choroidal nevi

  • 文章类型: Journal Article
    目的:探索大小,增长,和儿童脉络膜痣的地形分布,以深入了解脉络膜形成。
    方法:使用儿科临床和人群研究数据的回顾性连续病例系列,比较成人数据。
    方法:Cole眼科研究所(CEI)数据库(2005年12月至2023年1月)的临床数据来自20例脉络膜痣患儿(<20岁)的回顾性连续病例系列。对于人口数据,先前报告的悉尼儿科眼病研究参与者汇总数据的48名儿童,悉尼近视研究,悉尼儿童眼科研究,悉尼青少年血管和眼部疾病研究纳入研究。回顾了眼底照片,并在径向散点图上绘制了在CEI上通过宽场成像看到的18个脉络膜痣的位置。为了比较,从CEI数据库中确定了100例连续患有脉络膜痣的成年人。主要结果是大小,增长,脉络膜痣的地形分布。
    结果:儿童的最大基底直径中位数为1.6mm(范围为0.4-4.2)。大多数脉络膜痣(75%)保持稳定,16%的人在后续表现出增长。平均增长率计算为0.12毫米/年(范围0.10-0.15)。儿童时期没有注意到恶性转化。所有次要变化(玻璃疣,橙色颜料,和视网膜下液)与儿童脉络膜痣相关的发生率低于成人(p<0.05)。儿童脉络膜痣的位置明显比成人更靠后。儿童到中央凹的中位距离为2.1mm(范围0.5-8.5),成人为5.1mm(范围0.4-16)(p<0.0001)。
    结论:儿童脉络膜痣的发病和生长提示儿童期脉络膜痣形成活跃。后部地形分布可能支持脉络膜黑素细胞迁移和成熟的发育框架。
    To explore size, growth, and topographic distribution of choroidal nevi in children to gain insights into choroidal nevogenesis.
    Retrospective consecutive case series using pediatric clinic - and population-study data, comparing to adult data.
    Clinical data from Cole Eye Institute (CEI) database (December 2005-January 2023) was derived from a retrospective consecutive case series of 20 children (< 20 years) with choroidal nevi. For population data, 48 children from previously reported pooled data of the participants of the Sydney Pediatric Eye Disease Study, Sydney Myopia Study, Sydney Childhood Eye Study, and Sydney Adolescent Vascular and Eye Disease Study were included. Fundus photographs were reviewed and the locations of 18 choroidal nevi seen at CEI with widefield imaging were mapped on a radial scatter plot. For comparison, 100 consecutive adults with choroidal nevi were identified from CEI database. Main outcomes were size, growth, and topographic distribution of choroidal nevi.
    The median largest basal diameter was 1.6 mm (range 0.4-4.2) in children. Most choroidal nevi (75%) remained stable, and 16% demonstrated growth at follow-up. The mean growth rate was calculated as 0.12 mm/year (range 0.10-0.15). Malignant transformation was not noted during childhood. All secondary changes (drusen, orange pigment, and subretinal fluid) associated with choroidal nevi in children were less common than those in adults (p < .05). Choroidal nevi in children were located significantly more posterior than in adults. The median distance to fovea was 2.1 mm (range 0.5-8.5) in children and 5.1 mm (range 0.4-16) in adults (p < .0001).
    The onset and growth of choroidal nevi in children suggest active choroidal nevogenesis in childhood. A posterior topographic distribution may support the developmental framework for migration and maturation of choroidal melanoblasts.
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  • 文章类型: Journal Article
    目的:确定患有不确定的小脉络膜黑素细胞病变(SCML)的患者中循环肿瘤细胞(CTC)的存在。
    方法:回顾性病例系列。
    方法:47例脉络膜黑色素细胞病变患者,肿瘤厚度为2.5mm或更小,最大基底直径(LBD)为10mm或更小。
    方法:分析血液样品的CTC和CTC中存在的单体3(M3)。对CTC阳性的患者进行组织活检。
    方法:关于临床特征和组织活检结果的CTC的存在和M3状态。
    结果:所有(n=47)病变的厚度中位数为1.1mm(范围:0.2-2.5mm)和LBD5.6mm(范围:2.0-10.0mm)。在25例患者中发现了CTC(n=25)。该组被分类为阳性(pCTC),并与由22名(n=22)患者组成的阴性(nCTC)进行比较。pCTC与nCTC组的中位肿瘤尺寸对于厚度为1.6mm(范围:0.6-2.5mm)对0.5mm(范围:0.2-2.5mm),对于LBD为6.6mm(范围:4.1-10.0mm)对4.0mm(范围:2.0-8.0mm)。LBD和厚度均与CTC的存在呈正相关(P<0.001)。与nCTC组相比,更高百分比的pCTC患者表现出LBD>5mm(36%对88%),视网膜下液(9.1%对56%),橙色颜料(4.5%对60%),超声中空度(9.1%对60%),并且存在多种危险因素(三个或更多因素为0%对68%),所有参数P<0.001。在CTC中具有二体3(n=7)与单体3(n=17)的患者的临床参数中未检测到显着差异。组织活检证实了25pCTC患者中的22例(88%)的葡萄膜黑色素瘤(UM),而由于材料不足或无效,其余3例无法进行结论性诊断。
    结论:我们报告,第一次,液体活检作为筛查SCML恶性肿瘤的额外工具的潜力的令人信服的证据。这些发现为实施液体活检以检测小UM和监测黑素细胞病变铺平了道路。
    OBJECTIVE: To determine the presence of circulating tumor cells (CTCs) in patients with indeterminate small choroidal melanocytic lesions (SCMLs).
    METHODS: Retrospective case series.
    METHODS: Forty-seven patients with choroidal melanocytic lesions 2.5 mm or less in tumor thickness and ≤ 10 mm in largest basal diameter (LBD).
    METHODS: Blood samples were analyzed for CTCs and the presence of monosomy-3 (M3) in CTCs. Tissue biopsy was performed in the patients who were CTC-positive (pCTC).
    METHODS: Presence and M3 status of the CTCs with regard to the clinical characteristics and results from tissue biopsy.
    RESULTS: Median thickness of all (n = 47) lesions was 1.1 mm (range: 0.2-2.5 mm), and LBD was 5.6 mm (range: 2.0-10.0 mm). Circulating tumor cells were found in 25 patients (n = 25). This group was classified as pCTC and compared with the CTC-negative (nCTC) group consisting of 22 patients (n = 22). Median tumor dimensions in the pCTC versus the nCTC group were 1.6 mm (range: 0.6-2.5 mm) versus 0.5 mm (range: 0.2-2.5 mm) for thickness and 6.6 mm (range: 4.1-10.0 mm) versus 4.0 mm (range: 2.0-8.0 mm) for LBD, respectively. Both LBD and thickness were positively associated (P < 0.001) with the presence of CTC. Compared with the nCTC group, a higher percentage of the pCTC group exhibited LBD > 5 mm (36% vs. 88%), subretinal fluid (9.1% vs. 56%), orange pigment (4.5% vs. 60%), sonographic hollowness (9.1% vs. 60%), and the presence of multiple risk factors (0% vs. 68% for ≥3 factors) with P < 0.001 for all parameters. No significant difference was detected in the clinical parameters of the patients who had disomy-3 (D3) (n = 7) versus M3 (n = 17) in their CTC. The tissue biopsy confirmed the uveal melanoma (UM) in 22 of the 25 pCTC patients (88%), whereas no conclusive diagnosis could be determined in the remaining 3 cases because of insufficient or invalid material.
    CONCLUSIONS: We report compelling evidence for the potential of liquid biopsy as an additional tool to screen SCMLs for malignancy. These findings pave the way toward the implementation of liquid biopsy to detect small UM and monitor melanocytic lesions.
    BACKGROUND: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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  • 文章类型: Journal Article
    许多文章报道了息肉样病变和脉络膜痣的关联;然而,脉络膜痣与脉络膜病变之间的关系尚未研究。
    研究中心性浆液性脉络膜视网膜病变(CSCR)患者脉络膜痣的患病率,并阐明有无脉络膜痣患者CSCR临床特征的潜在差异。
    病例对照研究。
    本研究包括对CSCR患者的医疗记录和多模态影像学资料的回顾性分析,以及年龄和性别匹配的健康对照者脉络膜痣患病率的前瞻性评估。所有参与者都接受了全面的眼科检查和多模态成像,包括暗场模式的红外扫描激光检眼镜,以检测中央40°×60°区域的脉络膜痣。
    共有199名CSCR患者(男性160名,女性39名,47.9±9.4岁)和184名年龄匹配的健康个体(男性139名,女性45名,包括44.8±12.5年)。在24例(12.1%)CSCR患者和10例(5.4%)健康对照中检测到脉络膜痣(p=0.01)。CSCR脉络膜痣患者中央凹下脉络膜厚度明显增高,较低的最佳矫正视力,中央视网膜厚度低于无脉络膜痣的CSCR患者(p<0.05)。脉络膜痣患者存在慢性CSCR的比值比为27.0(95%CI:3.1-231.9,p=0.003)。
    CSCR患者脉络膜痣的患病率高于年龄和性别匹配的健康人群。脉络膜痣可能与慢性CSCR有关。
    UNASSIGNED: A number of articles report the association of polypoidal lesions and choroidal nevi; however, the relationship between choroidal nevi and pachychoroidal disorders has not been studied.
    UNASSIGNED: To study the prevalence of choroidal nevi in central serous chorioretinopathy (CSCR) patients and to elucidate potential differences in the clinical characteristics of CSCR in patients with and without choroidal nevi.
    UNASSIGNED: Case-control study.
    UNASSIGNED: This study included a retrospective analysis of medical records and multimodal imaging data of CSCR patients and a prospective evaluation of the prevalence of the choroidal nevi in age- and sex-matched healthy controls. All participants received comprehensive ophthalmic examination and multimodal imaging including infrared scanning laser ophthalmoscopy in dark-field mode to detect choroidal nevi in the central 40° × 60° region.
    UNASSIGNED: A total of 199 CSCR patients (160 males and 39 females, 47.9 ± 9.4 years) and 184 age-matched healthy individuals (139 males and 45 females, 44.8 ± 12.5 years) were included. Choroidal nevi were detected in 24 (12.1%) CSCR patients and 10 (5.4%) healthy controls (p = 0.01). CSCR patients with choroidal nevi had statistically significantly higher subfoveal choroidal thickness, lower best-corrected visual acuity, and lower central retinal thickness (p < 0.05) than CSCR patients without choroidal nevi. The odds ratio for the presence of chronic CSCR in patients with choroidal nevi was 27.0 (95% CI: 3.1-231.9, p = 0.003).
    UNASSIGNED: The prevalence of choroidal nevi among patients with CSCR is higher than in age- and sex-matched healthy population. Choroidal nevi may be associated with chronic CSCR.
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  • 文章类型: Journal Article
    脉络膜黑色素瘤需要可靠而精确的临床检查和诊断,以将其与良性脉络膜痣区分开。为了实现准确的诊断,以及监测疾病的进展,使用各种成像模式,包括非侵入性光学相干断层扫描(OCT)和光学相干断层扫描血管造影(OCTA)。这篇综述首先介绍了OCT和OCTA的发展以及图像生成方法。这概述了对OCT/OCTA图像显示的内容的理解,以及图像伪影是如何产生的。介绍了眼睛特定血管层的解剖结构和成像。然后,脉络膜黑色素瘤的解剖学方面,它的诊断和区别于转移,和脉络膜痣。这篇综述的目的是严格评估OCT和OCTA在脉络膜黑色素瘤诊断中的应用。
    Choroidal melanoma requires reliable and precise clinical examination and diagnosis to differentiate it from benign choroidal nevi. To achieve accurate diagnosis, as well as monitoring the progression of disease, various imaging modalities are used, including non-invasive optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). This review begins with a historical account of the development of OCT and OCTA and the methods of generation of images. This outlines the understanding of what OCT/OCTA images show, as well as how image artifacts arise. The anatomy and imaging of specific vascular layers of the eye are introduced. Then, anatomical aspects of choroidal melanoma, its diagnosis and differentiation from metastasis, and choroidal nevi are presented. The purpose of this review is to critically evaluate application of OCT and OCTA in the diagnosis of choroidal melanoma.
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  • 文章类型: Journal Article
    背景:葡萄膜黑色素瘤(UM)是成人中最常见的眼内肿瘤。尽管原发肿瘤控制良好,高达50%的患者发生转移,这是致命的。UM通常无症状表现,通常通过临床检查和影像学检查来诊断。使其成为少数未经活检诊断的癌症之一。因此,需要替代诊断工具。循环肿瘤DNA(ctDNA)已显示出作为癌症筛查和监测的液体活检靶标的潜力。这项研究的目的是评估使用特定UM基因突变在UM中检测ctDNA的可行性和临床实用性。
    方法:我们使用了高灵敏度的数字液滴PCR(ddPCR)测定法来定量UM驱动突变(GNAQ,GNA11,PLCβ4和CYSTLR2)在无细胞DNA(cfDNA)中。在具有已知突变状态的六个良好建立的人UM细胞系中分析cfDNA。分析了UM兔模型的血液和房水以及患者血液中的cfDNA。将人UM细胞接种到兔脉络膜上腔,从纵向外周血和房水抽取中定量突变的ctDNA。血液临床标本取自原发性UM患者(n=14),脉络膜痣患者(n=16)和健康个体(n=15)。
    结果:体外模型验证了ddPCR从UM细胞上清液中检测突变的cfDNA的特异性和准确性。在兔子模型中,ctDNA的血浆和房水水平与肿瘤生长相关。值得注意的是,ctDNA的检测先于眼内肿瘤的临床检测。在人体标本中,虽然我们在健康对照中没有检测到任何ctDNA的痕迹,我们在所有UM患者中检测到ctDNA。我们观察到UM患者的ctDNA水平明显高于痣患者,ctDNA水平和恶性肿瘤之间有很强的相关性。值得注意的是,在痣患者中,ctDNA水平与临床危险因素的存在高度相关。
    结论:我们报告,第一次,来自体外试验的令人信服的证据,和体内动物模型和临床标本的突变的ctDNA作为UM进展的生物标志物的潜力。这些发现为实施液体活检以检测和监测UM肿瘤铺平了道路。
    BACKGROUND: Uveal melanoma (UM) is the most common intraocular tumor in adults. Despite good primary tumor control, up to 50% of patients develop metastasis, which is lethal. UM often presents asymptomatically and is usually diagnosed by clinical examination and imaging, making it one of the few cancer types diagnosed without a biopsy. Hence, alternative diagnostic tools are needed. Circulating tumor DNA (ctDNA) has shown potential as a liquid biopsy target for cancer screening and monitoring. The aim of this study was to evaluate the feasibility and clinical utility of ctDNA detection in UM using specific UM gene mutations.
    METHODS: We used the highly sensitive digital droplet PCR (ddPCR) assay to quantify UM driver mutations (GNAQ, GNA11, PLCβ4 and CYSTLR2) in cell-free DNA (cfDNA). cfDNA was analyzed in six well established human UM cell lines with known mutational status. cfDNA was analyzed in the blood and aqueous humor of an UM rabbit model and in the blood of patients. Rabbits were inoculated with human UM cells into the suprachoroidal space, and mutated ctDNA was quantified from longitudinal peripheral blood and aqueous humor draws. Blood clinical specimens were obtained from primary UM patients (n = 14), patients presenting with choroidal nevi (n = 16) and healthy individuals (n = 15).
    RESULTS: The in vitro model validated the specificity and accuracy of ddPCR to detect mutated cfDNA from UM cell supernatant. In the rabbit model, plasma and aqueous humor levels of ctDNA correlated with tumor growth. Notably, the detection of ctDNA preceded clinical detection of the intraocular tumor. In human specimens, while we did not detect any trace of ctDNA in healthy controls, we detected ctDNA in all UM patients. We observed that UM patients had significantly higher levels of ctDNA than patients with nevi, with a strong correlation between ctDNA levels and malignancy. Noteworthy, in patients with nevi, the levels of ctDNA highly correlated with the presence of clinical risk factors.
    CONCLUSIONS: We report, for the first time, compelling evidence from in vitro assays, and in vivo animal model and clinical specimens for the potential of mutated ctDNA as a biomarker of UM progression. These findings pave the way towards the implementation of a liquid biopsy to detect and monitor UM tumors.
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  • 文章类型: Case Reports
    Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally.
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  • 文章类型: Journal Article
    OBJECTIVE: To study the use of ultrasound color Doppler imaging and indocyanine green (ICG) angiography for identification of malignant vasculature of choroidal tumors.
    METHODS: The study included 46 patients (46 eyes) with tumors of the choroid: 19 men and 26 women aged 22 to 89 years, average age 53.2±17.1 years. All patients underwent indocyanine green angiography and Doppler ultrasound imaging. At the time of examination, thickness of the tumors ranged from 1.1 mm to 3.0 mm, and the base diameter from 4.0 mm to 13.0 mm. Choroidal melanoma was diagnosed in 27 patients, choroidal nevus in 10, choroidal hemangioma in 5, and choroidal metastasis in 4 patients.
    RESULTS: The results of indocyanine green angiography demonstrate that the pathological malignant vasculature was determined: nevi was diagnosed in 7 out of 10 patients, choroidal melanoma in 16 out of 27, metastasis in 2 out of 4, and hemangioma in none of the 5 patients. Pathological malignant vasculature was determined in most patients with choroidal melanoma (77.8%), in all patients with choroidal hemangioma and in 3 patients with choroidal metastases. Ultrasound imaging revealed malignant vasculature in 15 of 27 (56%) patients with choroidal melanoma, it could be identified in all patients with hemangioma in 2 patients and with choroidal metastases, and in none patients with choroidal nevi.
    CONCLUSIONS: Indocyanine green angiography helps verify malignant vasculature in 77.8% of patients with small and medium sized choroidal melanomas. Angioarchitecture of choroidal tumors visualized with indocyanine green angiography is characterized by variability of patterns, which should be taken into account in the differential diagnosis of various pathological diseases.
    UNASSIGNED: На основе применения ангиографии с индоцианином зеленым и ультразвукового дуплексного сканирования с цветовым допплеровским картированием (ЦДК) — ультразвуковой допплерографии (УЗДГ) изучить возможности идентификации собственной сосудистой сети при новообразованиях хориоидеи.
    UNASSIGNED: В исследование включены 46 пациентов (46 глаз) с новообразованиями хориоидеи: 19 мужчин и 27 женщин в возрасте от 22 до 89 лет, средний возраст — 53,2±17,1 года. Всем пациентам проводилось УЗДГ глазных яблок, а также ангиография с индоцианином зеленым. На момент обследования высота опухолей составляла от 1,1 до 3,0 мм, диаметр — от 4,0 до 13,0 мм. Диагноз меланомы хориоидеи установлен у 27 пациентов, невуса хориоидеи — у 10, гемангиомы хориоидеи — у 5, метастаза в хориоидею — у 4 больных.
    UNASSIGNED: При проведении ангиографии с индоцианином зеленым выявление свечения собственных сосудов хориоидеи при невусах диагностировано у 7 из 10 пациентов, при меланоме — у 16 из 27, при метастазе — у 2 из 4, при гемангиоме — ни у одного из 5 больных. Собственная сеть опухоли диагностирована у большей части (77,8%) больных с меланомой и у всех пациентов с гемангиомой, а также у 3 пациентов с метастатическим поражением. При проведении УЗДГ при невусах хориоидеи кровоток не определялся, при меланоме хориоидеи кровоток определялся у 15 из 27 (56%) пациентов, при гемангиоме его идентификация имела место у всех пациентов, а при метастатическом поражении — у 2 больных.
    UNASSIGNED: Ангиография с индоцианином зеленым позволяет диагностировать сосудистую сеть у 77,8% больных с меланомой хориоидеи малых и средних размеров. Ангиоархитектоника новообразований хориоидеи, визуализируемая при ангиографии с индоцианином зеленым, отличается вариабельностью паттернов, которые следует учитывать в дифференциальной диагностике различных патологических состояний.
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  • 文章类型: Journal Article
    OBJECTIVE: To evaluate the MOLES system for identifying malignancy in melanocytic choroidal tumors in patients treated for choroidal melanoma.
    METHODS: Records of 615 patients treated for choroidal melanoma between January 2017 and December 2019 were reviewed. Patients were excluded if iris and/or ciliary body involvement (106 patients), inadequate fundus photography (26 patients), no images available for review (21 patients) and/or treatment was not primary (11 patients). Demographic data and AJCC TNM Stage were collected. Color fundus and autofluorescence photographs (FAF), optical coherence tomography (OCT) and B-scan ultrasounds were prospectively reviewed. MOLES scores were assigned according to five criteria: mushroom shape, orange pigment, large size, enlarging tumor and subretinal fluid.
    RESULTS: A total of 451 patients (mean age, 63.9 ± 13.9 years) were included. At treatment, mean largest basal tumor diameter (LBD) and thickness were10.3 ± 2.8 mm (range, 3.0-23.0) and 4.3 mm (range, 1.0-17.0). All but one (0.2%) had MOLES scores of ≥3. Eighty-two patients were treated after surveillance lasting a mean of 1.5 years. Initially, most (63/82; 76.8%) had a MOLES score ≥ 3. Importantly, none of the 451 tumors had a score of <2, and as such, the MOLES protocol would have indicated referral to an ocular oncologist for 100% of patients.
    CONCLUSIONS: The MOLES scoring system is a sensitive (99.8%) tool for indicating malignancy in melanocytic choroidal tumors (MOLES ≥ 3). If the examining practitioner can recognize the five features suggestive of malignancy, MOLES is a safe tool to optimize referral of melanocytic choroidal tumors for specialist care.
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  • 文章类型: Journal Article
    BACKGROUND: To estimate the prevalence of posterior segment eye lesions and to identify their ocular and systemic associations within the Gutenberg Health Study (GHS) in Germany.
    METHODS: Assessment and grading of fundus images as well as physical examination and history taking were performed in the cross-sectional analysis of 15,010 subjects (aged 35-74 years) using standardised procedures to determine the prevalence and associations of various posterior segment eye lesions.
    RESULTS: Fundus photographs of both eyes were available for 12,782 (85.2%; 50% female) subjects. The prevalence weighted to the region of Mainz and Mainz-Bingen in Germany was for choroidal nevi 2.4%, drusen of the optic nerve head 0.2%, tilted discs 1.5%, chorioretinal scars suggestive of toxoplasmosis 0.2%, retinitis pigmentosa 0.04% and persistent hyaloid artery 0.02%. Choroidal nevi were positively associated with a history of myocardial infarction (OR = 2.7, 95% confidence interval 1.2-6.2, p value = 0.017). Tilted discs were positively associated with increased intraocular pressure (OR = 1.09 per mm Hg (1.02-1.16), p = 0.011) and negatively associated with smoking (OR 0.4 (0.3-0.7), p = 0.0022). Participants with tilted discs had a mean spherical equivalent of - 3.6 dioptres (standard deviation 4.0) compared with - 0.4 dioptres (2.4) to those without.
    CONCLUSIONS: Our study is-to the best of our knowledge-the first to determine the prevalence of drusen of optic nerve head among Caucasians, to show a positive association between tilted discs and increased intraocular pressure and questions a possible link between choroidal nevi and myocardial infarction. It also showed that participants with tilted discs had a lower mean spherical equivalent than those without.
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  • 文章类型: Journal Article
    Choroidal nevi are common benign melanocytic lesions of the posterior uvea.
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