目的：总结MAB21L2基因的变异和临床特点，并与高度同源的MAB21L1基因进行比较。 方法：对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析，回顾性分析既往文献报道的MAB21L2基因和高度同源基因MAB21L1变异的表型-基因型的关系。结果：在2个小眼畸形家系中发现2个MAB21L2基因杂合变异：先证者1携带已知变异c.151C>G/p.(Arg51Gly)，患者双眼小眼畸形伴虹膜脉络膜缺损，伴骨关节屈曲。母亲携带相同杂合变异但表型正常；先证者2携带未报道的变异c.1042G>T/p.(Glu348*)，左眼小眼畸形，右眼正常且无全身异常。结合文献回顾发现，在显性遗传模式下，80%的MAB21L2杂合致病变异(20/25)和100%的MAB21L1杂合致病变异(25/25)发生在氨基酸49-52 区域，导致小眼无眼或眼缺损异常(microphthalmia, anophthalmia or coloboma,MAC)；携带该区域MAB21L2基因杂合突变的患者除MAC外，部分还伴骨骼关节发育异常(12/24，50%)；杂合截短变异发生在MAB21L2基因可导致MAC(5/5，100%)，而发生在MAB21L1则不致病。 结论：在2个小眼畸形家系中发现了MAB21L2基因1个新致病变异和1个已知热点致病变异，通过文献综述比较和总结了MAB21L1和MAB21L2基因的突变频谱以及基因型-表型相互关系，为此类基因缺陷导致遗传病的诊断和鉴别诊断提供依据。
Objective: To summarize the genetic variations and clinical features of the MAB21L2 and compare them with the highly homologous MAB21L1 gene. Methods: A genotype -genotype analysis was performed on the patients with MAB21L2 gene variants in the clinical genetic database of Zhongshan Ophthalmic Center, Sun Yat-sen University. A retrospective review was undertaken to analyze the phenotype-genotype correlations of MAB21L2 gene variants and the highly homologous MAB21L1 gene variants reported in the previous literature. Results: Two heterozygous MAB21L2 gene variants were identified in two families with microphthalmia: Proband 1 carried the known variant c.151C>G/p.(Arg51Gly), presenting with bilateral microphthalmia with iris-choroidal coloboma and flexion of joints. The mother carried the same heterozygous variant but had a normal phenotype. Proband 2 carried the unreported variant c.1042G>T/p.(Glu348*), manifesting as left-sided microphthalmia with a normal right eye and no other systemic abnormalities. Through literature review, we found that under a dominant inheritance pattern, 80% of heterozygous pathogenic MAB21L2 variants (20/25) and 100% of heterozygous pathogenic MAB21L1 variants (25/25) occurred in the amino acid region 49-52, resulting in microphthalmia, anophthalmia, and coloboma (MAC). Some patients with heterozygous MAB21L2 variants in this region exhibited additional skeletal and joint dysplasia (12/24, 50%). Heterozygous truncating variants in MAB21L2 led to MAC (5/5, 100%), while those in MAB21L1 were non-pathogenic. Conclusions: This study identified a novel pathogenic variant and a known hotspot pathogenic variant of MAB21L2 in two families with microphthalmia. Through a comprehensive literature review, we compared and summarized the mutation spectrums and genotype-phenotype correlations of MAB21L1 and MAB21L2 genes, providing valuable insights for the diagnosis and differential diagnosis of genetic diseases caused by these gene defects.
目的：分析Hallermann-Streiff综合征(Hallermann-Streiff syndrome,HSS)继发性青光眼的临床表现，探讨其治疗方法。方法：采用病例系列研究与文献回顾方法，记录3例确诊为HSS继发性青光眼患者的视力、眼压、裂隙灯、超声生物显微镜、相干光断层扫描、角膜地形图、A超、B超、X线眼眶大小测量等检查结果。随访患者药物治疗、周边虹膜切除术、小梁切除术或青光眼阀植入术的疗效。结果：3例患者年龄分别为9、29和47岁，其中女性2例、男性1例。最佳矫正视力为0.04-0.5，平均屈光度为+12.1D，平均眼压为37.7 mmHg，平均角膜直径为9.1 mm，平均中央前房深度为2.43 mm，平均眼轴长度为18.13 mm，角膜地形图示平均K1值为56.97 D，平均K2值为60.65 D。眼眶水平径为28.86~31.40 mm，垂直径为30.16~32.90 mm。2例年轻患者为无晶状体眼，伴葡萄膜炎、瞳孔区纤维膜、视盘旁脉络膜萎缩弧。年长患者表现为蓝色巩膜、白内障、房角关闭，眼底表现为青光眼性视杯凹陷。3例患者平均身高143 cm，伴头发及眉毛稀疏、额头前凸、鼻子呈喙状、牙齿发育不全、下颌发育不全。术后平均随访47.7个月(范围：11~84个月)，眼压控制，视力与术前一致，无治疗相关并发症出现。结论：HSS继发性青光眼的眼部病变可表现为小眼眶、小眼球、小角膜、蓝色巩膜、无晶状体、瞳孔区纤维膜、葡萄膜炎、继发性青光眼及视盘旁脉络膜萎缩。对HSS继发性青光眼的患者，个性化地选择治疗方案，可以获得较好的治疗效果。
Objective: To demonstrate the clinical characteristics and surgical effects of glaucoma in Hallermann-Streiff syndrome(HSS). Methods: Observational case series and literature review. The results of ophthalmic examinations of three patients diagnosed as glaucoma with HSS were recorded, including visual acuity, intraocular pressure (IOP), slit-lamp microscopy, ultrasound biomicroscopy, optical coherence tomography, corneal topography, A-scan and B-scan ultrasonography, and orbital size measurement by X-ray. Peripheral iridectomy, glaucoma drainage device implantation or trabeculectomy, were performed in these patients. Results: Three HSS patients were 9, 29 and 47 years old, respectively, including 2 females and 1 male. The best corrected visual acuity was 0.04-0.5. The mean spherical equivalent refraction was +12.1 D. The average IOP was 37.7 mm Hg, and the average corneal diameter was 9.1 mm. The average central anterior chamber depth was 2.43mm. The average axial length was 18.13mm. Keratometry showed average K1 of 56.97 degrees, and K2 of 60.65 degrees. Two younger patients were aphakic bilaterally with uveitis, pupillary fibrous membrane and peripapillary choroidal atrophy. The older patient showed blue sclera, cataract, and anterior chamber angle closure. The horizontal orbital diameter was 28.76-31.40 mm, and vertical orbital diameter was 30.16-32.90 mm. All patients were proportionate nanism, with an average height of 143 cm. Craniofacial manifestations included dyscephalia and “bird-like” face, hypotrichosis, dental anomalies, and mandibular hypoplasia. They were followed up for an average of 47.7 months(range:11-84 months) after surgery. The IOPs were all controlled, and the visual acuities remained unchanged. No treatment-related complications occurred. Conclusions: HSS patients with glaucoma may present as small orbit, microphthalmia, microcornea, blue sclera, aphakia, pupillary fibrous membrane, uveitis, with atrophic chorioretinal changes. For these patients, personalized treatment may help to achieve better therapeutic effects.
数字眼科技术的蓬勃发展已经渗透于眼科各领域，并为眼科前沿技术研究带来了重大变革。文章对眼科前沿技术研究和发展进行综述，重点关注各项技术的突破和成果，聚焦国内的同时也放眼全球，阐明近年来全球数字眼科前沿技术现状和成果。如人工智能可运用于诸多疾病的精准监测、高发疾病的高效评估、远程医疗的技术支持等，提高了筛查、诊断、治疗等各环节的精确度和效率，减轻了医生的负担，展现了极大的应用潜能。其余各类技术方面，如数字成像技术也取得了飞跃式进展，在手术导航和影像诊断方面实现突破；3D建模技术和机器学习技术在手术设计和提高手术成功率方面立下汗马功劳，为世界各地的眼科疾病患者提供了更为高效、便捷的服务。此外，数字眼科技术还呈现出多元化发展的态势，与多学科协同交流，交叉运用。虽然诸多眼科前沿技术还处在发展初期，距离全覆盖实施仍有一定距离，在算法的准确性和可解释性、医疗伦理、民众接受度、医疗纠纷、临床技术挑战等问题上还存在很多不确定性。但毫无疑问的是，随着医学水平的日益提升，上述技术必会得到不断完善和普及。
The rapid evolution of digital ophthalmology technology has profoundly transformed various fields within ophthalmology. This article provides a comprehensive overview of the research and advancements in cutting-edge ophthalmology technologies, emphasizing both domestic and global breakthroughs and achievements. For instance, artificial intelligence has demonstrated remarkable potential in precise monitoring of various diseases, efficient assessment of high-prevalence conditions, and the technological support for telemedicine, thereby enhancing the accuracy and efficiency of screening, diagnosis, treatment processes, while alleviating the workload of medical professionals. Additionally, digital imaging technology has made significant strides in surgical navigation and diagnostic imaging, while 3D modeling and novel machine learning techniques have contributed to surgical planning and enhanced surgical success rates, ultimately delivering more efficient and convenient services to patients with eye diseases worldwide. Despite the diversified development trends and interdisciplinary collaborations that digital ophthalmology technology exhibits, many of these cutting-edge technology are still in their infancy, facing challenges in achieving high coverage, algorithm accuracy and interpretability, medical ethics, public acceptance, medical disputes, and clinical technical hurdles. Nonetheless, while the continuous advancement of medical standards, it is anticipated that these technologies will undergo further refinement and widespread adoption.
目的：回顾性分析以双眼复视为主要症状患者的病因及临床特点。方法：总结2021年1月至2022年3月就诊于潍坊医学院附属医院神经眼科的双眼复视患者的临床资料，分析其病因及临床特点。结果：共29例患者，男16例，女13例，年龄17岁～81岁，平均(59±14)岁；其中血管性因素8例，包括脑血管病5例，后交通动脉瘤2例，核间性眼肌麻痹1例；炎症、免疫性因素8例，包括重症肌无力4例，Tolosa-Hunt综合征2例，肥厚性硬脑膜炎1例，炎性假瘤1例；内分泌因素9例，包括糖尿病外周神经病变5例，甲状腺相关眼病4例；肿瘤2例，包括动眼神经鞘瘤1例，眼眶MALT淋巴瘤1例，外伤2例。结论：双眼复视的病因复杂，临床医生应重视筛查全身疾病，参照先定位，后定性原则，提高诊断正确率、减少误诊率。
Objective: The etiology and clinical characteristics of patients with binocular diplopia as main symptom were investigated using retrospective analysis method. Methods: The clinical data of patients with binocular diplopia treated in department of ophthalmolog y, affiliated hospital of Weifang Medical University from January 2021 to March 2022 was summarized and the etiology and clinical characteristics retrospectively. Results: There were totally 29 patients, 16 males and 13 females, aged from 17 to 81 years, with an average of (59 ± 14) years; among them, there were 8 cases derived from vascular factors, including 5 cases with cerebrovascular disease, 2 cases with posterior communicating artery aneurysm and 1 case with internuclear ophthalmoplegia. There were 8 cases derived from inflammatory and immune factors, including 4 cases with myasthenia gravis, 2 cases with Tolosa-Hunt syndrome, 1 case with hypertrophic meningitis and 1 case with inflammatory pseudotumor. There were 9 cases derived from endocrine factors, including 5 cases with peripheral neuropathy in diabetes and 4 cases with thyroid related ophthalmopathy. There were 2 cases derived from tumors, including 1 case with oculomotor schwannoma, 1 case with orbital MALT lymphoma and there were 2 other cases of trauma. Conclusions: The etiology of binocular diplopia is complicated and the clinicians should pay attention to the screening of systemic diseases of patients refer to the principle of localization diagnosis first and qualitative analysis next so as to improve the diagnostic accuracy and reduce the misdiagnosis rate.
目的：评价并汇总眼科成人日间手术患者病区护理管理的最佳证据，提高临床护理质量。方法：检索国内外数据库建库至2022年6月的日间手术患者病区护理管理的相关证据，包括系统评价、临床决策、证据总结、指南及专家共识。由2名研究人员独立对文献进行质量评价后，根据主题对证据进行提取和汇总。结果：根据纳入标准，共筛选出13篇文献，包括5篇专家共识、3篇证据总结、1篇循证实践、2篇系统评价、1篇指南。通过文献阅读、证据提取和归类，从日间手术护士准入资质、制定临床护理路径、院前管理、病历标准化、手术当日术前管理、术后管理、出院评估、康复及随访指导8个方面形成17条最佳证据。结论：该项目总结了眼科成人日间手术患者病区护理管理的最佳证据，可为护理管理者制定眼科日间手术病区流程方案、实践标准提供循证依据。
Objective: To evaluate and summarize the evidences of nursing management of ophthalmic postoperative adult patients intra-day ward, and improve the quality of clinical nursing. Methods: The related databases were searched from the establishment to June 2022. The searching contents include systematic review, clinical decision-making, evidence summary, guidelines and expert consensus on nursing management in postoperative patients intra-day wards at home and aboard. Based on the theme, the evidences were extracted and summarized after independent literature quality evaluation was conducted by 2 researchers. Results: Base on the inclusion criteria, a total of 13 pieces of literature were selected, including 5 expert consensus, 3 evidence summaries, 1 evidence-based practice, 2 systematic reviews and 1 guideline. Through literature review, evidence extraction and classification, a total of 17 pieces of evidence on 8 aspects were summarized, including admission qualifications for daytime surgical nurses, development of clinical nursing path, pre-hospital management, medical record standardization, preoperative management on the day of surgery, postoperative management, discharge assessment, rehabilitation and follow-up guidance. Conclusion: This article summarized the best evidence of nursing management for ophthalmic adult day surgery patients in intra-day ward,to provide scientific evidences for nursing managers to develop ophthalmic intra-day ward guidelines and practical standards.
报告一例视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD)合并人体免疫缺陷病毒(human immunodeficiency virus,HIV)感染/获得性免疫缺陷综合征(acquired immune deficiency syndrome,AIDS)，并通过文献复习，总结其发病机制、临床特征、治疗及预后。检索文献包括7篇英文文献(8个病例)，1篇中文文献，共报道9例NMOSD合并HIV感染/AIDS病例，结合本文报道的1例共10例，其中5例为女性，5例为男性，3例HIV感染/AIDS为新发，其他病例的HIV感染/AIDS发病均早于NMOSD。临床表现上，7例均为视神经炎和脊髓炎同时或相继发生，2例表现为单相病程或复发性脊髓炎，1例仅表现为双眼相继发生的视神经炎，10例患者头或脊髓MRI均有典型的视神经或脊髓异常信号，伴或不伴强化。2例患者未进行水通道蛋白4(aquaporin protein-4,AQP4)抗体IgG检测，其余8例中5例AQP4抗体阳性、3例阴性。针对AIDS的治疗，10例患者中，8例接受了高效抗逆转录病毒治疗(highly active antiretroviral therapy,HAART)。针对NMOSD的治疗，10例患者中，急性期有8例患者接受糖皮质激素冲击治疗、3例患者接受血浆置换、2例接受丙种球蛋白治疗，序贯治疗期有6例患者接受免疫抑制剂治疗，其中1例因高胆红素血症停药。发生视神经炎的7例中，2例患者经治疗仍失明、5例视力部分恢复，发生脊髓炎的8例中，5例患者遗留截瘫或轻瘫、3例肌力部分恢复。1例因严重并发症去世。NMOSD合并HIV感染/AIDS临床较罕见，预后差，往往遗留严重的视力障碍及瘫痪等，临床治疗较为棘手，糖皮质激素和免疫抑制剂并非使用禁忌证，但制定治疗决策前需要充分考虑风险与获益的平衡。
A case of neuromyelitis optica spectrum disorders(NMOSD) complicated with human immunodeficiency virus(HIV) infection/acquired immunodeficiency syndrome(AIDS) was reported, and the pathogenesis, clinical characteristics, treatment and prognosis were summarized through the literature review. The retrieved literatures included seven English literatures (eight cases) and one Chinese literature, in which a total of nine cases of NMOSD co-infected with HIV infection/AIDS were reported. Combined with the case reported in this paper, the total number of cases was ten, among which five cases were female and five cases were male, three cases of HIV infection/AIDS were newly developed, and the other cases had earlier onset of HIV infection/AIDS than NMOSD. In terms of clinical manifestations, seven cases all had simultaneous or sequential optic nerve and myelitis, two patients presented with a uniphasic course or recurrent myelitis, and one case presented only with bilateral optic neuritis occurring sequentially in both eyes. All ten patients had typical abnormal signals of the optic nerve or spinal cord with or without enhancement on cranial or spinal MRI. Two patients did not undergo AQP4 antibody IgG testing , and of the remaining seven cases, five were positive for AQP4 antibodies and three were negative. For AIDS treatment, eight of the ten patients received highly active antiretroviral therapy(HAART). For NMOSD treatment, among the ten patients, eight patients received intravenous methylprednisolone,three patients received plasmapheresis, and two patients received intravenous immunoglobulin in the acute phase. Six patients received immunosuppressive therapy during the sequential treatment period, and one of them was discontinued due to hyperbilirubinemia. Of the seven cases with optic neuritis, two patients remained blind after treatment and five had partial recovery of vision. Of the eight cases with myelitis, five patients were left with paraplegia or mild paralysis, and three had partial recovery of muscle strength. One case died due to serious complications.NMOSD combined with HIV infection/AIDS is rare in clinic and has a poor prognosis. Patients are often left with severe visual impairment and paralysis. Clinical treatment is quite difficult, hormones and immunosuppressive agents are not considered as contraindications. Treatment decisions need to be made with fully considered about the balance of risks and benefits.
近些年来，眼科疾病的临床诊断治疗及其病理发展的研究对医学影像学技术的要求日益增高，磁共振技术已广泛应用于研究眼科疾病的发病机制、治疗和分析预后。基于体素的形态学分析(voxel-based morphometry，VBM)作为一种新型的磁共振图像的分析方式，VBM可以对活体脑进行无创的形态学研究，定量分析磁共振图像中每一个单独体素内的白质、灰质的密度和体积的变化，从而反映对应区域的解剖学结构差异，能发现常规MRI不能检测到的灰质和白质结构的细微改变。不同于那些只作用于预设的感兴趣区域的分析方法，VBM完全没有偏向性，它探测全脑的异常变化，无需对感兴趣区的先验性假设，不会被研究人员的主观思维影响。这提供了一种全新的方法来探索眼科疾病中的神经病理变化，尤其在青光眼和弱视的研究中应用最多。
With the increasing requirements for medical imaging technologies in clinical diagnosis, treatment and pathological basis research of ophthalmic diseases, magnetic resonance imaging (MRI) has been broadly used in the diagnosis and prognostic evaluation of ophthalmic diseases. As a novel analytic method of MR images, voxel-based morphometry (VBM) quantitatively analyzes the changes in brain gray, white matter density and volume in each individual voxel in MR images to reflect the differences of anatomical structures in the corresponding areas, and it provides a novel way to reveal the neuronal pathological changes in ophthalmic diseases.
目的：探讨眼眶原发性滑膜肉瘤(synovial sarcoma，SS)的临床病理学及分子遗传学特点。方法：收集1例复旦大学附属眼耳鼻喉科医院眼科2020年10月收治并经病理学检查证实为眼眶原发性SS的病例，同时回顾性分析文献中已报道的10例眼眶原发性SS的临床及病理检查资料，包括临床表现、影像学检查、组织学特点、免疫表型及分子病理学检查结果。结果：患者女，53岁，因“复发性右眼眶内肿物13余年”收治入院。SS组织病理学：肿瘤由弥漫分布的单一短梭形细胞组成，肿瘤细胞异型性明显，胞质少，核分裂多见；肿瘤侵犯结膜下、巩膜表面、视神经鞘膜、眶内肌肉及纤维脂肪组织。免疫组织化学检查提示波形蛋白(Vimentin)、Calpolnin、CD99、Bcl-2均阳，SMARCB1(INI-1)部分阳/弱阳。荧光原位杂交(fluorescence in situ hybridization，FISH)法检测到SS18基因易位。回顾性总结文献中已报道的10例和本例(总共11例)眼眶SS患者，其中男性2例，女性9例，左眼6例，右眼5例；患者发病年龄为1~53岁，平均年龄22岁，中位年龄24岁。患者术前病程范围较广，为1周~13年。11例中，5例症状至少出现3年以上，多表现为进行性眼球突出伴眼球移位及运动受限，疼痛及视力下降。CT和MRI上多表现为分叶状或者卵圆形软组织肿块，部分因出血坏死出现囊性外观，增强扫描显示病灶呈不均匀强化。组织学上，本组11例眼眶SS中单相纤维型7例，双相型4例，单相纤维型中有2例存在分化差的成分。免疫组织化学染色显示：上皮样成分表达上皮标记(CKpan、CK7、CK19)和Vimentin；梭形细胞表达Vimentin、CD99、Bcl-2、Calpolnin、TLE1及灶性表达上皮标记。结论：眼眶原发性滑膜肉瘤罕见，形态上需要和眼眶其他软组织来源恶性肿瘤相鉴别，其具有特征性t(x:18)(p11;q11)染色体易位，产生SY T-SSX融合基因，分子病理学的检测有助于最后确诊。
Objective: To investigate the clinicopathological and molecular genetics features of synovial sarcoma (SS) of the orbit. Methods: We retrospectively reviewed 10 published cases of primary SS of the orbit, along with 1 case of primary SS of the orbit confirmed by pathology who was admitted to the ophthalmology department of Eye & ENT Hospital of Fudan University in October 2020. The clinical data, radiological findings,morphology, immunophenotype and genetic characteristics of the cases were analyzed. Results: Our case was a 53-year-old woman with an SS in the right orbit, which had recurred multiple times. Histopathologic examination showed a primitive tumor composed of spindled and ovoid cells. Focal infiltration was observed in adjacent structures, such as the sub-conjunctiva, scleral surface, optic nerve sheath, muscle, and fibro-fatty tissue. Immunohistochemistry showed positivity for vimentin, calponin, CD99, and Bcl-2 and loss of INI-1expression, which is typical of SS. Fluorescence in situ hybridization (FISH) showed the (X;18)translocation in the tumor cells. The analysis included 2 males and 9 females aged between 1 and 53 years old (mean: 22 years; median: 24 years). Among the SS cases, 6 left eyes and 5 right eyes (all monocular cases)were affected. Symptoms had been present from 1 week to 13 years in the case from our hospital, while in 5 cases, symptoms had been present for at least 3 years. Common clinical features of the patients included proptosis or globe displacement, decreased vision, and pain. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed an ovoid mass with heterogenous enhancement and a cystic appearance,which was probably attributable to hemorrhage or necrosis. Of these 11 cases, 7 cases were biphasic SS,4 were monophasic fibrous SS, and 2 were poorly differentiated in monophasic SS. Immunohistochemistry revealed positivity for pan-cytokeratin (CKpan), CK7, CK19, vimentin, cluster of differentiation 99 (CD99),B-cell lymphoma 2 (Bcl-2), calponin and transducin-like enhancer protein 1 (TLE1). Conclusion: Primary SS of the orbit is extremely rare and needs to be distinguished from other spindle cell tumors of orbital soft tissue. The SS diagnosis is based on the presence of the t(X;18) (p11; q11) translocation, which results in an SYT-SSX fusion gene.
脉络膜破裂大部分是由撞击引起的对冲伤，冲击力通过玻璃体传导眼底引起，因此一般脉络膜破裂会有比较明确的外伤或者钝挫伤病史。本文将报告1例16岁体校男生在无明显外伤史出现多发性脉络膜破裂伤，通过查阅文献发现有文献报道在隐匿性假性黄色瘤(pseudoxanthoma elasticum，PXE)疾病中可在无明显外伤或轻微外伤出现脉络膜破裂，并根据文献复习考虑本病例为隐匿性PXE可能。
Most of the choroidal rupture is mostly caused by impact injury, and the impact force is caused by the vitreous conduction through the fundus. Therefore, the choroidal rupture generally has a clear history of trauma or blunt trauma. This article will report a case of a 16-year-old boy in a sports school who developed multiple choroidal ruptures without obvious trauma history. Through literature review, it was found that choroidal rupture can occur without obvious or minor trauma in subtle pseudoxanthoma elasticum (PXE) disease, and based on literature review, this case was considered as a possibility of subtle PXE.
报道1例睫状体无色素上皮腺瘤(adenoma of nonpigmented ciliary epithelium，ANPCE)并进行相关文献复习。患者主要症状为左眼视力逐渐下降3个月，视物不清半个月。经眼部检查及左眼超声生物显微镜(ultrasound biomicroscopy，UBM)检查显示左眼虹膜周边隆起，边界清晰。予虹膜睫状体肿物切除术并行常规病理检查：光镜下肿瘤组织由分化好的上皮细胞组成，排列成腺泡状及条索状，细胞间可见红染无结构的基底膜样物；免疫组织化学表达：S-100(+)、Vimentin(+)、EMA(+)、CKpan(+)、Melan-A(+)；最终病理诊断ANPCE。手术后截至随访日期，术后3个月无疾病进展。
A case of adenoma of nonpigmented ciliary epithelium (ANPCE) was reported and relevant literatures were reviewed. The left eye visual acuity of the patient gradually decreased for 3 months, and half a month was blurred vision. The vision examination and ultrasound biomicroscopy (UBM) from the left eye examination revealed a bulge in the peripheral iris in the left eye, with the boundaries are clear. The left eye was treated with ciliary mass resections and routine pathological examination: microscopy showed that the tumor tissue consists of well-differentiated epithelial cells, the tumor cells were arranged in tubes and cords, between the cells were seen red-stained unstructured basement membrane; immunohistochemistry showed: S-100 (+), Vimentin (+), EMA (+), CKpan (+), Melan-A (+); the final pathological diagnosis was ANPCE. There was no progression of the disease during the 3 months following the surgery on the follow-up date.
