eye, with surrounding patchy hyperautofluoroscent areas. Based on the patient history, clinical and imaging findings, other differential diagnoses such as atypical congenital hypertrophy of retinal pigment epithelium (RPE), choroidal nevus, RPE hamartoma, trauma and inflammatory conditions were ruled out. The diagnosis of TM was confirmed based on the typical lesion shape and location.
    CONCLUSIONS: A torpedo lesion with diffuse hyperpigmentation is an unusually rare presentation.
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  • 文章类型: Case Reports
    视网膜上的鱼雷病变很少见,其临床意义尚未明确。此病例系列重点介绍了具有不同方向和色素沉着模式的非典型鱼雷病变患者。我们描述了第一例记录的下位病变病例,根据我们的知识,并增加了先前对双鱼雷病变的描述。
    Torpedo lesions in the retina are rare, and their clinical significance has not been well established. This case series highlights patients with atypical torpedo lesions with varying orientations and pigmentation patterns. We describe the first documented case of an inferiorly oriented lesion, to our knowledge, and add to the few previous descriptions of double-torpedo lesions.
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  • 文章类型: Case Reports
    一名24岁女性接受常规临床评估。她的最佳矫正视力为20/20,双眼眼前段的裂隙灯检查均正常。左眼眼底检查显示色素减退,一个椎间盘直径与中央凹的时间距离,色素沉着的尾巴从主要病变暂时延伸,与鱼雷黄斑病变一致。眼底自发荧光显示具有高自发荧光边界的低自发荧光。扫描源光学相干断层扫描(OCT)显示正常的内部视网膜和没有视网膜空化的外部视网膜变性。脉络膜毛细血管层的OCT血管造影术(OCT-A)显示,由于鱼雷病变内萎缩的外视网膜和RPE的传输增加以及颞叶色素沉着过度区域的信号衰减而引起的反向阴影。浅表毛细血管丛正常。该病例包括突尼斯妇女鱼雷黄斑病变的OCT-A多模态成像。需要进一步的报告来更好地了解这种罕见的情况。
    A 24-year-old woman presented for routine clinical evaluation. Her best-corrected visual acuity was 20/20 and slit-lamp examination of the anterior segment was normal in both eyes. Fundus examination of the left eye revealed a hypopigmented lesion, one disc diameter temporal to the fovea, with a hyperpigmented tail extending temporally from the main lesion, consistent with a torpedo maculopathy. Fundus autofluorescence showed an hypoautofluorescence with hyperautofluorescent border. Swept-source optical coherence tomography (OCT) showed a normal inner retina and a degeneration of the outer retina without retinal cavitation. OCT angiography (OCT-A) of the choriocapillaris layer revealed reverse shadowing caused by the increased transmission from the atrophied outer retina and RPE within the torpedo lesion and attenuation of signal in the area of the temporal hyperpigmentation. The superficial capillary plexus was normal. This case includes a multimodal imaging with OCT-A of torpedo maculopathy in a Tunisian woman. Further reports are required to provide a better understanding of this rare condition.
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  • 文章类型: Case Reports
    未经授权:报告1例鱼雷黄斑病变的多模态眼底成像方法,并应用脉络膜血管指数定量描述鱼雷黄斑病变的脉络膜结构变化。
    UNASSIGNED:一名无症状的41岁中国女性,偶然发现左眼有黄白色黄斑病变,被转诊到我们医院。她不知道以前的任何医疗条件。最佳矫正视力(BCVA)为20/20OD和20/25OS,分别。她的左眼眼底检查显示黄斑区域有一个界限清楚的鱼雷样色素减退病变,和朝向中央凹的锥形边缘。在鱼雷病变的下颞部可以看到色素沉积。荧光素血管造影显示相应的窗口缺损无渗漏,眼底自发荧光显示整个病变信号低。增强的深度成像光学相干断层扫描显示外部视网膜衰减,视网膜下空化,细微的内部脉络膜开挖和外部核层变薄。临床诊断为鱼雷黄斑病。脉络膜血管分布指数(CVI)和中央凹下脉络膜厚度(SFCT)显示脉络膜结构变化。结果表明,与同眼相比,患眼的中心凹下CVI和SFCT似乎相对较低。光学相干断层扫描血管造影显示病变颞区脉络膜毛细血管密度降低,鼻区毛细血管密度增加。功能检查,包括显微视野,多焦视网膜电图和静态视野检查也显示视网膜敏感性降低,病变区域刺激幅度降低,可疑暗点。经过12个月的随访,患者的视力和病变的临床表现没有变化。
    UNASSIGNED:鱼雷黄斑病变可以通过多模态成像的异常表现来识别。通过脉络膜血管指数定量测量的病变区域脉络膜血管减少可能在鱼雷黄斑病的发病机理中起作用。
    UNASSIGNED: To report a case of torpedo maculopathy with multimodal fundus imaging methods, and apply the choroid vascularity index to quantitatively describe the choroidal structural changes in torpedo maculopathy.
    UNASSIGNED: An asymptomatic 41-year-old Chinese woman with an incidentally found yellowish-white macular lesion in her left eye was referred to our hospital. She was unaware of any prior medical conditions. The best corrected visual acuity (BCVA) was 20/20 OD and 20/25 OS, respectively. Fundus exam of her left eye revealed a well-circumscribed torpedo-like hypopigmented lesion in the macula region, and the tapered edge directed toward the fovea. Pigment deposition could be seen in the inferotemporal portion of the torpedo lesion. Fluorescein angiography showed the corresponding window defect without leakage and fundus autofluorescence demonstrated low signal throughout the lesion. Enhanced depth imaging optical coherence tomography revealed outer retinal attenuation, subretinal cavitation, subtle inner choroidal excavation and thinning of outer nuclear layer. The diagnosis of torpedo maculopathy was clinically made. Choroidal vascularity index (CVI) and sub-foveal choroidal thickness (SFCT) were applied to display changes of choroidal structure. The results implied that both subfoveal CVI and SFCT of the affected eye seemed relatively lower when compared with the fellow eye. Optical coherence tomography angiography showed reduced density of the choriocapillaris in the temporal area of the lesion and increased capillary density in the nasal area. Functional examinations, including microperimetry, multifocal electroretinogram and static perimetry also revealed reduced retinal sensitivity, decreased stimulated amplitude and suspected scotoma in the lesion area. After 12 months of follow-up, the patient\'s visual acuity and the clinical appearance of the lesion were unchanged.
    UNASSIGNED: The torpedo maculopathy may be identified by abnormal appearance with multimodal imaging. Decreased choroidal vascularity in the lesion area measured quantitatively by choroid vascularity index may play a role in pathogenesis of torpedo maculopathy.
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