ObjectiveTo 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.MethodsA 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.ResultsAmong 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).ConclusionPM with MRS mostly occur in PS-affected eyes, and mainly macular PS (wide macula, narrow macula).
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 HD-OCT). 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 mg). 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 of bevacizumab or ranibizumab can equally effectively improve the visual acuity and reduce the CMT of PM-CNV patients.
ObjectiveTo identify the pathogenic genes and mutations in a family with Usher syndrome type 2.MethodsA 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.ResultsThe 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.ConclusionThe 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.
ObjectiveTo investigate the risk factors of postoperative vitreous hemorrhage after minimal vitrectomy without endotamponade for proliferative diabetic retinopathy (PDR).MethodsFrom 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.ResultsTwenty-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(χ2=7.105, P=0.008), NVD bleeding (χ2=10.158, P=0.001) and FVM residual(χ2=8.445, P=0.004) between patients with and without postoperative vitreous hemorrhage. Sex (χ2=0.021, P=0.884), diabetes duration (t=0.87, P=0.386), hypertension (χ2=2.004, P=0.157), HbA1c (t=1.211, P=0.229), creatinine (t=0.851, P=0.397), preoperative oral anticoagulants (χ2=0.985, P=0.321), preoperative vitreous hemorrhage (χ2=0.369, P=0.544), PRP (χ2=1.122, P=0.727), NVI (χ2=2.635, P=0.105), lens status (χ2=0.172, P=0.679), hypotony postoperatively (χ2=1.503, P=0.220), laser points (χ2=1.391, P=0.238) and combined phacoemulsification surgery (χ2=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.ConclusionYounger age and NVD bleeding are the important risk factors for PVH after minimal vitrectomy without endotamponade in PDR.
ObjectiveTo report the BEST1 gene mutations and clinical phenotypes in two pedigrees with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB)．MethodsA 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. ResultsIn 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. ConclusionsThe 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.
ObjectiveTo investigate the relationship between single nucleotide polymorphisms (SNP) in the CHRM1 gene and genetic susceptibility to high myopia (HM) in the Han population of Henan Province. MethodsA retrospective case-control study. From January 2021 to April 2023, 576 HM patients (HM group) and 768 healthy volunteers (control group) were recruited from the Department of Ophthalmology, the First Affiliated Hospital of Zhengzhou University. All participants were of Han ethnicity from Henan Province. SNP data for the CHRM1 gene in the Northern Han Chinese population were downloaded from the 1000 Genomes Project Online Website, with screening criteria of Hardy-Weinberg equilibrium P＞0.05 and minor allele frequency＞0.05. Haploview software was used to analyze HapMap genotypes, identifying 5 tagSNP: rs55885673, rs544978, rs56995061, rs1942499, and rs2075748. MassARRAY system was employed for genotyping the 5 tagSNP loci. The SHEsis online software was employed to analyze the distribution differences of genotypes and allele frequencies between the two groups. Linkage disequilibrium coefficient D' was used to evaluate the recombination events between SNP loci, and haplotypes with frequencies exceeding 3% were constructed for statistical analysis. Results The age of the HM group was significantly lower than that of the control group (t=18.515, P＜0.05), while no significant difference was observed in gender distribution (χ2=2.869, P=0.087). Compared with the control group, the HM group showed significantly higher frequencies of the C allele [odds ratio (OR)=1.44, 95% confidence interval (CI): 1.09-1.91, Pc=0.045)] and CC genotype (OR=1.50, 95%CI: 1.11-2.02, Pc=0.038) at the rs56995061 locus, and significantly lower frequencies of the T allele (OR=0.69, 95%CI: 0.52-0.91, Pc=0.045) and CT genotype (OR=0.67, 95%CI: 0.49-0.91, Pc=0.045). Additionally, the CT genotype frequency at the rs2075748 locus was significantly lower in the HM group (OR=0.66, 95%CI: 0.53-0.84, Pc=0.002). The haplotype G-T-A-A formed by rs55885673-rs56995061-rs1942499-rs544978 was significantly less frequent in the HM group (OR=0.71, 95%CI: 0.54-0.94, P=0.170).ConclusionsThe polymorphisms at the SNP loci rs56995061 and rs2075748 in the CHRM1 gene are associated with the genetic susceptibility to high myopia in the Chinese Han population. The G-T-A-A haplotype composed of rs55885673-rs56995061-rs1942499-rs544978 reduces the susceptibility to high myopia.
ObjectiveTo observe the imaging features of extramacular retinoschisis (EMRS) and paravascular abnormalities (PVA) in myopic patients, and preliminary analyze the differences in age, best corrected visual acuity (BCVA), spherical equivalent (SE), axial length (AL), and subfoveal choroidal thickness (SFCT). MethodsA cross-sectional clinical study. A total of 60 myopia patients with EMRS who were admitted to Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University from January 2023 to June 2024 were included in the study. There were 18 male cases with 18 eyes and 42 female cases with 42 eyes. Age was (37.57±17.14) years; SE was (−10.76±4.66) D; AL was (28.36±1.87) mm. According to the characteristics of ultra-wide-angle optical coherence tomography images, PVA was divided into perivascular cysts (PC), perivascular microfolds (PM) and perivascular lamellar holes (PLH). According to the splitting level, EMRS can be divided into inner layer, middle layer and outer layer. According to SE, the affected eyes were divided into low myopia group, moderate myopia group and high myopia group. The occurrence of EMRS near optic disc, supratemporal, suprasal and subnasal, as well as the clinical characteristics of patients with EMRS at different locations, levels and forms of PVA were observed. Age, BCVA, SE, AL and SFCT of EMRS patients at different locations and levels were compared by independent sample t test. χ2 test or Fisher exact probability test were used to compare the categorical variables between groups. ResultsIn 60 eyes, EMRS were located in supratemporal, infratemporal, supranasal, subnasal, and paratopic discs in 36, 43, 15, 13, and 14 eyes, respectively. The EMRS in the inner and outer layers were 59 (98.3%, 59/60) and 35 (58.3%, 35/60) eyes, respectively. PVA was present in 47 eyes (78.3%, 47/60). Among them, PC, PM and PLH were 45, 39 and 18 eyes, respectively. The age of those with paratopic splitting was older than those without paratopic splitting (t=2.720). Those with temporal splitting had worse BCVA and longer AL than those without splitting (t=2.139, 2.119). Those with subnasal splitting had worse BCVA, higher myopia, longer AL and thinner SFCT than those without splitting. The differences were statistically significant (t=2.926, −2.640, 2.635, −3.938; P＜0.05). Compared with other types of EMRS, patients with inner EMRS had younger age (t=−2.383), better BCVA (t=−4.825), shorter AL (t=−4.767), lower myopia (t=4.791), and thicker SFCT (t=4.791); patients with full-layer EMRS were older (t=2.419), worse BCVA (t=3.656), longer AL (t=2.677), higher degree of myopia (t=−2.755), and thinner SFCT (t=−3.283), with statistical significance (P＜0.05). There was significant difference in SFCT among patients with or without PC (t=−2.396, P＜0.05). Compared with eyes without PM and PLH, eyes with PM had worse BCVA, longer AL, higher myopia, and thinner SFCT, and the differences were statistically significant (PM: t=2.514, 3.078, −2.811, −4.205; P＜0.05; PLH: t=2.514, 2.992, −2.949, −1.773; P＜0.05). ConclusionsEMRS primarily occurs in the temporal side, with the highest frequency in the inner layer. Patients with inner-layer EMRS are younger, have better BCVA, shorter AL, lower myopia, and thicker SFCT, whereas patients with full-layer EMRS exhibit the opposite characteristics.
ObjectiveTo 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. MethodsA 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. ResultsA 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.
ObjectiveTo observe the clinical characteristics and risk factors associated with pachydrusen in eyes affected by central serous chorioretinopathy (CSC). MethodsA retrospective clinical study. From July 2021 to June 2024, 144 cases and 158 eyes of CSC patients diagnosed through ophthalmological examination at Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University were included. All affected eyes underwent a series of assessments, including refraction, intraocular pressure measurement, fundus color photography, fluorescein fundus angiography (FFA), and swept-source optical coherence tomography (OCT). Additionally, 58 eyes underwent indocyanine green angiography (ICGA). Cross-sectional (en-face) OCT was utilized to observe the colocalization of pachydrusen with areas of dilation of large choroidal vessels and attenuation of the choriocapillaris layer. The device was used for OCT included software for calculating subfoveal choroidal thickness (SFCT). FFA fluorescein leakage was categorized into “ink stain”, “cooking smoke”, and “diffuse point leakage”. Patients were classified into groups of CSC patients complicated by pachydrusen and groups of CSC patients without pachydrusen. Comparisons between the groups were performed using the χ2 test, and factors associated with the presence of pachydrusen were analyzed using logistic regression. ResultsAmong 158 eyes, 72 eyes (45.6%, 72/158) were complicated by pachydrusen. In en-face OCT images, pachydrusen were co-located with dilated large choroidal vessels in 59 eyes (81.94%, 59/72) and corresponded to choroidal capillary layer blood flow holes in 61 eyes (84.72%, 61/72). Among the 58 eyes that underwent ICGA examination, pachydrusen corresponded to punctate strong fluorescence in 46 eyes (79.31%, 46/58) and were located in areas of choroidal hyperpermeability in 43 eyes (74.14%, 43/58). Compared with the CSC group without pachydrusen, the incidence of choroidal neovascularization, flat irregular pigment epithelial detachment, diffuse punctal leakage and multiple leakage points increased in the CSC group, and the differences were statistically significant (χ2=6.217, 8.455, 5.363, 17.749; P＜0.05). Logistic regression analysis indicated that age [odds ratio (OR)=1.116, 95% confidence interval (CI) 1.060-1.176, P＜0.001], chronic CSC [OR=2.628, 95%CI 1.250-5.526, P=0.011] were independent risk factors for the occurrence of pachydrusen. ConclusionsThe incidence of pachydrusen in eyes with CSC is 45.6%, with age and chronic CSC identified as independent risk factors for their occurrence. Pachydrusen correspond to dilated choroidal vessels and areas of choroidal hyperpermeability, which may serve as potential risk factors for CSC activity or development.
Objective To observe the anastomotic status of the vortex veins in patients with central serous chorioretinopathy (CSC). MethodsA 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. ResultsThe 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). ConclusionsSFCT, 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.