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Objective@#To investigate the mutation of P4HA2 gene in Tujia high myopia patients.@*Methods@#Clinical data and genomic DNA were collected from 288 Tujia patients with high myopia, whose spherical error ≥-6.00 diopters and axial length≥26 mm.All coding exons regions of P4HA2 were screened in patients to detect causative mutation by Sanger sequencing.The detected mutation was further screened in 192 normal control chromosomes in the same district.The pathogenicity of genetic mutations was predicted through bioinformatics analysis.This study followed the Declaration of Helsinki.All patients or their guardians signed informed consent.@*Results@#Four variations of P4HA2 gene were found in 288 patients, including one missense mutations(c.145C>A), two in-containing mutations (c.1306-62C>T, c.82+ 22C>T) and one insertion mutation (c.179+ 16_179+ 17 ins T). Missense mutation c. 145C>A was predicted as suspicious pathogenic gene by Polyphen2.According to the standard of ACMG in the United States, the variation was uncertain in pathogenicity.@*Conclusions@#Missense mutation c. 145C>A in P4HA2 gene is a suspicious pathogenic gene mutation in Tujia patients with high myopia.
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Objective To investigate the mutation of P4HA2 gene in Tujia high myopia patients. Methods Clinical data and genomic DNA were collected from 288 Tujia patients with high myopia, whose spherical error ≥-6. 00 diopters and axial length≥26 mm. All coding exons regions of P4HA2 were screened in patients to detect causative mutation by Sanger sequencing. The detected mutation was further screened in 192 normal control chromosomes in the same district. The pathogenicity of genetic mutations was predicted through bioinformatics analysis. This study followed the Declaration of Helsinki. All patients or their guardians signed informed consent. Results Four variations of P4HA2 gene were found in 288 patients,including one missense mutations(c. 145C>A), two in-containing mutations (c. 1306-62C>T,c. 82+22C>T) and one insertion mutation (c. 179+16_179+17 ins T). Missense mutation c. 145C>A was predicted as suspicious pathogenic gene by Polyphen2. According to the standard of ACMG in the United States, the variation was uncertain in pathogenicity. Conclusions Missense mutation c. 145C>A in P4HA2 gene is a suspicious pathogenic gene mutation in Tujia patients with high myopia.
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Objective To compare the short-term efficacy of conbercept and ranibizumab for macular edema in central retinal vein occlusion (CRVO)and explore the relationship between the integrity of ellipsoidal zone and visual acuity.Methods Forty-four eyes of 44 patients with macular edema in CRVO were enrolled into this retrospective and comparative study.There were 15 eyes of 15 males,29 eyes of 29 females;age ranged from 49-61 years old,with an average age of (54.65±3.10) years.All patients were examined with best-corrected visual acuity (BCVA),intraocular pressure (IOP),slit lamp,fundus photograph,fundus fluorescein angiography (FFA),optical coherence tomography(OCT).BCVA were examined with interactional visual chart and recorded with logarithm of the minimum angle of resolution acuity.Twenty-three eyes were intravitreal injected with conbercept 0.5 mg (group A) and 21 eyes were intravitreal injected with ranibizumab 0.5 mg (group B).There was no statistical difference of age (t =-1.41),gender (x2 =0.55),the percentage of hypertension patients (x2 =0.27),average BCVA (t =-2.06),IOP (t=-2.52),central macular thickness (CMT) (t=-1.96),number of different integrity of ellipsoidal zone patients (x2 =1.00) and number of different types of macular edema patients (x2 =1.03)among the two groups (P＞0.05).The change in BCV.A.and CMT at 3,6 months between the two groups were compared.The relationship between BCVA at 6 months and BCVA,CMT at baseline were explored.The relationship between three groups of ellipsoidal zone and BCVA at baseline were evaluated.The change of BCVA after treatment between the three groups of ellipsoidal zone were Compared.The number of intravitreal injections between two groups was compared.Results During the 3,6 months after treatment,the mean BCVA were all improved with statistically difference in group A 0=5.13,7.39;P＜0.05) and group B (t=6.60,11.52;P＜0.05).There was no significant difference of BCVA at 3,6 moths between group A and group B (t=-0.99,-0.40;P＞0.05).During the 3,6 months after treatment,the mean CMT were all decreased with statistically difference in group A (t=11.58,i5.96;P＜0.05) and group B (t=18.77,35.16;P＜0.05).There was no significant difference of CMT at 3,6 months between group A and group B (t=-1.52,-1.63;P＞0.05).In both groups,BCVA at 6 months was related to BCVA at baseline (r=0.44,0.62;P＜0.05),but not related to CMT at baseline (r=0.19,0.01;P＞0.05).In the two groups,BCVA at baseline was related to the integrity of ellipsoidal zone (r=0.97,0.70;P＜0.05).There was statistical difference of the number of intravitreal injections in the two groups (t =-6.88,P＜0.05).There was no systemic or ocular serious side effects during the follow up.Conclusions Comparing to ranibizumab,conbercept has the same effective to the treatment of macular edema in CRVO,but the number of intravitreal injections is less.The integrity of ellipsoidal zone is related to BCVA.
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Objective To assess the consistency of diagnostic results using optical coherence tomography angiography (OCTA) and fundus fluorescein angiography (FFA) in the central retinal vein occlusion (CRVO).Methods This is a retrospective case series of 26 eyes of 26 patients with CRVO.There were 10 females (10 eyes) and 16 males (16 eyes).The mean age was (49.19±10.50) years.The mean course of the disease was (27.81± 21.60) days.Simultaneous OCTA and FFA were performed in all patients using 7-standard field of Early Treatment Diabetic Retinopathy Study (ETDRS) to evaluate the microaneurysms,nonperfused areas,optical disc/retinal neovascularization and maeular edema.The consistency was evaluated using weighted Kappa statistic values.Kappa≥0.76,consistency is excellent;0.60≤Kappa＜0.75,consistency is good;0.40≤Kappa＜0.60,consistency is general;Kappa＜0.40,consistency is poor.Results Based on OCTA,microaneurysms were found in 23 eyes,nonperfused areas in 16 eyes,optical disc/retinal neovascularization in 8 eyes and macular edema in 21 eyes.Based on FFA,23 eyes were diagnosed to have microaneurysms,14 eyes have nonperfused area,8 eyes have optical disc/retinal neovascularization,22 eyes have macular edema.The consistency was excellent for microaneurysms and optical disc/retinal neovascularization (Kappa=0.772,0.766;P＜0.01),good for nonperfused areas and macular edema (Kappa =0.703,0.600,P＜ 0v01).Conclusion There is high consistency between OCTA and FFA in the diagnosis of microaneurysms,macular edema,nonperfused areas and optical disc/retinal neovascularization in CRVO patients.
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Objective To compare the efficacy of photodynamic therapy (PDT) alone or in combined with ranibizumab versus ranibizumab monotherapy (intravitreal injection,IVR) in patients with polypoidal choroidal vasculopathy (PCV).Methods 80 eyes of 72 patients with PCV were enrolled into this retrospective and comparative study according to their therapeutic plan.30 eyes of 28 patients,28 eyes of 30 patients and 22 eyes of 21 patients were divided into PDT group,ranibizumab 0.5 mg group (IVR group) or the combination group,respectively.The patients with PCV were diagnosed according to clinical symptoms,optical coherence tomography (OCT) and fluorescent indocyanine green angiography (ICGA).The baseline best-corrected visual acuity (BCVA) before treatment was more than 0.05,and there was no retinal fibrosis and scar for all patients.There was no statistical difference of age (F=0.187),gender (x2 =0.423),average BCVA (F=1.120) and central retinal thickness (CRT) (F=0.431) among three groups (P＞0.05).They had not received any treatment before.Patients received verteporfin PDT in PDT group,3 consecutive monthly IVRs starting day 1 in IVR group,and 3 IVRs after 3 days,1 month,2 months of PDT starting day 1 in combination group.Re-treatment was considered 3 months later if the follow up shown no changes in fundus photography,OCT and ICGA.The average follow-up time was 19 months.BCVA at baseline and follow-up visit at 1,3,6,12 months was measured,and the proportion of patients with ICGA-assessed complete regression of polyps at month 6 was recorded as primary outcome.The CRT was measured at baseline and 6 months as secondary outcome.Results There were significant difference of BCVA at 1,3,6 and 12 months among three groups(F=5.480,5.249,3.222,4.711;P＜0.05).The average BCVA was significantly better at 1,3,6,12 month than that at baseline(t =-6.632,-4.127,-3.904,-4.494;P＜ 0.05) in combination group,and was significantly better at 3,6,12 months than that at baseline (t=-5.636,-3.039,-3.833;P＜0.05) in IVR group.However there was no significant difference of the average BCVA in PDT group between follow-up at 1,3,6,l 2 months and baseline (t=1.973,0.102,-0.100,-0.761;P＞0.05).The proportion of patients with complete regression of polyps at 6 months was higher in PDT (76.7％) or combination group (68.2％) than IVR group (35.7％) (x2=0.003,0.025;P＜0.05).There was no significant difference of CRT among 3 groups at baseline (P=0.651).The mean CRT decreased in all 3 treatment groups over 6 months (t=5.120,3.635,5.253;P＜0.05),but there was no significant difference of CRT among 3 groups (F=1.293,P＞ 0.05).Conclusions Three therapies could effectively decrease CRT.IVR or IVR combined with PDT are both more effective than PDT therapy to improve vision of PCV patients.PDT or PDT combined with IVR was superior to IVR pnly in achieving complete regression of polyps in 6 months in PCV patients.
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Background Corneal chemical burn is one of blinding eye diseases.Previous therapies for corneal chemical burn is limited to certain extent.However,transplantation of adipose-derived mesenchymal stem cells (ADSCs) for corneal diseases is drawing more and more attention.Objective This study was to observe the effect of rabbit ADSCs transplantation for ocular alkali burns and explore its mechanism.Methods Rabbit corneal stromal cells (CSCs) were isolated and cultured by suspended matrix method,and rabbit ADSCs were obtained and digested from inguinal fat tissue with enzyme digestion method (0.25％ trypsin) and identified by flow cytometry.CSCs cocultured with ADSCs,and CSCs-induced ADSCs were identified by double-label of with immunofluorescence and reverse transcription PCR (RT-PCR).Then induced or uninduced ADSCs were inoculated on amniotic membrane to prepared ADSCs-amnion patch.Corneal alkali burn models were established in the right eyes of 60 New Zealand rabbits by placing a filter paper with 1％ NaOH solution at the central cornea for 50 seconds.The models were randomized into the induced ADSCs+ amnion implanted group,the uninduced ADSCs + amnion implanting group,amnion implanted group and model group.Corneal opacification and neovascular area were examined and corneal inflammation was graded by slit lamp microscope 1 week,2 weeks and 1 month after surgery.The contents of CD45,interferon-γ (IFN-γ) and interleukin-10 (IL-10) in corneal homogenate as well as vascular endothelial growth factor (VEGF) in aqueous humor were detected by ELISA assay.The use and care of experiment animals followed the Statement of ARVO.Results ADSCs showed the positive responses for CD105,CD29,CD44 with the positive rate 90.23 ％,88.56％ and 98.88％,respectively.CSCs was positively reactive for vimentin.The double-label staining was positive after coculture of CSCs with ADSCs.Hematoxylin-eosin stain exhibited that ADSCs grew well on the amnion.Corneal porcelain opacity and a lot of new blood vessels were seen in the model group,and corneal was clear in the induced ADSCs+ amnion implanted group 1 month after surgery.The inflammatory scores were 1.65 ±0.18,2.05 ± 0.17,2.68±0.25,2.90 ±0.18,and the areas of neovasculization were (10.59 ± 1.78),(22.58 ± 1.63),(37.98 ± 1.90),(45.37±1.65)mm2 respectively in the induced ADSCs+ amnion implanted group,uninduced ADSCs+ amnion implanted group,amnion implanted group and the model group.The inflammatory scores of 1 week,2 weeks,1 month after operation among the four groups had statistically significant differences (F =280.826,330.172,465.707,all at P =0.000),and the areas of neovasculization of 1 week,2 weeks,1 month after operation among the four groups had statistically significant differences (F=60.020,670.811,1 510.231,all at P =0.000),the inflammatory scores in the induced ADSCs + amnion implanted group were remarkably lower than those of the other groups,the areas of neovasculization in the induced ADSCs+ amnion inplanted group were smaller than those of the other groups (all at P＜0.01).In 1 month after surgery,the contents of CD45,IL-10,IFN-γ in cornea and VEGF in aqueous humor were statistically different among the groups(F =916.545,1 739.358,462.134,129.126,all at P =0.000).Compared with the uninduced ADSCs+ amnion implanted group,amnion implanted group and the model group,CD45 and IFN-γ contents were declined,and IL-10 content was elavated in the induced ADSCs+ amnion implanted group (all at P＜ 0.01).In addition,VEGF contents in aqueous humor were significantly lower than those in the other groups (all at P＜0.01).Conclusions Rabbit CSCs-induced ADSCs amnion patch transplantation is effective for the reconstruction of ocular surface after alkali damage probably by differentiation of ADSCs into epithelial-like cell after CSCs induced.Moreover,amnion can alleviate immuno-inflammatory response and suppress neovascularization.
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Objective To investigate the electrophysiological properties of retinal ganglion cells(RGCs) in Long Evans rats during different postnatal developmental stages so as to explore the intracellular mechanism of retinal neuron maturation. Methods Whole cell patch clamp recordings of RGCs in acute retinal slices of Long Evans rats (postnatal days 3 to 31) were performed. Depolarizing current pulses of different densities were inflicted on RGCs to evoke action potentials(AP) . Results A total of 94 RGCs, single spike cells, transient and sustained cells, were acquired in 33 rats. The proportion of the three types of TGCs was different. There was significant difference in electrophysiological properties. Conclusion During the period of postnatal development, gradually matured electrophysiological properties of RGCs and differences in amplitudes and frequencies of AP suggest that different types of RGCs may play different roles in coding and transmitting spatial and temporal information.
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Objective To compare the differences of the electrophysiological and morphological properties of retinal ganglion cells (RGCs) in Long Evans and Wistar rats. Methods Whole cell patch clamp recordings were made from RGCs in the acute retinal slices of Long Evans and Wistar rats aged postnatal 0-31 d. RGCs were stained with Lucifer Yellow diffused into cells during whole-cell recordings for the purpose of morphological study. The sections of rat retinas by HE staining were examined by light microscopy. Results The differences of electrophysiological properties in Long Evans and Wistar rats were not significant. There were pigment granules in retinal pigment epithelial cells of Long Evans but not in those of Wistar rats. Conclusion Long Evans rats can be the good animal model for visual and neural science research in place of Wistar rats.