Intersection of two rare conditions:Clinical reflection on tuberous sclerosis combined with primary lymphedema

This editorial discusses a case report recently published in the World Journal of Clinical Cases.The report describes the clinical presentation,imaging,diagnosis,and treatment of a patient with tuberous sclerosis complex(TSC)combined with primary lymphedema(PLE).Additionally,it retrospectively analyzes the data of 16 previously reported cases of children with TSC combined with PLE to summarize the epidemiology,genetic diagnosis,and current main treatments of these patients.The report also speculates on the pathological and physiological mechanisms underlying TSC combined with PLE.TSC combined with PLE is rare;therefore,the report provides a theoretical basis for understanding the pathophysiological mechanisms and treatment options for patients with TSC and PLE.Comprehensive clinical management of TSC is essential due to the diverse and multiorgan nature of its manifestations,often requiring a multidisciplinary approach for newly diagnosed cases.

MicroRNA-451 from Human Umbilical Cord-Derived Mesenchymal Stem Cell Exosomes Inhibits Alveolar Macrophage Autophagy via Tuberous Sclerosis Complex 1/Mammalian Target of Rapamycin Pathway to Attenuate Burn-Induced Acute Lung Injury in Rats

Objective Our previous studies established that microRNA(miR)-451 from human umbilical cord mesenchymal stem cell-derived exosomes(hUC-MSC-Exos)alleviates acute lung injury(ALI).This study aims to elucidate the mechanisms by which miR-451 in hUC-MSC-Exos reduces ALI by modulating macrophage autophagy.Methods Exosomes were isolated from hUC-MSCs.Severe burn-induced ALI rat models were treated with hUC-MSC-Exos carrying the miR-451 inhibitor.Hematoxylin-eosin staining evaluated inflammatory injury.Enzyme-linked immunosorbnent assay measured lipopolysaccharide(LPS),tumor necrosis factor-α,and interleukin-1βlevels.qRT-PCR detected miR-451 and tuberous sclerosis complex 1(TSC1)expressions.The regulatory role of miR-451 on TSC1 was determined using a dual-luciferase reporter system.Western blotting determined TSC1 and proteins related to the mammalian target of rapamycin(mTOR)pathway and autophagy.Immunofluorescence analysis was conducted to examine exosomes phagocytosis in alveolar macrophages and autophagy level.Results hUC-MSC-Exos with miR-451 inhibitor reduced burn-induced ALI and promoted macrophage autophagy.MiR-451 could be transferred from hUC-MSCs to alveolar macrophages via exosomes and directly targeted TSC1.Inhibiting miR-451 in hUC-MSC-Exos elevated TSC1 expression and inactivated the mTOR pathway in alveolar macrophages.Silencing TSC1 activated mTOR signaling and inhibited autophagy,while TSC1 knockdown reversed the autophagy from the miR-451 inhibitor-induced.Conclusion miR-451 from hUC-MSC exosomes improves ALI by suppressing alveolar macrophage autophagy through modulation of the TSC1/mTOR pathway,providing a potential therapeutic strategy for ALI.

Tuberous sclerosis complex combined with primary lymphedema:A case report

BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient's clinical presentation,imaging findings,and treatment.And a retrospective analysis was conducted on 14 published relevant case reports.CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling.This swelling is already present from birth.The patient’s memory had been progressively declining.Seizures had occurred 1 year prior at an unknown frequency.The patient was diagnosed with TSC combined with PLE through multimodal imaging examination:Computed tomography,magnetic resonance imaging,and lymphoscintigraphy.The patient underwent liposuction.The swelling of the patient's right lower limb significantly improved after surgery.Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.CONCLUSION TSC with PLE is a rare and systemic disease.Imaging can detect lesions of this disease,which are important for diagnosis and treatment.

Tuberous Sclerosis Complex:Imaging Characteristics in 11 Cases and Review of the Literature

Tuberous sclerosis complex（TSC） is an uncommon multiorgan disorder that may present many and different manifestations on imaging. Radiology plays an important role in diagnosis and management, and can substantially improve the clinical outcome of TSC. Therefore, a comprehensive understanding of this disease is essential for the radiologist. The manifestations of TSC on computer tomography（CT） and magnetic resonance（MR） images were analyzed. Eleven patients with a clinical diagnosis of TSC were retrospectively reviewed. Central nervous system lesions included subependymal nodules（SENs）（11/11）, subependymal giant cell astrocytomas（SEGAs）（2/11）, cortical and subcortical tuber lesions（5/11）, and white matter lesions（4/11）. Of the 6 patients with abdominal scans, there were 6 cases of renal angiomyolipomas（AMLs）, and one case of hepatic AMLs. Of the 4 patients undergoing chest CT, lung lymhangioleiomyomatosis（LAM）（2/4）, and multiple small sclerotic bone lesions（2/4） were observed. Different modalities show different sensitivity to the lesion. Analysis of images should be integrated with patients＇ history in order to diagnose TSC.

Coincidence of hepatocelluar carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex: A case report

Tuberous sclerosis complex (TSC) is a dominantly inherited disorder which characterized by the growth of harmatomatous in multiple organs. Unlike the common development of renal angiomyolipoma, hepatic angiomyolipoma rarely occur in patients with TSC. We report here a patient with hepatic angiomyolipomas and concurrent hepatocellular carcinoma in TSC. This represents the first reported case in English literature. In this patient, multiple hepatic angiomyolipomas were diagnosed with recognition of their fat components and typical clinical settings. Hepatocellular carcinoma in the left liver lobe was definitely diagnosed by US guided biopsy. In such clinical settings, fat containing lesions in liver can be reasonably treated as angiomyolipomas, but non fat containing lesions must be differentiated from hepatocellular carcinoma, imaging guided biopsy can be adopted to confirm the diagnosis.

Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report

BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics.The cause of the disease is unknown.Through a literature review,we found that PIL and tuberous sclerosis complex(TSC)have some common symptoms and molecular pathways.CASE SUMMARY Here,we present the case of a patient with a three-year history of primary intestinal lymphangiectasia.The patient most recently visited the hospital with abdominal distension and swelling of the left leg.His mother told us that she was diagnosed with TSC one year previously,which alerted us because the patient had multiple regions of pigmentation.To evaluate the condition of the child and make a definite diagnosis,multiple imaging examinations were performed,as was TSC gene analysis.The results met the diagnostic criteria for TSC.The patient was discharged after symptomatic treatment.Through a review of the literature,it can be seen that changes at the molecular gene level of TSC can lead to abnormal lymphatic vessels.CONCLUSION In summary,when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL,TSC gene screening may be important for further diagnosis.

Tuberous sclerosis complex-lymphangioleiomyomatosis involving several visceral organs:A case report

BACKGROUND Lymphangioleiomyomatosis(LAM)is a rare cystic lung disease characterized by the proliferation,metastasis,and infiltration of smooth muscle cells in the lung and other tissues,which can be associated with tuberous sclerosis complex(TSC).The disorder of TSC has a variable expression,and there is great phenotypic variability.CASE SUMMARY A 32-year-old Chinese woman with a history of multiple renal angioleiomyolipoma presented with a productive cough persisting for over 2 wk.Highresolution chest computed tomography revealed interstitial changes,multiple pulmonary bullae,bilateral pulmonary nodules,and multiple fat density areas of the inferior mediastinum.Conventional and contrast ultrasonography revealed multiple high echogenic masses of the liver,kidneys,retroperitoneum,and inferior mediastinum.These masses were diagnosed as angiomyolipomas.Pathology through thoracoscopic lung biopsy confirmed LAM.Furthermore,high-throughput genome sequencing of peripheral blood DNA confirmed the presence of a heterozygous mutation,c.1831C>T(p.Arg611Trp),of the TSC2 gene.The patient was diagnosed with TSC-LAM.CONCLUSION We highlight a rare case of TSC-LAM and the first report of a mediastinum lymphangioleiomyoma associated with TSC-LAM.

Potential for treatment of severe autism in tuberous sclerosis complex

The Food and Drug Administration(FDA) has approved two mechanismbased treatments for tuberous sclero-sis complex(TSC)-everolimus and vigabatrin. However, these treatments have not been systematically studied in individuals with TSC and severe autism. The aim of this review is to identify the clinical features of severe autism in TSC, applicable preclinical models, and potential barriers that may warrant strategic planning in the design phase of clinical trial development. A comprehensive search strategy was formed and searched across Pub Med, Embase and SCOPUS from their inception to 2/21/12, 3/16/12, and 3/12/12 respectively. After the final search date, relevant, updated articles were selected from Pub Med abstracts generated electronically and emailed daily from Pub Med. The references of selected articles were searched, and relevant articles were selected. A search of clinicaltrials.gov was completed using the search term "TSC" and "tuberous sclerosis complex". Autism has been reported in as many as 60% of individuals with TSC; however, review of the literature revealed few data to support clear classification of the severity of autism in TSC. Variability was identified in the diagnostic approach, assessment of cognition, and functional outcome among the reviewed studies and case reports. Objective outcome measures were not used in many early studies; however, diffusion tensor imaging of white matter, neurophysiologic variability in infantile spasms, and cortical tuber subcategories were examined in recent studies and may be useful for objective classification of TSC in future studies. Mechanism-based treatments for TSC are currently available. However, this literature review revealed two potential barriers to successful design and implementation of clinical trials in individuals with severe autism-an unclear definition of the population and lack of validated outcome measures. Recent studies of objective outcome measures in TSC and further study of applicable preclinical models present an opportunity to overcome these barriers.

TSC2 Deletions and Duplications: A Descriptive Study in Iranian Patients Affected with Tuberous Sclerosis

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by formation of benign tumors called hamartomas. Although the TSC is diagnosed based on clinical findings but approximately 85% of individuals who meet diagnostic criteria for TSC a mutation can be identified in TSC2 (69%) and TSC1 (31%). A review of mutation type in TSC1 & TSC2 genes reveals that deletion/duplication assay could be a good screening strategy as a first step in TSC molecular diagnosis. All 41 exons and 5’ untranslated region of TSC2 gene in addition to adjacent PKD1 gene were screened for deletion/duplication in 81 patients DNA samples using multiplex ligation dependent probe amplification (MLPA) method. Deletion/duplication was found in 29 (35.8%) patients, including deletions in 26 (32.0%) patients and duplication in 3 (3.8%). Genotype/phenotype analysis, showed five patients with renal function impairment who have large deletions including PKD gene area. Approximately 65% of cases were sporadic, while the remaining have familial positive history. Deletions/duplications of TSC2 gene were seen in 35.8% of patients with TSC. So it could be concluded that MLPA is a useful testing strategy for molecular screening in sporadic forms of TSC patients. MLPA increased the detection of TSC mutations. MLPA is less expensive, quicker and more precise than direct sequencing and southern blot in the characterization of TSC deletions. This technique is recommended as a standard part of TSC clinical molecular diagnosis.

Tuberous Sclerosis Complex Associated with Autism Spectrum Features and Bumetanide as a Pharmacological Indication: A Case Report

A wide variety of genetic and non-genetic pathologies share serious psychiatric symptoms, which determine a poor quality of life for patients and their families. To evaluate whether bumetanide, a drug initially developed as a diuretic and currently analyzed for a new indication in patients with severe neuropsychiatric pathologies, could improve the disruptive and self-injurious behaviors secondary to Tuberous Sclerosis Complex (TSC) and characteristic of the autistic spectrum the case of this 6-year-old patient is considered. Following preclinical and clinical evidence of the efficacy of bumetanide in Tuberous Sclerosis and other neurodevelopmental disorders, the drug may alleviate the psychiatric manifestations (TAND) of Tuberous Sclerosis pathology. This would allow avoiding the excessive prescription of antipsychotic drugs indicated to control disruptive behaviors. Methodology: The Administración Nacional de Medicamentos, Alimentos y Tecnología Médica (ANMAT) approval was requested for compassionate use since it is not an approved drug in Argentina for this indication. The patient was evaluated with laboratory tests at T0, T1, T2, T3 and T4, corresponding to the basal moments, of 7 days, 30 days, 60 days and 90 days after starting the medication. Likewise, behavior was evaluated with the Aberrant Behavior Checklist (ABC) at the same times described. CARS was used for autistic characteristics and TAND Checklist for psychiatric disorders, both at the beginning. Bumetanide was administered at 1 mg/day and increased to 1.5 mg/day one month after the first dose. Results: We observed, in this case, the primary endpoint, irritability, showed moderate improvement. On the contrary, hyperactivity, attention, sociability and better connection through gaze experienced and evident improvement. Regarding isolation scales and stereotyped behaviors, an important improvement was found after 3 months of treatment with bumetanide, an antagonist NKCC1, evaluated through the Aberrant Behavior Checklist (ABC). On the other hand, no remarkable adverse effects were observed.

Tuberous sclerosis complex associated renal clear cell carcinoma(a case report and literature review)

Objective To explore the diagnosis and treatment features of tuberous sclerosis complex associated renal cell carcinoma. Methods A 22-year-old boy with a childhood history of epilepsy and mental retardation pres-

Tuberous sclerosis patient with neuroendocrine carcinoma of the esophagogastric junction:A case report

BACKGROUND Tuberous sclerosis complex(TSC)is a rare inherited disease with non-cancerous tumor growths in the skin,brain,kidneys,heart,and lungs.The co-occurrence of neuroendocrine neoplasm(NEN)with TSC is even rarer.There have been few reports on the relationship between TSC and neuroendocrine tumors(NETs),and fewer on the relationship between TSC and neuroendocrine carcinoma(NEC),a subtype of NEN.This is the first reported case of NEC occurring at the esophagogastric junction in a patient with TSC.CASE SUMMARY A 46-year-old woman visiting our hospital for the treatment of TSC was admitted to the emergency department with tarry stools and dizziness.Computed tomography scans revealed thickness of the gastric cardia,multiple metastatic lesions of the liver,and enlarged lymph nodes near the lesser curvature of the stomach.Esophagogastroduodenoscopy revealed a type 3 tumor located from the esophagogastric junction to the fundus,and the pathological diagnosis by biopsy was NEC.The patient was treated with seven courses of cisplatin+irinotecan,followed by eight courses of ramucirumab+nab-paclitaxel,one course of nivolumab,and two courses of S-1+oxaliplatin.Twenty-three months after the first treatment,the patient died because of disease progression and deterioration of the general condition.CONCLUSION This case of NEC occurring in a patient with TSC indicates a difference in the occurrence of NETs and NECs.

Modeling tuberous sclerosis complex with human induced pluripotent stem cells

Background Tuberous sclerosis complex(TSC)is an autosomal dominant genetic disorder with a birth incidence of I:6000 in the United States that is characterized by the growth of non-cancerous tumors in multiple organ systems including the brain,kidneys,lungs,and skin.Importantly,TSCis also associated with signicant neurological manifestations including epilepsy TSC-associated neuropsychiatric disorders,intellectual disabilities,and autism spectrum disorder.Mutations in the TSCI or TSC2 genes are well-established causes of TSC,which lead to TSC1/TSC2 deficiency in organs and hyper-activation of the mammalian target of rapamycin signaling pathway.Animal models have been widely used to study the effect of TSCl/2 genes on the development and function of the brain.Despite considerable progress in understanding the molecular mechanisms underlying TSC in animal models,a human-specific model is urgently needed to investigate the effects of TSCl/2 mutations that are unique to human neurodevelopment.Data sources Literature reviews and research articles were published in PubMed-indexed journals.Results Human-induced pluripotent stem cells(iPSCs),which capture risk alleles that are identical to their donors and have the capacity to differentiate into virtually any cell type in the human body,pave the way for the empirical study of previously inaccessible biological systems such as the developing human brain.Conclusions In this review,we present an overview of the recent progress in modeling TSC with human iPSC models,the existing limitations,and potential directions for future research.

抑癌基因TSC2相关蛋白tuberin在肺癌组织中表达及临床意义的初步研究

目的通过检测TSC2编码蛋白tuberin在肺癌组织和相应正常肺组织中的表达水平,初步探讨其与临床病理特征的关系。方法收集肺癌组织标本及相应癌旁正常肺组织标本各60例,Western-Blot法检测标本中tuberin和β-actin蛋白含量,采用凝胶成像分析系统测定tuberin带与β-actin带的灰度值,以比值表示TSC2蛋白表达水平,比值大则表明组织中TSC2表达高。结果60例肺癌组织标本中,tuberin阳性表达率为40.0%(24例),相应癌旁正常组织tuberin阳性表达率为93.3%(58例),二者差异有统计学意义(μ=6.278,P<0.01)。肺癌组织中tuberin阳性表达的患者,其正常肺黏膜组织tuberin均呈阳性表达;且肺癌组织tuberin表达水平较相应正常肺黏膜组织降低,二者差异有统计学意义(t=3.766,P<0.05)。Tuberin的表达水平及表达阳性率与患者年龄、性别、肺癌病理类型、分化程度、肿瘤大小、淋巴结转移无关。结论Tuberin的表达水平及表达阳性率与肺癌发生密切相关。

新发TSC2基因位点突变致儿童结节性硬化症并色素脱斑相关癫痫

结节性硬化症(tuberous sclerosis complex,TSC)是一种常染色体显性遗传的神经皮肤综合征,以累及多个器官系统为特点。TSC1和TSC2是TSC两个主要的致病基因,二者中任一基因的突变可导致蛋白质结构变化从而导致功能改变,最终表现为TSC的各种临床表型。目前,已有多个TSC相关的TSC2和TSC1位点突变被发现。然而,临床接诊过程中,我们收治了1例尚未见报道的TSC2基因c.4569+1G>T杂合突变相关的癫痫发作伴色素脱斑的儿童TSC,在此予以报道,以期为TSC相关疾病的临床诊断及研究提供线索。

A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex

Tuberous sclerosis complex(TSC)is a dominant genetic neurocutaneous syndrome characterized by multiple organ hamartomas.Although rodent models bearing a germline mutation in either TSC1 or TSC2 gene have been generated,they do not develop pathogenic lesions matching those seen in patients with TSC because of the significant differences between mice and humans,highlighting the need for an improved large animal model of TSC.Here,we successfully generate monoallelic TSC1-modified Bama miniature pigs using the CRISPR/Cas9 system along with somatic cell nuclear transfer(SCNT)technology.The expression of phosphorylated target ribosomal protein S6 is significantly enhanced in the piglets,indicating that disruption of a TSC1 allele activate the mechanistic target of rapamycin(mTOR)signaling pathway.Notably,differing from the mouse TSC models reported previously,the TSC1^(+/−)Bama miniature pig developed cardiac rhabdomyoma and subependymal nodules,resembling the major clinical features that occur in patients with TSC.These TSC1^(+/−)Bama miniature pigs could serve as valuable large animal models for further elucidation of the pathogenesis of TSC and the development of therapeutic strategies for TSC disease.

Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation

To the Editor:Tuberous sclerosis complex (TSC),with the birth incidence of 1:6000,[1] is an autosomal dominant inherited,multi-system disorder characterized by cellular hyperplasia and tissue dysplasia,among which,renal angiomyolipoma (AML) is one common comorbidity.However,malignancy of renal AML is rare.Herein,we shared a case of malignancy of renal AML from TSC in a young man.

1例伴TSC2嵌合突变的结节性硬化症并多发血管平滑肌脂肪瘤的诊断及治疗

目的探讨结节性硬化症(TSC)相关肝血管平滑肌脂肪瘤(AML)、肾AML患者的诊断、治疗及病程中基因诊断的局限性和多学科诊疗的重要性。方法基于1例患者详尽的临床资料,依托多学科会诊,对病程中多次基因检测结果进行深入分析,明确诊断后给予药物治疗并评价疗效。患者为31岁男性,患有肝、肾多发不典型AML 12年,同时检查发现鼻部及口周血管纤维瘤、臀部鲨革斑、头部MRI提示皮层发育不良、牙釉质缺损史等多系统表现,多年来仅以反复AML切除术为主要治疗方法。为进一步确认患者的基因突变特征及明确诊断,进行了深入基因分析。结果经深入基因分析发现,外周血和肿瘤组织中分别存在突变丰度4.04%和10.38%的TSC2 c.2353C>T(p.Gln785*)突变,考虑在胚胎发育阶段出现生殖细胞嵌合突变可能。诊断为AML合并TSC。给予患者mTOR抑制剂依维莫司治疗1年,经复查患者肾多发AML病灶较前显著缩小,疗效达到部分缓解。结论AML患者需警惕是否合并TSC。诊断TSC时,低丰度的胚系突变需深入分析。mTOR抑制剂可作为TSC-AML患者治疗的选择。

大黄素调控树突状细胞Tsc1/mTORC1通路对Th1/Th2细胞极化治疗脓毒症的影响

目的探讨大黄素(Emo)调控树突状细胞结节性硬化症复合体1(Tsc1)/哺乳动物雷帕霉素靶蛋白复合物1(mTORC1)通路对Th1/Th2细胞极化治疗脓毒症的影响。方法将小鼠分对照组、模型组(采用盲肠结扎和穿刺法构建小鼠脓毒症模型)、模型+Emo组;采用脂多糖(LPS)构建树突状细胞(通过小鼠股骨骨髓获取)脓毒症模型,分为对照组、LPS组、LPS+Emo组;采用Transwell构建树突状细胞与CD4^(+)T细胞(通过腹腔灌洗液获取)共培养体系,分为LPS组、LPS+Emo组、LPS+Emo+sh-NC组、LPS+Emo+sh-Tsc1组细胞;采用HE染色观察各组小鼠心、肺、肝组织损伤情况;采用流式细胞术分离CD4^(+)T细胞,以及检测Th1和Th2细胞分化情况;采用ELISA法检测小鼠血清中TNF-α和IL-1β的表达情况以及小鼠脾脏和树突状细胞培养上清液中IL-12和IL-4的表达情况;采用Western blot法检测各组小鼠脾脏和各组树突状细胞中Tsc1和mTORC1信号通路关键蛋白(S6、pS6)的表达情况。结果小鼠体内模型中,与对照组相比,模型组小鼠心、肝、肺显著损伤,脾脏中TNF-α和IL-1β表达显著升高,Th1/Th2细胞比例显著升高,Tsc1蛋白表达显著降低,S6蛋白磷酸化水平显著增高;与模型组相比,模型+Emo组小鼠心、肝、肺组织损伤部分恢复,脾脏中TNF-α和IL-1β表达显著降低,Th1/Th2细胞比例显著降低,Tsc1蛋白表达显著升高,S6蛋白磷酸化水平显著降低。体外树突状细胞模型中,与LPS组相比,LPS+Emo组细胞培养上清液中Tsc1蛋白表达升高,pS6蛋白表达降低,IL-12和IL-4表达显著降低,Th1/Th2细胞比例显著降低;抑制Tcs1表达后,与LPS+Emo+sh-NC组相比,LPS+Emo+sh-Tsc1组细胞培养上清液中IL-12和IL-4表达显著升高,Tsc1蛋白表达降低,pS6蛋白表达升高,Th1/Th2细胞比例显著升高。结论Emo对脓毒症有明显的治疗作用,其作用机制可能为通过调控树突状细胞中Tsc1/mTORC1通路,影响树突状细胞分泌T细胞极化因子IL-12和IL-4,从而影响Th1/Th2细胞极化以治疗脓毒症。

Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex

Background： A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex （TSC）. The aim of the present study was to compare the color fundus photography, infrared imaging （IFG）, and optical coherence tomography （OCT） in the detection rate of retinal hamartoma in patients with TSC. Methods： This study included 11 patients （22 eyes） with TSC, who underwent color fundus photography, IFG, and spectral-domain OCT to detect retinal hamartomas. TSC1 and TSC2 mutations were tested in eight patients. Results： The mean age of the 11 patients was 8.0 ± 2.1 years. The mean spherical equivalent was -0.55 ±1.42 D by autorefraction with cycloplegia. In 11 patients （22 eyes）, OCT, infrared fundus photography, and color fundus photography revealed 26, 18, and 9 hamartomas, respectively. The predominant hamartoma was type I （55.6%）. All the hamartomas that detected by color fundus photography or IFG can be detected by OCT. Conclusion： Among the methods of color fundus photography, IFG, and OCT, the OCT has higher detection rate for retinal hamartoma in TSC patients; therefore, OCT might be promising for the clinical diagnosis of TSC.