中华眼底病杂志最新文献

{"title":"The macular vascular density and the area of foveal avascular zone in the follow eyes of monocular retinal vein occlusion patients","authors":"Bi-bo Fu, Xiao-ling Chen, Bo Ye, Yin-Cheng Huang","doi":"10.3760/CMA.J.CN511434-20190103-00004","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20190103-00004","url":null,"abstract":"Objective \u0000To observe the macular vascular density and the area of foveal avascular zone(FAZ) in the follow eyes of monocular retinal vein occlusion (RVO) patients. \u0000 \u0000 \u0000Methods \u0000Retrospective case-control study. From May to November 2018, 78 follow eyes of 78 monocular RVO patients who were clinically diagnosed in Changsha Aier Eye Hospital were included in the study. Among them, 44 were male and 34 were female. The average age was 53.17±10.12 years. There were 42 patients with central retinal vein occlusion(CRVO group) and 36 patients with branch retinal vein occlusion (BRVO group). Forty-two eyes of 33 gender and age matched healthy volunteers were selected as the control group. Among them, 17 were male (22 eyes) and 16 were female (20 eyes), with the mean age of 53.48±10.84 years. OCT angiography was performed on all eyes in CRVO group, BRVO group and control group. The scanning region in the macular area was 6 mm× 6 mm. Macular vascular density and FAZ area in the superficial and deep retinal capillary plexi were measured. \u0000 \u0000 \u0000Results \u0000The mean overall vascular density measured in the entire scan was lower in the CRVO group(t=-4.26, -4.93) and BRVO group (t=-4.79, -4.74) compared with the control group in both the superficial and deep capillary plexus (P 0.05). \u0000 \u0000 \u0000Conclusions \u0000The macular vascular density in the follow eyes of monocular RVO patients is lower than that of normal healthy eyes. The reduce degree of vascular density in the deep capillary plexus is higher than that in the superficial plexus. Compared with normal healthy eyes, the FAZ area in the follow eyes of monocular CRVO patients decreased, while it did not change significantly in the follow eyes of monocular BRVO patients. \u0000 \u0000 \u0000Key words: \u0000Retinal vein occlusion; Regional blood flow; Tomographyoptical coherence","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"285-288"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42244751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Central nervous system vascular diseases in ophthalmology clinic","authors":"L. Gan, Y. Zhong","doi":"10.3760/CMA.J.CN511434-20200303-00089","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20200303-00089","url":null,"abstract":"Central nervous system vascular disease can be combined with a variety of ocular signs, such as orbital pain, flash, visual field defects, vision loss, eye muscle paralysis. Therefore, some patients were first diagnosed in ophthalmology, including aneurysm rupture, arterial dissection, cerebral apoplexy and other critical nervous system diseases that need rapid treatment. If the doctors didn't know enough, the diagnosis and treatment might be delayed. Most of the vascular diseases of the central nervous system related to ophthalmology have clinical manifestations that cannot be explained by ophthalmology. In the face of chronic conjunctivitis, unexplained visual field defect or cranial nerve paralysis with local ineffective treatment, it is necessary to broaden the thinking of differential diagnosis. To understand the characteristics of vascular diseases of the central nervous system that are prone to ocular manifestations can provide references for the clinical diagnosis and treatment of ophthalmology. \u0000 \u0000Key words: \u0000Central nervous system diseases; Intracranial aneurysm; Carotid-cavernous sinus fistula; Intracranial hypertension; Review","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"315-318"},"PeriodicalIF":0.0,"publicationDate":"2020-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42325517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances of Usher syndrome and USH2A gene","authors":"Xiang Meng, T. Guo","doi":"10.3760/CMA.J.CN511434-20190123-00028","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20190123-00028","url":null,"abstract":"Usher syndrome (USH) is the most common cause of deaf-blindness diseases characterized by sensorineural hearing loss and retinitis pigmentosa. Patients are clinically and genetically heterogeneous, however, there are no convincing methods for prevention and treatment. USH2A is the most common disease-causing gene among 14 genes related to Usher syndrome. Great progress has been achieved in the pathogenic mechanism, animal models studies, diagnosis, and treatments based on gene therapy, cells transplantation and antisense oligonucleotide-based splice correction. Mutations in USH2A result in defects in USH complex proteins which involved in the transport function of the peripheral cilia region. There is respective limitations in established mouse and zebrafish animal models. Two promising treatments of this disease are introduced. One is clinical transplantation of visual organs which induced from corrected patient-derived induced pluripotent stem cells by the CRISPR/Cas9 system and another one is the RNA splicing therapy based on antisense oligonucleotides. \u0000 \u0000 \u0000Key words: \u0000Usher syndromes/genetics; Usher syndromes/etiology; Genes; Mutation; Review","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"236-241"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47820552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of USH2A gene mutation and clinical phenotype in families with Usher syndrome type 2 and retinitis pigmentosa","authors":"Xiaomeng Shi, Ya Li, Kunpeng Xie, Y. You","doi":"10.3760/CMA.J.CN511434-20190912-00286","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20190912-00286","url":null,"abstract":"Objective \u0000To observe the gene mutations and clinical phenotypes in patients with Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP). \u0000 \u0000 \u0000Methods \u0000From August 2018 to January 2019, 4 patients and 11 normal family members from 3 families of USH2 and RP who visited Henan Eye Hospital were enrolled in the study. Detailed medical history was obtained and visual acuity, fundus color photography, OCT, visual field, full field ERG examination were performed. Among the three families, pedigree 1 was diagnosed with USH2, pedigree 2 and pedigree 3 were diagnosed with RP. The peripheral venous blood of patients and their family members were collected, and the whole genomic DNA was extracted. Targeted capture next generation sequencing analysis was performed on these members, and Sanger sequencing and family cosegregation were verified. \u0000 \u0000 \u0000Results \u0000In the family F1, the proband had symptoms of RP and sensorineural deafness. Sequencing revealed two heterozygous frameshift variants: c.13877-13880 del AGAC (p. Q4626P) in exon 64 and c.798 del T (p. F266L) in exon 5 of USH2A. Both patients of family 2 and 3 showed RP signs without deafness. Two heterozygous variants c.15178T> C (p. S5060 P) in exon 70 and c.6986C> A (p. P2329H) in exon 37, and a pathogenic heterozygous variant c.5836C> T (p. R1946X) in exon 29 of USH2A were identified in family F2. A heterozygous missense variant c.14951C> T (p. P4984L) in exon 68 and a variant c.11156G> A (p. R3719H) in exon 57 of USH2A were found in family F3. The results of conservation analysis showed that the corresponding amino acid sites of USH2A p.Q4626P, p.F266L, p.S5060P, p.P2329H and p.P4984L were highly conserved in many species. Among these 7 pathogenic variants detected, M1-M4 and M6 were novel. \u0000 \u0000 \u0000Conclusions \u0000Mutation USH2A gene are the main cause of USH2 and non-syndromic RP. Different variants affect protein translation and synthesis, consequently causing different clinical phenotypes. \u0000 \u0000 \u0000Key words: \u0000Usher syndromes; Retinitis pigmentosa; Genes, recessive; Mutation","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"178-183"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46906573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New advances in gene therapy with adenoviral vectors for inherited retinal diseases","authors":"Kejiong Shen","doi":"10.3760/CMA.J.CN511434-20190705-00214","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20190705-00214","url":null,"abstract":"Adeno-associated viral vector (AAV) is the most important viral tool and has been widely used in gene therapy. Because of its small size, non-enveloped, non-pathogenic and other characteristics, so it is one of the main means to treat hereditary retinal diseases. Aiming at MERTK for retinitis pigmentosa, ND4 for Leber hereditary optic neuropathy or RPE1 for choroideremia, AAV gene therapy improved half patients' visual acuity in clinic tests. Besides, there are some clinic tests in progress for Leber’s congenital amaurosis, X-linked retinoschisis, Achromatopsia, age-related macular degeneration. But more researches need to be found before clinic test for Stargardt disease, Usher syndrome and nanophthalmos. At present, AAV gene therapy is mainly used for recessive hereditary retinal diseases, and technology is needed to intervene for dominant retinal diseases. For the treatment of hereditary retinal diseases, this will be an important and complex systematic project, which requires more human and material resources to participate in and study together, and we expect to have a great breakthrough in the near future. \u0000 \u0000 \u0000Key words: \u0000Retinal diseases/genetics; Gene therapy; Review; Adeno-associated virus","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"242-248"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42422133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between tumor necrosis factor-α and retinopathy of prematurity","authors":"Zhenquan Wu, Lei Zheng, Jian Zeng","doi":"10.3760/CMA.J.CN511434-20180408-00106","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20180408-00106","url":null,"abstract":"The exact pathophysiological mechanisms of retinopathy of prematurity (ROP) remain elusive. The risk factors of ROP include excessive oxygen therapy, malnutrition, infection and inflammation. Among the factors above, the effect of inflammation on ROP has received more attention. TNF-α is a biological active protein which is involved in neovascularization and inflammation. It may play a role in the development of ROP. This review summarized the studies on the association between TNF-α and ROP in recent years, so as to provide a new way to further study the pathogenesis and treatment methods of ROP. \u0000 \u0000 \u0000Key words: \u0000Retinopathy of prematurity/etiology; Tumor necrosis factor-alpha; Review","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"249-252"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43848406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The changes of retinal capillary after anti-vascular endothelial growth factor therapy in patients with macular edema associated with retinal vein occlusion","authors":"Jin Li","doi":"10.3760/CMA.J.CN511434-20180427-00282","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20180427-00282","url":null,"abstract":"At present, intravitreal injections of anti-VEGF agents is the main method for the treatment of macular edema secondary to retinal vein occlusion (RVO), which can significantly inhibit neovascularization, release macular edema and improve the vision of patients. However, VEGF is a survival factor of vascular endothelial cells, whether it can lead to the progress of retinal ischemia and it has an effect on retinal capillaries deserves our clinical attention. Most scholars currently think that the anti-VEGF agents will not aggravate the occlusion of retinal capillaries in the treatment of macular edema secondary to RVO from the aspects of the changes of perifoveal capillary arcade, the quantification of foveal avascular zone area, retinal nonperfusion area and retinal vascular density of the superficial and deep capillary plexus In addition, the changes of these indicators may be related to the number of times patients need treatment, visual prognosis and so on. In the future, with the gradual popularization of OCT angiography and the prolongation of the number and time of anti VEGF drug treatment, we look forward to the study of larger samples and longer follow-up time to further analyze the influence of the retinal capillary after anti-VEGF therapy in patients with macular edema associated with RVO. \u0000 \u0000 \u0000Key words: \u0000Retinal vein occlusion/complications; Macular edema/drug therapy; Angiogenesis inhibitors/therapeutic use; Capillaries; Review","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"253-255"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44884628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel mutations of RPGRIP1 gene in a family with Leber congenital amaurosis","authors":"He Tang, Haiying Peng, Pingling Shi, Zhongqiang Zhou, Yuanmeng Wei, Miao Li, Ying Liang, X. Nie","doi":"10.3760/CMA.J.CN511434-20191008-00315","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20191008-00315","url":null,"abstract":"Objective \u0000To identify the pathogenic gene mutations in a family with Leber congenital amaurosis (LCA). \u0000 \u0000 \u0000Methods \u0000In October 2018, 1 patient and 3 normal family members from a LCA family was enrolled in this retrospective study. Detailed medical history of proband was obtained and fixation test, cycloplegic refraction, slit-lamp, fundus color photography and full-field ERG were performed. And other family members underwent BCVA, refraction slit-lamp, fundus biomicroscopy with the slit lamp, fundus color photography and full-field ERG. The family was investigated with a specific hereditary eye disease enrichment panel which contained 441 known pathogenic genes and based on targeted exome capture technology first to indentify the potential pathogenic genes and mutations. Then the potential pathogenic mutations were conformed by Sanger sequencing. Finally, the results were analyzed via bioinformatics analysis. \u0000 \u0000 \u0000Results \u0000The proband showed no trace object from childhood, but had obvious photophobia and nystagmus. No positive changes were found in the anterior segment, vitreous and retina in both eyes. Both cone and rod system function decreased significantly in full-field ERG in both eyes. Gene tests showed the proband carried both RPGRIP1 c.1635dupA and c.3565C> T, which composited a heterozygous mutation. Bioinformatics analysis showed RPGRIP1 c.1635dupA was a pathogenic mutation, and RPGRIP1 c.3565C> T which was a novel potential pathogenic mutation in LCA. \u0000 \u0000 \u0000Conclusion \u0000The compound heterozygous mutation, c.1635dupA and c.3565C> T in RPGRIP1 may be responsible for the pathogenesis in this Chinese Han LCA pedigree. \u0000 \u0000 \u0000Key words: \u0000Leber congenital amaurosis/etiology; Genes; Mutation; RPGRIP1 gene","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"196-199"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47610024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patching retinal breaks with Healaflow in 27G vitrectomy in the treatment of rhegmatogenous retinal detachment","authors":"X. Ren, C. Zheng, D. Wen, Yifeng Ke","doi":"10.3760/CMA.J.CN511434-20190729-00239","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20190729-00239","url":null,"abstract":"Objective \u0000To observe the safety and effectiveness of patching retinal breaks with Healaflow in 27G vitrectomy combined with air tamponade in the treatment of rhegmatogenous retinal detachment (RRD). \u0000 \u0000 \u0000Methods \u0000Clinical-based prospective continuous study. From March 2017 to May 2018, 51 eyes of 50 RRD patients diagnosed in Tianjin Medical University Eye Hospital were included in the study. All eyes were treated with 27G vitrectomy, and laser photocoagulation was performed around retinal hiatus and denaturation zone after complete retinal reattachment. A blunt 27G needle was used to completely cover the surface of the retinal tear with the Healaflow. The injection amount was determined according to the size of the retinal tear, and the standard was that the tear was completely contained. There was no postoperative position limitation. The average follow-up was 15.8±6.3 months. The primary and final anatomic attachment rate, BCVA after operation, the intraoperative and postoperative complications, the recurrence of retinal detachment and so on were recorded. \u0000 \u0000 \u0000Results \u000051 eyes of 50 patients were enrolled, including 29 males (58.0%) and 21 females (42.0%). The average age was 58.5±1 years. A single break was present in 28 eyes (54.9%) and 2 to 5 breaks in 23 eyes (45.1%). The macula was involved in 32 eyes (62.7%) and attached in 19 eyes (37.3%) intraoperatively. Initial reattachment was achieved in 50 eyes (98.0%) and final reattachment in 51 eyes (100.0%). The logMAR BCVA before and 3 months after operation were 0.95±0.80 and 0.22±0.17, respectively. The difference of logMAR BCVA between before and after operation was significant (t=7.336, P<0.001). The intraocular pressure was elevated transiently in 31 eyes (60.8%). No other complications occurred during follow-up. \u0000 \u0000 \u0000Conclusion \u0000The treatment of primary RRD with 27G vitrectomy combined with Healaflow patch and air tamponade is a safe, effective and convenient method with high success rate and rapid recovery of visual function. \u0000 \u0000 \u0000Key words: \u0000Retinal detachment/surgery; Retinal perforations/surgery; Vitrectomy","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"200-204"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43898765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cohort study of genotype and clinical phenotype in 34 families with familial exudative vitreoretinopathy","authors":"Chunli Chen, Peiquan Zhao, Xiaorong Li","doi":"10.3760/CMA.J.CN511434-20190729-00240","DOIUrl":"https://doi.org/10.3760/CMA.J.CN511434-20190729-00240","url":null,"abstract":"Objective \u0000To observe and analyze the genotype and clinical phenotype in 34 families of familial exudative vitreoretinopathy associated with (FEVR) gene variation. \u0000 \u0000 \u0000Methods \u0000Cohort study. Thirty-four FEVR families, in which the patients and both of their parents were all found to have FEVR-related gene mutations (proband 34 cases, 67 eyes; parents 68 cases, 136 eyes), were included in the study. These patients were identifIed from 722 FEVR patients through genetic screening, which diagnosed in Department of Ophtalmology of Xinhua Hospital and Tianjin Medical University Eye Hospital from January 2010 to December 2018. The probands and their parents underwent a comprehensive ophthalmological examination appropriate to their age, including BCVA, intraocular pressure, axial length, slit lamp examination, indirect ophthalmoscopy, FFA or color fundus photography or wide field color fundus photography. According to the severity of the disease, the clinical manifestations were divided into severe phenotype and mild phenotype. Thirty-four normal healthy people over 40 years old were included as the control group. The peripheral blood samples of FEVR family members and control group members were collected, and the genes known to be involved in FEVR, such as FZD4, LRP5, NDP, TSPAN12, ZNF408 and KIF11, were analyzed by next generation sequencing molecular genetics. The data were statistically analyzed by SPSS. The counting data was expressed in numbers or rates, and tested by Kruskal-Wallis test and χ2 test to find out the existence of significant difference. \u0000 \u0000 \u0000Results \u0000In 67 eyes of the 34 probands, 48 eyes (71.64%) were classified into severe phenotype and 19 eyes (28.36%) were mild phenotype. In 136 eyes of 68 parents of the proband patients, 76 eyes (55.88%) were normal, 60 eyes (44.12%) were classified into mild phenotype, and no severe phenotype was found. A total of 65 variants of FEVR-related genes were detected in the 34 probands, of which LRP5 mutation was the most common (64.61 %), followed by FZD4 (12.31%), NDP (10.77%), TSPAN12 (6.15%), ZNF408 (4.62%) and KIF11 (1.54%). Missense mutations were the most common variant in FEVR-related genes. However, the results of correlation analysis indicated that there was no significant correlation between the type of mutation and the severity of clinical phenotype (H=1.775, P=0.620). Among the 65 mutation types, 21 types have been previously identified and 44 were novel in this study. Thirty-nine eyes of 20 cases had only one single pathogenic mutation gene but with multiple mutation sites, 26 eyes of 13 cases carried 2 relevant pathogenic mutation genes, and 2 eyes in one case had 3 pathogenic mutation genes. The mutation frequencies of LRP5, NDP, ZNF408, FZD4, TSPAN12 and KIF11 genes in probands were significantly higher than those in control group, and the difference was statistically significant. The total mutation frequencies of LRP5, NDP, ZNF408, FZD4, TSPAN12 and KIF11 genes in proband group we","PeriodicalId":10103,"journal":{"name":"Chinese Journal of Ocular Fundus Diseases","volume":"36 1","pages":"184-191"},"PeriodicalIF":0.0,"publicationDate":"2020-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41867251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}