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1.
Chinese Journal of Experimental Ophthalmology ; (12): 568-575, 2023.
Article in Chinese | WPRIM | ID: wpr-990883

ABSTRACT

Objective:To evaluate the distribution characteristics of choroidal vascularity index (CVI) in macula among normal children using swept-source optical coherence tomography (SS-OCT), and to investigate the influencing factors.Methods:A cross-sectional study was conducted.Sixty-three children aged 6 to 12 years were enrolled in The First Affiliated Hospital of Zhengzhou University from May 2021 to November 2021.Spherical equivalent refraction, axial length (AL) and other ocular biological parameters were measured.Macula-centered CVI and choroidal thickness (ChT) were measured by SS-OCT angiography.According to the ETDRS partition, the obtained image was divided into macular central fovea (0-1 mm diameter), inner ring (1-3 mm diameter) and outer ring (3-6 mm diameter) zones.Data from the right eye were selected for statistical analysis.CVI in the three rings and four zones (superior, temporal, inferior and nasal zones) of the inner and outer rings were compared.Univariate and multiple linear regression analyses were used to analyze the correlation between CVI and sex, AL, anterior chamber depth (ACD), ChT and pupil diameter.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of The First Affiliated Hospital of Zhengzhou University (No.2021-KY-0399-003). Written informed consent was obtained from each guardian.Results:The average CVI in the macular central fovea, inner ring and outer ring were 0.35±0.12, 0.32±0.10 and 0.27±0.08, respectively, with a significant difference ( F=10.96, P<0.001), and significant differences in CVI were found in pairwise comparisons of the three ring zones (all at P<0.05). Significant differences in CVI were found among superior, temporal, inferior and nasal zones in inner and outer rings ( Fring=11.60, P=0.001; Fzone=12.02, P<0.05). The CVI was smaller in superior and nasal zones in inner ring than in temporal zone, greater in superior, temporal and inferior zones in outer ring than in nasal zone, smaller in superior zone of outer ring than that of the inner ring, and the differences were statistically significant (all at P<0.001). The single factor linear regression analysis showed that ChT in the fovea, inner ring and outer ring were the influencing factors of CVI in the three ring zones (all at β=0.001, P<0.001). Pupil diameter ( β=0.034, P=0.038; β=0.040, P=0.003; β=0.024, P=0.011) and ACD ( β=0.097, P=0.034; β=0.097, P=0.013; β=0.061, P=0.032) were the influencing factors of CVI in fovea, inner ring and outer ring.After multiple linear regression analysis, the regression equations were established as follows: CVI in the macular fovea=0.001×ChT in the macular fovea + 0.001×ChT in the inner ring+ 0.001×ChT in the outer ring-0.301 ( R2=0.514, F=6.875, P<0.001); CVI in the inner ring=0.001×ChT in the macular fovea+ 0.001×ChT in the inner ring+ 0.001×ChT in the outer ring+ 0.088×AL-0.307 ( R2=0.603, F=9.870, P<0.001); CVI in the outer ring=0.001×ChT in the macular fovea+ 0.001×ChT in the inner ring+ 0.001×ChT in the outer ring-0.135 ( R2=0.601, F=9.781, P<0.001). Conclusions:In children aged 6-12 years old, the CVI is higher in the macular central fovea than in inner and outer rings, and the CVI in nasal zone is the smallest in both inner and outer rings.The thicker the ChT, the higher the CVI in all zones in the macular area; the deeper the anterior chamber, the higher the CVI in the inner ring.

2.
Chinese Journal of Ocular Fundus Diseases ; (6): 307-311, 2023.
Article in Chinese | WPRIM | ID: wpr-995629

ABSTRACT

Objective:To observe the anastomotic status of the vortex veins in patients with central serous chorioretinopathy (CSC).Methods:A cross-sectional study of clinical practice. From July 2021 to July 2022, 50 cases (50 eyes) of monocular CSC patients diagnosed through ophthalmic examination at the First Affiliated Hospital of Zhengzhou University were included in the study. Among them, there were 37 males (74.0%, 37/50) and 13 females (26.0%, 13/50), with the mean age of (44.30±9.59) years old. The course of disease from the onset of symptoms to the time of treatment was less than 3 months. The affected eye and contralateral eye of CSC patients were divided into the affected eye group and contralateral eye group, respectively. Fifty healthy volunteers of the same age and gender were selected as the normal control group with 50 eyes. The macular area scanning source optical coherence tomography (OCT) vascular imaging examination was performed with Visual Microimaging (Henan) Technology Co., Ltd. VG200D. Horizontal watershed vortex veins anastomosis rate and asymmetric vortex-venous dilation rate were observed by en face OCT. The device comes with software to calculate the central foveal choroidal thickness (SFCT), mean choroidal thickness (MCT), and choroidal vascular index (CVI). One-way analysis of variance and χ2 test were used to compare the three groups. When variances were unequal between groups, nonparametric tests were performed. Results:The SFCT values of the affected eye group, contralateral eye group, and normal control group were (567.12±129.02), (513.26±133.17), (327.64±97.40) μm, respectively; MCT were (407.38±97.54), (388.24±94.13), (275.46±60.55) μm, respectively; CVI were 0.34±0.05, 0.32±0.04, and 0.27±0.04, respectively; anastomosis rates of vortex veins were 98% (49/50), 78% (39/50), and 40% (20/50), respectively; asymmetric dilation rates of vortex veins were 96% (48/50), 88% (44/50), and 48% (24/50), respectively. The differences of SFCT ( F=53.974), MCT ( Z=51.415), CVI ( F=28.082), vortex vein anastomosis rate ( χ2=43.056), asymmetric dilation rate of vortex veins ( χ2=37.728) among three groups were statistically significant ( P<0.001). Compared with the contralateral eye group, the SFCT, MCT, CVI, vortex vein anastomosis rate, and vortex vein asymmetric dilation rate in the affected eye group were significantly higher than those in the contralateral eye group. Among them, the differences of SFCT ( t=2.054), CVI ( t=2.211), and vortex vein anastomosis rate ( χ2=9.470) were statistically significant ( P<0.05); the differences of MCT ( Z=7.490), asymmetric dilation rate of vortex veins ( χ2=2.714) were not statistically significant ( P=1.000, 0.140). Conclusions:SFCT, MCT, and CVI in the affected and contralateral eyes of monocular CSC patients significantly increase. The anastomotic rate and asymmetric dilation rate of the vortex vein in the opposite eye were lower than those in the affected eye.

3.
Chinese Journal of Ocular Fundus Diseases ; (6): 290-296, 2023.
Article in Chinese | WPRIM | ID: wpr-995627

ABSTRACT

Objective:To quantitatively evaluate the changes of choroidal biomarkers in patients with central serous chorioretinopathy (CSC) and preliminarily explore its pathogenesis.Methods:Clinical cross-sectional study. From July 2021 to December 2022, 74 eyes of 65 patients with CSC (CSC group) confirmed by ophthalmic examination at the First Affiliated Hospital of Zhengzhou University were included in the study. Among them, 46 patients (51 eyes) were male, 19 patients (23 eyes) were female. The duration from the onset of symptoms to the time of treatment was less than or equal to 3 months. A control group consisted of 40 healthy volunteers (74 eyes) matched in age and gender. Among them, 26 patients (50 eyes) were male, and 14 patients (24 eyes) were female. Using VG200D from Microimaging (Henan) Technology Co., Ltd., macular scanning source light coherence tomography angiography was performed, with scanning range 6 mm × 6 mm. According to the division of the diabetes retinopathy treatment research group, the choroid within 6 mm of the macular fovea was divided into three concentric circles centered on the macular fovea, namely, the central area with a diameter of 1 mm, the macular area with a diameter of 1-3 mm, and the surrounding area of the fovea with a diameter of 3-6 mm. The device comes with software to record the three-dimensional choroidal vascular index (CVI), choroidal vascular volume (CVV), perfusion area of the choroidal capillary layer (CFA), choroidal thickness (CT), and three-dimensional CVI, CVV, and CT in the upper, temporal, lower, and subnasal quadrants within 6 mm of the fovea. Quantitative data between the two groups were compared using an independent sample t-test. Qualitative data comparison line χ2 inspection. The value of receiver operating curve (ROC) analysis in predicting the occurrence of CSC, including CVI, CVV, CFA, and CT. Results:Compared with the control group, the CVI ( t=3.133, 4.814), CVV ( t=7.504, 9.248), and CT ( t=10.557, 10.760) in the central and macular regions of the affected eyes in the CSC group significantly increased, while the CFA ( t=-8.206, -5.065) significantly decreased, with statistically significant differences ( P<0.05); CVI ( t=7.129), CVV ( t=10.020), and CT ( t=10.488) significantly increased within 6 mm of the central fovea, while CFA ( t=-2.548) significantly decreased, with statistically significant differences ( P<0.05). The CVI ( t=4.980, 4.201, 4.716, 8.491), CVV ( t=9.014, 7.156, 7.719, 10.730), and CT ( t=10.077, 8.700, 8.960, 11.704) in the upper, temporal, lower, and lower nasal quadrants within 6 mm of the central fovea were significantly increased, with statistically significant differences ( P<0.05). In the CSC group, the maximum CVI and CVV were (0.39±0.10)% and (1.09±0.42) mm 3, respectively, on the nasal side of the affected eye. Upper CT was (476.02±100.89) μm. The nasal side CVI, CVV, and CT have the largest changes. The ROC curve analysis results showed that the area under the curve of CT, CVV, and CVI within 6 mm of the central region, macular region, and fovea was over than 0.5. Subcentral CT was the most specific for the diagnosis of CSC. Conclusion:Choroidal biomarkers CVI, CVV, and CT in CSC patients increase, while CFA decreases. Central CT is the most specific for the diagnosis of CSC.

4.
Chinese Journal of Ocular Fundus Diseases ; (6): 755-761, 2022.
Article in Chinese | WPRIM | ID: wpr-958519

ABSTRACT

Objective:To observe and analyze the macular choroidal thickness and choroidal blood perfusion (CBP) in eyes with idiopathic macular hole (IMH) and their correlation.Methods:A cross-sectional observational clinical study. From March 2019 to October 2021, 60 IMH patients with 60 eyes (IMH group) and 60 healthy volunteers with 60 eyes (control group) who consecutively visited Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University were included in the study. Among the 60 eyes in the IMH group, 8, 8, 15, and 29 eyes were at stage Ⅰ, Ⅱ, Ⅲ, and Ⅳ, respectively. There was no significant difference in age, spherical equivalent power and axial length between the two groups ( t=1.327, 0.157, 0.542; P>0.05). The average macular choriodal thickness (AMCT) and CBP in different regions of the macular region of the examined eye were measured using a swept-frequency light source optical coherence tomography scanner. According to the zoning method for the treatment of diabetic retinopathy, the choroid within 6 mm of the fovea was divided into 3 concentric circles with the fovea as the center. They are the central area with a diameter of 1 mm, the inner ring area of 1-3 mm, and the outer ring area of 3-6 mm; the inner ring area and the outer ring area were divided into 4 areas by 2 radiations respectively, including the upper part of the inner superior (IS), the lower part of the inner inferior (Ⅱ ), and the nasal side of the inner nasal (IN), inner temporal (IT), outer superior (OS), outer inferior (OI), outer nasal (ON), outer temporal (OT), a total of 9 regions. The distribution characteristics of AMCT and CBP in different regions were observed. The correlation between AMCT and CBP was analyzed by Pearson correlation; the correlation between AMCT, CBP and IMH stage was analyzed by Spearman correlation. Results:Compared with the eyes of the control group, the AMCT of the affected eyes in the IMH group was significantly thinner in all areas of the macula, and the difference was statistically significant ( t=2.378, 4.641, 2.888, 3.390, 3.575, 4.870, 4.077, 4.946, 4.578; P<0.05). Compared with the control group, the CBP in the OS and OT regions of the affected eyes in the IMH group was significantly lower, the difference was statistically significant ( t=3.424, 4.516; P<0.05). The results of Pearson correlation analysis showed that there was a significant positive correlation between AMCT and CBP in the OT region ( r=0.314, P<0.001). Spearman correlation analysis showed that there was a significant positive correlation between AMCT and IMH staging in each region ( r=0.375, 0.374, 0.289, 0.379, 0.441, 0.392, 0.303, 0.341, 0.292; P<0.05). There was no significant correlation between CBP and IMH staging in IN, OI and OT regions ( r=-0.138, -0.016, -0.221; P>0.05); CBP and IMH staging in other regions were significantly negatively correlated ( r=-0.560, -0.390,-0.819, -0.692, -0.329, -0.587; P<0.05). Conclusions:The choroidal thickness in the macular region of the eyes with IMH is significantly thinner than that of the normal subjects; there is choroidal hypoperfusion in local areas. There is a significant positive correlation between local regional AMCT and CBP; IMH stage is higher, the trend of AMCT in each region is thickening, and the CBP in most regions decrease.

5.
Chinese Journal of Ocular Fundus Diseases ; (6): 755-761, 2022.
Article in Chinese | WPRIM | ID: wpr-958509

ABSTRACT

Objective:To observe and analyze the macular choroidal thickness and choroidal blood perfusion (CBP) in eyes with idiopathic macular hole (IMH) and their correlation.Methods:A cross-sectional observational clinical study. From March 2019 to October 2021, 60 IMH patients with 60 eyes (IMH group) and 60 healthy volunteers with 60 eyes (control group) who consecutively visited Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University were included in the study. Among the 60 eyes in the IMH group, 8, 8, 15, and 29 eyes were at stage Ⅰ, Ⅱ, Ⅲ, and Ⅳ, respectively. There was no significant difference in age, spherical equivalent power and axial length between the two groups ( t=1.327, 0.157, 0.542; P>0.05). The average macular choriodal thickness (AMCT) and CBP in different regions of the macular region of the examined eye were measured using a swept-frequency light source optical coherence tomography scanner. According to the zoning method for the treatment of diabetic retinopathy, the choroid within 6 mm of the fovea was divided into 3 concentric circles with the fovea as the center. They are the central area with a diameter of 1 mm, the inner ring area of 1-3 mm, and the outer ring area of 3-6 mm; the inner ring area and the outer ring area were divided into 4 areas by 2 radiations respectively, including the upper part of the inner superior (IS), the lower part of the inner inferior (Ⅱ ), and the nasal side of the inner nasal (IN), inner temporal (IT), outer superior (OS), outer inferior (OI), outer nasal (ON), outer temporal (OT), a total of 9 regions. The distribution characteristics of AMCT and CBP in different regions were observed. The correlation between AMCT and CBP was analyzed by Pearson correlation; the correlation between AMCT, CBP and IMH stage was analyzed by Spearman correlation. Results:Compared with the eyes of the control group, the AMCT of the affected eyes in the IMH group was significantly thinner in all areas of the macula, and the difference was statistically significant ( t=2.378, 4.641, 2.888, 3.390, 3.575, 4.870, 4.077, 4.946, 4.578; P<0.05). Compared with the control group, the CBP in the OS and OT regions of the affected eyes in the IMH group was significantly lower, the difference was statistically significant ( t=3.424, 4.516; P<0.05). The results of Pearson correlation analysis showed that there was a significant positive correlation between AMCT and CBP in the OT region ( r=0.314, P<0.001). Spearman correlation analysis showed that there was a significant positive correlation between AMCT and IMH staging in each region ( r=0.375, 0.374, 0.289, 0.379, 0.441, 0.392, 0.303, 0.341, 0.292; P<0.05). There was no significant correlation between CBP and IMH staging in IN, OI and OT regions ( r=-0.138, -0.016, -0.221; P>0.05); CBP and IMH staging in other regions were significantly negatively correlated ( r=-0.560, -0.390,-0.819, -0.692, -0.329, -0.587; P<0.05). Conclusions:The choroidal thickness in the macular region of the eyes with IMH is significantly thinner than that of the normal subjects; there is choroidal hypoperfusion in local areas. There is a significant positive correlation between local regional AMCT and CBP; IMH stage is higher, the trend of AMCT in each region is thickening, and the CBP in most regions decrease.

6.
Chinese Journal of Experimental Ophthalmology ; (12): 632-638, 2022.
Article in Chinese | WPRIM | ID: wpr-955293

ABSTRACT

Objective:To evaluate the effectiveness and safety of intravitreal injection of different doses of aflibercept for polypoidal choroidal vasculopathy (PCV) with serous pigment epithelial detachment (PED) resistant to ranibizumab.Methods:A non-randomized controlled clinical study was conducted.Seventy-three eyes of 73 patients with PCV and serous PED resistant to ranibizumab were enrolled at the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2020.All patients were treated by intravitreal injection of 2 mg or 4 mg aflibercept according to patients' willingness.2 mg aflibercept or 4 mg aflibercept was intravitreally injected monthly for three consecutive months following pro re nata (PRN) regimen in 2 mg aflibercept group (38 eyes) and 4 mg aflibercept group (35 eyes), respectively.PED height and central macular thickness (CMT) were measured by optical coherence tomography, and the best corrected visual acuity (BCVA) was examined with a visual acuity chart and converted to logarithm of the minimum angle of resolution (LogMAR) unit before injection and 1 month, 2, 3, 6 months from the first injection.Intraocular pressure and treatment-related adverse events were recorded.This study adhered to the Declaration of Helsinki and was approved by an Ethics Committee of The First Affiliated Hospital of Zhengzhou University (No.2021-KY-1252).Written informed consent was obtained from each patient prior to entering study cohort.Results:Thirty-three patients (86.84%) in 2 mg aflibercept group and 30 patients (85.71%) in 4 mg aflibercept group finished the treatment and follow-up, respectively. The PED, BCVA and CMT before treatment and at the end of follow-up were (379.24±95.50) and (280.09±120.50)μm, 0.68±0.27 and 0.51±0.19, (393.96±100.81) and (291.70±44.09)μm in 2 mg aflibercept group, respectively, showing statistically significant differences (all at P<0.05).The PED, BCVA and CMT before treatment and at the end of follow-up were (393.07±93.76) and (278.63±145.07)μm, 0.66±0.31 and 0.48±0.22, (377.43±79.61) and (284.67±84.88)μm in 4 mg aflibercept group, respectively, with statistically significant differences (all at P<0.05).The CMT value in 4 mg aflibercept group was significantly lower than that in the 2 mg aflibercept group in one month after injection ( P<0.05).No severe ocular and systemic adverse events were found during the follow-up, such as retinal detachment, endophthalmitis, cataract, and persistent high intraocular pressure. Conclusions:Both 2 mg and 4 mg aflibercept can effectively treat ranibizumab-resistant PCV with serous PED, and improve the anatomical structure of retina and BCVA.4 mg aflibercept can accelerate the recovery of PED and CMT.

7.
Chinese Journal of Ocular Fundus Diseases ; (6): 120-125, 2022.
Article in Chinese | WPRIM | ID: wpr-934281

ABSTRACT

Objective:To study the efficiency and difference of the artificial intelligence (AI) system based on fundus-reading in community and hospital scenarios in screening/diagnosing diabetic retinopathy (DR) among aged population, and further evaluate its application value.Methods:A combination of retrospective and prospective study. The clinical data of 1 608 elderly patients with diabetes were continuously treated in Henan Eye Hospital & Henan Eye Institute from July 2018 to March 2021, were collected. Among them, there were 659 males and 949 females; median age was 64 years old. From December 2018 to April 2019, 496 elderly diabetes patients were prospectively recruited in the community. Among them, there were 202 males and 294 female; median age was 62 years old. An ophthalmologist or a trained endocrinologist performed a non-mydriatic fundus color photographic examination in both eyes, and a 45° frontal radiograph was taken with the central fovea as the central posterior pole. The AI system was developed based on the deep learning YOLO source code, AI system based on the deep learning algorithm was applied in final diagnosis reporting by the"AI+manual-check" method. The diagnosis of DR were classified into 0-4 stage. The 2-4 stage patients were classified into referral DR group.Results:A total of 1 989 cases (94.5%, 1 989/2 104) were read by AI, of which 437 (88.1%, 437/496) and 1 552 (96.5%, 1 552/1 608) from the community and hospital, respectively. The reading rate of AI films from community sources was lower than that from hospital sources, and the difference was statistically significant ( χ2=51.612, P<0.001). The main reasons for poor image quality in the community were small pupil (47.1%, 24/51), cataract (19.6%, 10/51), and cataract combined with small pupil (21.6%, 11/51). The total negative rate of DR was 62.4% (1 241/1 989); among them, the community and hospital sources were 84.2% and 56.3%, respectively, and the AI diagnosis negative rate of community source was higher than that of hospital, and the difference was statistically significant ( χ2=113.108, P<0.001). AI diagnosis required referral to DR 20.2% (401/1 989). Among them, community and hospital sources were 6.4% and 24.0%, respectively. The rate of referral for DR for AI diagnosis from community sources was lower than that of hospitals, and the difference was statistically significant ( χ2=65.655, P<0.001). There was a statistically significant difference in the composition ratio of patients with different stages of DR diagnosed by AI from different sources ( χ2=13.435, P=0.001). Among them, community-derived patients were mainly DR without referral (52.2%, 36/69); hospital-derived patients were mainly DR requiring referral (54.9%, 373/679), and the detection rate of treated DR was higher (14.3%). The first rank of the order of the fundus lesions number automatically identified by AI was drusen (68.4%) and intraretinal hemorrhage (48.5%) in the communities and hospitals respectively. Conclusions:It is more suitable for early and negative DR screening for its high non-referral DR detection rate in the community. Whilst referral DR were mainly found in hospital scenario.

8.
Chinese Journal of Practical Nursing ; (36): 606-612, 2022.
Article in Chinese | WPRIM | ID: wpr-930668

ABSTRACT

Objective:To investigate the knowledge, attitude and practice status of ophthalmic nurses on prevention and control of intraocular infection in grade Ⅲ class A hospitals.Methods:A self-made questionnaire was used to investigate the knowledge, attitude and practice of 236 nurses on prevention and control of intraocular infection in the ophthalmology department of 8 grade Ⅲ class A hospitals in Zhengzhou from January to June 2020. The correlation between the knowledge, attitude and practice were analyzed by Pearson correlation analysis and the influencing factors of each term were analyzed by multivariate Logistic regression.Results:The scores of knowledge, attitude, practice of all nurses were (26.08 ± 2.46), (67.45 ± 8.48), (50.31 ± 6.67) points, and the scoring rate were (87.0 ± 8.2)%, (84.3 ± 10.1)%, (83.9 ± 9.8)%, respectively. The scores of each dimension of knowledge, attitude and practice were significantly positively correlated ( r values were 0.26-0.42, all P<0.05), respectively. Multivariate Logistic regression analysis showed that education background, professional title and training experience of infection were the influencing factors of knowledge score ( P<0.05), education background, professional title, training experience of infection and demand were the influencing factors of attitude score ( P<0.05), and nursing age and work post were the influencing factors of practice score ( P<0.05). Conclusions:The level of knowledge, attitude and practice of ophthalmic nurses in grade Ⅲ class A hospitals on prevention and control of intraocular infection is overall good. Hospital management department still needs to make reasonable management countermeasures according to personnel characteristics to improve the knowledge, attitude and practice level of ophthalmic nurses and to reduce post-operative intraocular infection.

9.
Chinese Journal of Ocular Fundus Diseases ; (6): 841-847, 2021.
Article in Chinese | WPRIM | ID: wpr-912415

ABSTRACT

Objective:To report the BEST1 gene mutations and clinical phenotypes in two pedigrees with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). Methods:A retrospective clinical study. From November 2019 to March 2021, in the Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University, the BVMD family (4 patients and 6 family members) and the ARB family (2 patients, 2 family members), a total of 6 patients and 8 normal family members were included in the study. Detailed medical history was obtained; best corrected visual acuity, fundus color photography, electrophysiology, optical coherence tomography and fundus autofluorescence examination were performed. The clinical characteristics for all patients in the two families were analyzed. Three milliliter peripheral venous blood of all participants in the family was collected, and the whole genomic DNA was extracted with gene sequencing using next-generation sequencing technology based on targeted capture. Compared with the database to identify the pathogenicity mutation sites, suspected pathogenic mutation sites were selected, then mutations in other members in the family was assayed by Sanger sequencing.Results:In family 1, the proband was demonstrated as typical BVMD, other patients were multifocal vitelliform macular dystrophy. The DNA sequencing result showed that all the 4 patients carried heterozygous missense mutations in exon 3 of BEST1 gene: c.240C>G (p.F80L) (M1) and 2 members carried this mutation, but without clinical phenotype. M1 was a likely-pathogenic mutation reported for the first time. In family 2, the proband and the other patient were diagnosed as ARB. The DNA result showed that the 2 patients carried heterozygous missense mutations in exon 5 and exon 2 of BEST1 gene: c.584C>T (p.A195V) (M2)、c.139C>A (p.R47S) (M3), and a heterozygous frameshift mutation in exon 3 of BEST1 gene: c.235dupT (p.S79Ffs*153) (M4). M2 was a pathogenic mutation reported previously. M3 variant was of undetermined significance. M4 was a first reported pathogenic mutation. Conclusions:The BEST1 gene mutation is the main cause of BVMD and ARB. Different mutation sites have different clinical phenotypes. BVMD and ARB have genetic and clinical heterogeneity.

10.
Chinese Journal of Ocular Fundus Diseases ; (6): 104-108, 2021.
Article in Chinese | WPRIM | ID: wpr-885846

ABSTRACT

Objective:To compare the quantitative measurements of the retinal capillary nonperfusion areas in a cohort of proliferative diabetic retinopathy (PDR) patients with fluorescein fundus angiography (FFA) and swept source optical coherence tomography angiography (SS-OCTA), and to determine the intrapersonal variability between examiners.Methods:A cross-sectional study. Eighteen eyes of eleven PDR patients diagnosed in Department of ophthalmology of Henan Provincial People's Hospital from September 2019 to January 2020 were included in this study. FFA was performed using Spectralis HRA+OCT (Germany Heidelberg Company) from and SS-OCTA was performed using VG200D (China Vision Micro Image Corporation). SS-OCTA was used to collect images of retinal layer, superficial capillary plexus (SCP) and deep capillary plexus (DCP). The same observation area was 80°×60° for SS-OCTA and 55° for FFA with both setting centered on the fovea. The forty-nine retinal capillary nonperfusion areas were observed. The area measurement was completed independently by three examiners. Paired sample t test or paired sample Wilcoxon test were used to compare the measured values of retinal capillary nonperfusion areas between the two examination methods and among the three examiners. Results:There was no significant difference in the retinal layer, SCP and DCP nonperfusion area measured by FFA and SS-OCTA among the three examiners ( P>0.05), and the consistency is good (consistency correlation coefficient> 0.9, P<0.05). The nonperfusion area measured by FFA was 0.786 mm 2. The median nonperfusion area of retinal layer and SCP measured by SS-OCTA were 0.787 mm 2 and 0.791 mm 2, respectively, and the average nonperfusion area of DCP was 0.878±0.366 mm 2. The nonperfusion area of retinal layer and SCP measured by FFA and SS-OCTA showed no statistically significant difference ( P=0.054, 0.198). The nonperfusion area of DCP measured by SS-OCTA was significantly larger than that of FFA, and the difference was statistically significant ( P<0.001). The results of repeatability analysis showed that 93.88% (46/49) of the DCP nonperfusion area data measured by SS-OCTA were greater than those measured by FFA. Conclusion:The retinal nonperfusion area of DCP in PDR patients measured by SS-OCTA is larger than that of FFA.

11.
Chinese Journal of Experimental Ophthalmology ; (12): 404-409, 2021.
Article in Chinese | WPRIM | ID: wpr-883351

ABSTRACT

Objective:To evaluate the effectiveness and safety of 3.5% lidocaine hydrochloride ophthalmic gel for eye surface anesthesia.Methods:A multicenter, randomized, double-blind, placebo controlled clinical trial was conducted in 10 hospitals in China from August 2018 to April 2019 under the approval of an Ethics Committee of Beijing Hospital (No.2018BJYYEC-014-02). A total of 220 fellow eyes of 220 subjects who received ocular surgery in one eye were actually enrolled according to a same included criteria in different institutes.The 220 eyes were randomly divided into control group and trail group.Two drops of lidocaine hydrochloride gel were dropped at about 5 mm away from corneal limbus at 6 o'clock direction of experimental eye of the trail group, and the blank gel was used in the eyes of the control group in the same way.The pain sensation was assessed with a 0.3 mm toothless micro forceps on conjunctiva within a specified time, and ''pain'' or ''no pain'' was answered by the subjects.The primary effective indexes, namely the number of eyes and percentage of ''no pain'' within 5 minutes following dropping, as well as the secondary indexes including the onset time point of the drug and the duration of anesthesia were recorded and evaluated.Safety evaluation took ocular and system adverse events into account.Results:Within 5 minutes after dropping, ''no pain'' occurred in 104 eyes (94.55%) and 29 eyes (26.36%) in the trail group and control group, respectively, showing a significant difference between the two groups ( χ2=106.948, P<0.001). And there was a significant difference in anesthesia onset time between the trail group and control group (40.0 seconds vs. 300.0 seconds) ( Z=-15.17, P<0.001). The duration of anesthesia was 860.5 (577.5, 1 180.0) seconds in the trail group and 676.0 (280.0, 1 401.0) seconds in the control group, with no statistically significant difference between the two groups ( Z=0.898, P>0.05). The incidence of adverse events in the trail group and control group were 5.45% (6/110) and 4.55% (5/110), respectively, without statistical significance between them ( P=1.000). Conclusions:The 3.5% lidocaine hydrochloride is a safe, effective, easy to use and high-quality surface anesthesia drug for eye surgery.

12.
Chinese Journal of Experimental Ophthalmology ; (12): 13-19, 2021.
Article in Chinese | WPRIM | ID: wpr-883295

ABSTRACT

Objective:To investigate the effect of microRNA-155(miR-155) on transforming growth factor β2 (TGF-β2)-induced epithelial-mesenchymal transition of human retinal pigment epithelial cells and its mechanism.Methods:The retinal pigment epithelial cell ARPE-19 cell line was used as the research object.The cells cultured with DMEM medium were served as the control group and the cells cultured with DMEM medium containing 10 ng/ml TGF-β2 were served as the TGF-β2 group.The ARPE-19 cells transfected with miR-155 inhibitor were set as the miR-155 inhibitor group and the ARPE-19 cells transfected with miR-155 negative control were set as the miR-155 negative control group, and the cells in the two groups were cultured in DMEM medium containing 10 ng/ml TGF-β2.After 48 hours cell culture, reverse transcription-PCR was used to detect the expression of miR-155 in each group, and scratch migration test and Transwell chamber test were used to detect cell migration and invasion ability, and Western blot was used to detect the expressions of phosphate and tension homology deleted on chromosome ten gene (PTEN), phosphatidylinositol 3-kinase (PI3K), protein kinase B (Akt), p-Akt and epithelial mesenchymal markers E-cadherin (E-cad), zonula occludens protein 1 (ZO-1), F-actin, α-smooth muscle actin (α-SMA), fibronectin 1 (FN-l) vimentin, proteins.The target gene prediction library predicted miR-155 target gene and fluorescein enzyme reporter vectors were used to identify target genes.Results:After 48 hours of culture, the cells in the control group were in good condition with tight adherence and regular shape.The cells in the TGF-β2 group showed more obvious spindle shape with loose arrangement, and most of the cells were fibrous.The relative expression level of miR-155 in the cells of TGF-β2 group was 0.92±0.14, which was significantly higher than 0.35±0.06 of the control group ( t=7.242, P=0.003). The relative expression level of miR-155 in the cells of miR-155 inhibitor group was 0.21±0.03, which was significantly lower than 0.98±0.09 of the miR-155 negative control group ( t=12.421, P<0.01). The migration rate was higher and the number of cells passing through basement membrane was more in the TGF-β2 group than those of the control group, and the migration rate was higher and the number of cells passing through basement membrane of miR-155 was more in the miR-155 negative control group than those of the miR-155 inhibitor group, and the differences were statistically significant (all at P<0.01). Compared with the control group, the relative expression levels of PTEN, E-cad, ZO-1, F-actin protein were decreased, while the relative expression levels of PI3K and the p-Akt/Akt ratio were increased, and the relative expression levels of α-SMA, FN-1, vimentin proteins were increased in the TGF-β2 group, and the differences were statistically significant (all at P<0.01). Compared with the miR-155 negative control group, the relative expression levels of E-cad, ZO-1, F-actin and PTEN proteins were increased, while the relative expression levels of α-SMA, FN-l, vimentin, PI3K and the p-Akt/Akt ratio were decreased in the miR-155 inhibitor group, and the differences were statistically significant (all at P<0.01). Target gene prediction library prediction and luciferase reporter vector identification confirmed that PTEN was a downstream target gene of miR-155. Conclusions:miR-155 can promote the TGF-β2-induced epithelial-mesenchymal transition progress in human retinal pigment epithelial cells, and its mechanism may be related to inhibiting the expression of the target gene PTEN and stimulating the activation of the PI3K/Akt signaling pathway.

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Chinese Journal of Ocular Fundus Diseases ; (6): 777-782, 2020.
Article in Chinese | WPRIM | ID: wpr-871833

ABSTRACT

Objective:To observe the correlation between posterior myopic retinoschisis(MRS) and posterior scleral staphyma (PS) in pathological myopia (PM), and to preliminarily explore the influencing factors of MRS.Methods:A retrospective case series study. From November 2016 to November 2019, 38 patients with PM with MRS diagnosed in Henan Eye Hospital & Henan Eye Institute from were included in the study. There were 10 males and 28 females; 13 patients were binocular and 25 patients were monocular. The average age was (49±13) years old. BCVA, retinoscopy optometry, frequency domain OCT, three-dimensional magnetic resonance imaging (3D-MRI) examination and axial length (AL) measurement were performed. According to the frequency domain OCT inspection results, MRS was divided into inner splitting, outer splitting and mixed splitting; based on the 3D-MRI scan results, PS was divided into broad macula, narrow macula,discoid, nasal, subdisc and other types. The correlation between MRS and PS was tested by χ2 test or Fisher exact test. Results:Among 60 eyes, 58 eyes (96.77%) of MRS combined with PS. Among them, the wide macula, narrow macula, discoid, nasal, subdisc, and other types were 30 (51.72%), 19 (32.75%), 1 (1.72%), 2 (3.48%), 2 (3.48%) and 4 (6.85%) eyes; inner split, outer split, and mixed split were 10 (17.24%), 24 (41.38%), 24 (41.38%) eyes. Of the 19 eyes with narrow macular PS, MRS involved the fovea in 16 eyes; of the 39 eyes with PS of other forms, MRS involved the fovea in 22 eyes. There was a statistically significant difference between the narrow macular type and other types involving foveal eyes ( P=0.044). The correlation between MRS involving the fovea and narrow macular PS was moderate (Cramer's V=0.275). The ages of patients with inner split, outer split, and mixed split were 44±12, 56±10, and 44±13 years, respectively. Patients with inner splitting were younger than those with outer splitting, and those with outer splitting were older than those with inner splitting and mixed splitting. The differences were statistically significant ( P=0.010, 0.010, 0.060). Conclusion:PM with MRS mostly occur in PS-affected eyes, and mainly macular PS (wide macula, narrow macula).

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Chinese Journal of Experimental Ophthalmology ; (12): 669-673, 2019.
Article in Chinese | WPRIM | ID: wpr-753216

ABSTRACT

Objective To evaluate the performance of an artificial intelligence ( AI ) assisted diagnosis system for diabetic retinopathy ( DR) based on deep learning theory. Methods Diagnostic performance of a robot assisted diagnosis system called SongYue for DR was trained by using 25297 retinal images tagged by fundus doctors from multiple hospitals in China. Four types of DR detection model consisting of abnormal DR,referable DR,severe non-proliferative and proliferative DR as well as proliferative DR according to fundus leisions identification were established. The ability of the system to distinguish DR was determined by using receiver operator characteristic (ROC) analysis,sensitivity and specificity of the system. Results SongYue system achieved an area under the ROC curve ( AUC) of 0. 920 for successfully distinguishing normal images from those DR with a sensitivity of 96. 0%at a specificity of 87. 9%. The AUC of SongYue for referable DR was 0. 925,sensitivity was 90. 4%,and specificity was 95. 2%. For severe non-proliferative and proliferative DR,AUC was 0. 845,sensitivity was 72. 7%,and specificity was 96. 2%. For proliferative DR, AUC was 0. 855, sensitivity was 73. 5%, and specificity was 97. 3%. Conclusions SongYue robot assisted diagnosis system has high AUC,sensitivity and specificity for identifying DR, showing good clinical applicable benefits.

15.
Chinese Journal of Ocular Fundus Diseases ; (6): 135-139, 2019.
Article in Chinese | WPRIM | ID: wpr-746202

ABSTRACT

Objective To investigate the risk factors of postoperative vitreous hemorrhage after minimal vitrectomy without endotamponade for proliferative diabetic retinopathy (PDR).Methods From June 2015 to June 2017,103 eyes of 103 patients with PDR diagnosed and underwent minimalvitrectomy in Henan Provincial People's Hospital were enrolled in the study.There were 58 males and 45 females,with the average age of 58.37± 10.14 years and diabetes duration of 8.7± 7.2 years.Baseline systemic parameters including sex,age,diabetes duration,hypertension,HbA1c,creatinine,whether received anticoagulants,ocular parameters including whether combined with vitreous hemorrhage,whether finished panretinal photocoagulation (PRP),whether received treatment of anti-VEGF,whether combined with iris neovascularization (NVI),lens status preoperatively,whether hypotony postoperatively and intraoperative parameters including whether disc neovascularization (NVD) bleeding,whether fibrovascular membrane (FVM) residual,laser points,whether combined with cataract phacoemulsification were identified by multivariate logistic regression analysis.Results Twenty-nine of 103 eyes (28.15%) developed PVH in 1 day to 6 months after surgery,with self absorption of 18 eyes and reoperation of 11 eyes.Univariate analysis showed there were significant differences in age (t=2.124,P=0.036),anti-VEGF(x2=7.105,P=0.008),NVD bleeding (x2=10.158,P=0.001) and FVM residual(x2=8.445,P=0.004) between patients with and without postoperative vitreous hemorrhage.Sex (x2=0.021,P=0.884),diabetes duration (t=0.87,P=0.386),hypertension (x2=2.004,P=0.157),HbA1c (t=1.211,P=0.229),creatinine (t=0.851,P=0.397),preoperative oral anticoagulants (x2=0.985,P=0.321),preoperative vitreous hemorrhage (x2=0.369,P=0.544),PRP (X2=1.122,P=0.727),NVI (x2=2.635,P=0.105),lens status (x2=0.172,P=0.679),hypotony postoperatively (x2=1.503,P=0.220),laser points (x2=1.391,P=0.238) and combined phacoemulsification surgery (x2=0.458,P=0.499) were not associated with PVH.Multivariate logistic regression analysis revealed the more PVH appeared in younger (OR=1.065,P=0.009) and NVD bleeding (OR=6.048,P=0.001) patients.Conclusion Younger age and NVD bleeding are the important risk factors for PVH after minimal vitrectomy without endotamponade in PDR.

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Chinese Journal of Experimental Ophthalmology ; (12): 337-343, 2018.
Article in Chinese | WPRIM | ID: wpr-699742

ABSTRACT

Objective This study was to observe the morphology of live intrinsically photosensitive retinal ganglion cells (ipRGCs) at cellular level,and to explore their three-dimensional structure and responses to light in curved retina and the relationship with rod/cone photoreceptors.Methods ipRGCs were identified according to the enhanced green fluorescent potein (EGFP) markers.Two hundred and sixty-three ipRGCs were videoed in mouse whole-mounted retina after strengthening with Lucifer Yellow from patch clamp electrodes.The dendrites and cell bodies were analyzed according to their sublayer-specific localization in inner plexiform layer and ganglion cell layer of curved retina.The relationship with rod/cone system was reconstructed and their functions were speculated.The animal feeding and use was in accordance with the standards set by the ARVO,and the experiment was approved by the Ethic Committee for Experimental Animal of Hubei University of Science and Technology.Results The ipRGCs had strictly sublayer-specific localization in three sublayers of retinal inner plexiform layer.Each sublayer occupies full retina and form photosensitive surface,without any intermediate photosensitive dentric distribution between sublayers.Each ipRGC had randomly dentric distributions among the three sublayer curves,without the specific ON/OFF stratification.The photosensitive sublayers had absolutely perpendicular assignment related to cone/rod photoreceptors.The expression of melanopsin and spike-producing Ca2+/Na+ channels were randomly distributed in M1,M2 and M3 cells.M4 and M5 cells shared the characteristic properties of conventional ganglion cells.Conclusions In contrast to the rod/cone photoreceptors,ipRGCs form multiple-sublayer photosensitive curved surface,which are perpendicular to rod/cone photoreceptors,their photosensitive melanopsin and intrinsic spike-producing channels randomly occupy these specific sublayers,which suggest their distinct functions from rod/cone photoreceptors.

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Chinese Journal of Ocular Fundus Diseases ; (6): 268-271, 2018.
Article in Chinese | WPRIM | ID: wpr-711916

ABSTRACT

Objective To identify the pathogenic genes and mutations in a family with Usher syndrome type 2.Methods A three-generation family including 7 individuals was enrolled in this study.There were 2 male patients and 5 unaffected individuals.All participants was underwent related ophthalmologic examination,including best corrected visual acuity,slit-lamp,indirect ophthalmoscopy,electroretinogram (ERG),optical coherence tomography and visual field test.DNA was extracted from 3 ml peripheral venous blood of all participants.A total of 136 hereditary retinal disease target genes were screened and the DNA sequence was performed by Next-generation sequence analysis.Then the suspected mutations compared with databases to identify the suspected mutations,which should be verified with non-affected family members and 100 normal subjects by PCR and Sanger sequence.Results The sequence result showed that 2 patients,the proband and his brother,carried complex heterozygous mutations in the USH2A gene:c.5459T>C (p.M1820T) in exon 27,c.802G >A (p.G268R) in exon 5 and c.1190T>A (p.I397K) in exon 7.The c.5459T > C and c.1190T >A mutations in USH2A have not been reported in the literature and database.Although their mother carried c.5459T>C (p.M1820T) and c.802G>A (p.G268R),and their father carried c.1190T>A (p.I397K) heterozygous mutations,the parents did not present phenotype.These mutations were not detected in other normal family members.The result was supported by co-segregation analysis.Conclusion The heterozygous mutations c.5459T>C (p.M1820T),c.1190T>A (p.I397K) and c.802G>A (p.G268R) in USH2A gene cause Usher syndrome in this family.

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Chinese Journal of Ocular Fundus Diseases ; (6): 139-143, 2017.
Article in Chinese | WPRIM | ID: wpr-515244

ABSTRACT

Objective To compare the efficacy of intravitreal injection of ranibizumab and bevacizumab in the treatment of pathological myopia choroidal neovascularization (PM-CNV).Methods It is a retrospective case study.Seventy-nine patients (79 eyes) with PM-CNV were enrolled in this study.There were 26 males (26 eyes) and 53 females (53 eyes),with the mean age of (30.77 ± 5.53) years.The best corrected visual acuity (BCVA),intraocular pressure,slit lamp microscope,fundus color photography,fundus fluorescein angiography,and optical coherence tomography (OCT) were performed.BCVA was recorded as logarithm of the minimum angle of resolution (logMAR).The central retinal thickness (CMT) was measured by OCT (Cirrus HDOCT).The eyes were divided into bevacizumab treatment group (38 eyes) and ranibizumab treatment group (41 eyes).There was no difference of the mean logMAR BCVA,intraocular pressure and CMT between two groups (t=-0.467,-1.983,1.293;P=0.642,0.051,0.200).The eyes in bevacizumab treatment group were treated with bevacizumab 0.05 ml (1.25 mg),and the eyes in ranibizumab treatment group were treated with ranibizumab 0.05 ml (0.5 rag).Times of injection between two groups were compared.The changes of intraocular pressure were observed at 1,7 days and 1 month after treatment.The changes of logMAR BCVA and CMT at 1,3,6,12 and 24 months after treatment and systemic adverse reactions occur were compared.Results At the 1,3,6,12 and 24 months after treatment,the mean logMAR BCVA of the bevacizumab treatment group and the ranibizumab treatment group was significantly improved than that before treatment (F=132.374,P<0.01).There was no significant difference in the mean logMAR BCVA at different time points between the two groups (F=0.095,P=0.759).The mean CMT of the two groups was lower than that before treatment (F=151.653,P<0.01).There was no significant difference in the mean CMT between the two groups (F=0.332,P=0.566).No retinal detachment,endophthalmitis,cataract and persistent high intraocular pressure were associated with drug,injection-related eye and systemic adverse events during follow-up.Seven eyes had conjunctiva bleeding after treatment,11 patients (11 eyes) complained of shadow floaters after treatment.Conclusion Intravitreal injection ofbevacizumab or ranibizumab can equally effectively improve the visual acuity and reduce the CMT of PM-CNV patients.

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Chinese Journal of Experimental Ophthalmology ; (12): 710-715, 2017.
Article in Chinese | WPRIM | ID: wpr-641173

ABSTRACT

Background Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by a bilateral acute or subacute painless central visual loss in young adults,predominately in males.So far no one theory can completely explain all clinical manifestations of LHON.Objective This study was to investigate whether there is a linkage between X-chromosomal and mitochondrial mutation in the inheritance of a Chinese LHON pedigree with only male patients.Methods This study was approved by Ethic Committee of Affiliated First Hospital of Zhengzhou University and followed by Declaration of Helsinki.A Chinese LHON pedigree was included in Anyang city from January 2008 to August 2016.Periphery blood of 5-10 ml was collected from 4 sufferers,13 maternal members and 10 non-maternal members for DNA extraction and PCR sequencing.The gene scanning and genotyping analysis were performed by ABI-PRISM 3100 genetic analyzer and Genotyper 3.7 software,and linkage analysis was carried out with Linkage software for the calculation of logarithm of odds (LOD).Mitochondrial DNA (mtDNA) sequence,fluorescence-based Genescan for X-chromosomal sequence were analyzed in the propositus and haplotype was evaluated.Results A total of 5 generations and 71 families were included in the pedigree,with 6 male sufferers,30 maternal members and 41 non-maternal members.The visual acuity was ≤0.10,and the central visual field defection,the optic nerve flushing was found in the acute phase,different levels of the optic nerve fibers atrophy were found in the chronic phase;visual evoked potential (VEP) amplitude was low and peak latency were found in the male patients,and no any ocular abnormality was seen in the maternal members,meeting a maternally inherited characteristics,with the penetranee of 20%.The three primnary mutations were not been found in this family bv PCR sequencing,mtDNA sequencing appeared 31 variation of loci in the proband,including a known G3635A mutation,as well as an unknown ND5 A12340G missense mutation and ND4 T11809C synonymous mutation as well as 28 polymorphism of locus,and the proband was mitochondrial haplotype F1.The maternal families were mutation carriers of G3635A and AI2340G loci,while the same mutation was not found in the normal family members and 107 controls.The maximum two point parametric LOD score was 1.46(θ=0.0) for marker DXS1060,1oeated at Xp22.3,and the two-point and multipoint non-parametric linkage analysis were significant (all at P>0.05).Conclusions The ND5 A12340G and ND1 G3635A mutations coexist in this LHON family,and the ND5 A12340G mutation is a newly reported mutation.There is no evidence for an X-linked modifiers loci in this Chinese LHON family.

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Chinese Journal of Experimental Ophthalmology ; (12): 916-919, 2016.
Article in Chinese | WPRIM | ID: wpr-638001

ABSTRACT

Congenital cataract is one of the important reasons for the blindness of children,and most congenital cataracts are genetic.At present,thirty-nine genes have been identified relating to autosomal dominant congenital cataract (ADCC).Objective This study was to identify and analyze the virulence gene of a Chinese family pedigree with ADCC by whole-exome sequencing.Methods A Chinese ADCC family was recruited in Affiliated First Hospital of Zhengzhou University from August to September in 2014.The family disease history and clinical data were recorded.The peripheral venous blood of 10 ml was collected in 14 patients with congenital cataract and 14 families with normal phenotype,and the peripheral blood samples were obtained from 100 healthy examined people as controls.The genomic DNA was extracted form all subjects using standard phenol chlorum method,and proband DNA was screened by whole-exome sequencing.Then mutation locus of the candidate gene was selected after compared with the information of database in the proband.The mutation locus of the candidate gene from 14 normal families and 100 healthy controls were amplified and sequenced by PCR technique based on the primer sequence of mutation locus of proband to verify the pathogenic gene of this ADCC family.This study protocol was approved by Ethic Committee of Affiliated First Hospital of Zhengzhou University and complied with Helsinki Declaration.Written informed consent was obtained from subjects or custodian before any medical examination.Results The family had a total of 5 generations of 68 members,in which 20 subjects were found with congenital cataract.The inheritance mode consisted with autosomal dominant inheritance.Cortical cataract was found in both eyes in the patients.Whole-exome sequencing showed that the 143rd ribonucleotide A of exon 2 explicit factor of chromosome 13 GJA3 gene mutated into G (c.143A>G) in the proband,which resulted in the 48th amino acids changed from glutamate into glycine (p.E48G).PCR amplification product sequencing displayed that the same mutation of DNA appeared in all the patients of this family,while not the same mutation was seen in the candidate genes of normal phenotype families and 100 healthy controls.Conclusions GJA3 gene c.143A>G is a virulence mutation site in this ADCC family,it is a supplement of the mutation spectrum of GJA3 gene.

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