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Objective To analysis the pathogenic mutation and the clinical characteristics of a three generation family with congenital pulverulent cataract. Methods A congenital cataract family was chosen from the First Affiliated Hospital of AnHui Medical University,5 ml peripheral blood was obtained from each family member to extract genomic DNA. Next generation sequencing was used to detect the mutation in proband (Ⅱ5),Ⅱ6 and Ⅲ8, and Sanger sequencing was applied to verify pathogenic mutation in the whole family members. The mutation site was compared with the gene sequence of 10000 normal Chinese. PolyPhen-2 and SIFT were applied to analysis the alteration on the protein structure and function and its possible pathogenesis. This study followed the Declaration of Helsinki and was approved by the Ethics Committee of AnHui Medical University ( NO. PJ2017-5-17 ) . All patients signed informed consent. Results The pedigree consisted of 19 members of three generations,including 10 patients and 9 normal family members. Heterozygous mutation of GJA3 gene c. 427G>A ( p. G143R) was detected in all patients of the pedigree,but was not found in normal members of the pedigree and 10000 normal Chinese. The score calculated from SIFT and PolyPhen-2 indicated that the mutation probably had malignant effect on normal protein structure,Swiss-model website analysis showed that the mutation likely altered the secondary structure of the protein CX 46 by reducing anα-helix between 107-115 amino acids. Meanwhile,c. 1325-1G>T mutation of HSF4 gene were detected in Ⅱ5 and Ⅲ8, which was not found in other family members and 10000 normal Chinese. HSF and MaxEntScan results showed that the mutation probably had serious effect on the splicing of mRNA. The cataract development rates of Ⅱ5 andⅢ8 were faster than that of the same age in the same generation of the pedigree,and the morphology of lens opacity was changed. Conclusions The heterozygous c. 427G>A mutation in GJA3 gene is responsible for pulverulent cataract in this family,meanwhile the c. 1325-1G>T mutation in HSF4 gene may change the type of phacoscotasmus and accelerate the progress of disease.
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Objective@#To analysis the pathogenic mutation and the clinical characteristics of a three generation family with congenital pulverulent cataract.@*Methods@#A congenital cataract family was chosen from the First Affiliated Hospital of AnHui Medical University, 5 ml peripheral blood was obtained from each family member to extract genomic DNA.Next generation sequencing was used to detect the mutation in proband (Ⅱ5), Ⅱ6 and Ⅲ8, and Sanger sequencing was applied to verify pathogenic mutation in the whole family members.The mutation site was compared with the gene sequence of 10 000 normal Chinese.PolyPhen-2 and SIFT were applied to analysis the alteration on the protein structure and function and its possible pathogenesis.This study followed the Declaration of Helsinki and was approved by the Ethics Committee of AnHui Medical University (NO.PJ2017-5-17). All patients signed informed consent.@*Results@#The pedigree consisted of 19 members of three generations, including 10 patients and 9 normal family members.Heterozygous mutation of GJA3 gene c. 427G>A (p.G143R) was detected in all patients of the pedigree, but was not found in normal members of the pedigree and 10 000 normal Chinese.The score calculated from SIFT and PolyPhen-2 indicated that the mutation probably had malignant effect on normal protein structure, Swiss-model website analysis showed that the mutation likely altered the secondary structure of the protein CX 46 by reducing an α-helix between 107-115 amino acids.Meanwhile, c.1325-1G>T mutation of HSF4 gene were detected in Ⅱ5 and Ⅲ8, which was not found in other family members and 10 000 normal Chinese.HSF and MaxEntScan results showed that the mutation probably had serious effect on the splicing of mRNA.The cataract development rates of Ⅱ5 and Ⅲ8 were faster than that of the same age in the same generation of the pedigree, and the morphology of lens opacity was changed.@*Conclusions@#The heterozygous c. 427G>A mutation in GJA3 gene is responsible for pulverulent cataract in this family, meanwhile the c. 1325-1G>T mutation in HSF4 gene may change the type of phacoscotasmus and accelerate the progress of disease.
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Objective To compare the early change of posterior corneal elevation with femtosecond laser assisted laser in situ keratomileusis (FS-LASIK) and sub-Bowman keratomileusis (SBK) by Oculyzer and analyze the related factors after FS-LASIK.Methods A longitudinal observational study was designed.Ninety-one eyes of 46 patients with myopia or myopic astigmatism in the First Affiliated Hospital of Anhui Medical University from January to April in 2016 were divided into FS-LASIK group (53 eyes of 27 patients),SBK group (38 eyes of 19 patients)according to the patients' wishes and each part of corneal elevation change values were explored after FS-LASIK and SBK surgeries.The posterior corneal elevation was measured at twenty-seven measuring points along the central,paracentral,midperipheral and peripheral zone (vertex and 1,2 and 3 mm radius) using Oculyzer preoperatively,l day,7 days and 1 month postoperatively,respectively.Written informed consent was obtained from each patient before the surgery.Results In the FS-LASIK group,the posterior corneal elevation difference values in the central zone were (-0.924± 1.859),(-1.151 ± 1.586) and (-0.940 ± 1.994) μm 1 day,7 days and 1 month postoperatively,respectively.In the periphery zone,the elevation difference values were (1.046 ± 1.667),(1.172 ± 1.566) and (1.023±1.622)μm.In the paracentral and midperipheral zone,the cornea displayed slightly backward or forward shift.In SBK group,the posterior corneal elevation difference values of the ve,ex were (-0.684 ± 1.454),(-1.053 ±1.723) and (-0.553 ± 1.572) μm 1 day,7 days and 1 month after operation,respectively.In the paracentral and midperipheral zone displayed the same trend with FS-LASIK group,and in the periphery,the values were (1.207 ±1.317),(1.327 ± 1.529) and (1.208 ± 1.415) μm.There were no statistically significant differences in posterior corneal elevation between the two surgery modes among the three time points (all at P ＞ O.05).At 1 month postoperatively,only two independent variables,which were spherical equivalent (SE) and ablation depth (AD)entered the regression in the central and paracentral zones.Independent variables,such as central thinnest corneal thickness (TCT),SE,AD,residual bed thickness (RBT) and the ratio of AD and TCT (AD/TCT) did not enter the regression in other two areas.Conclusions The posterior corneal elevation in the central 6 mm area shows tiny change in the early stage and the variation is larger 7 days after operation in the two groups,but it does not result in keratectasia.With the increase of SE and AD,the posterior corneal elevation is more likely to be affected.
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Objective To investigate the relationship between p53 and miR-29b in myofibroblasts (MFs)induced from human Tenon fibroblasts (HTFs).Methods Human Tenon tissues were obtained from strabismus surgery patients in the First Affiliated Hospital of Anhui Medical University from March to July 2016.The primary HTFs were cultured by tissue culture method and passaged to 2-4 generations.The cells were divided into 4 groups:HTFs group cells were normally cultured,the TGF-β1 activation group cells was activated with 10 ng/ml tumor necrosis factorβ1 (TGF-β1),the siRNA transfection group and the negative control group were transfected with p53 siRNA and negative siRNA,respectively.The expression of p53 protein and cell migration ability of HTFs and MFs were detected by immunohistochemical and cell scratch assay.The relative expression level of miR-29b and p53 mRNA in each group was detected by real-time PCR.This study followed the Helsinki declaration and the patients or their guardians signed informed consent.Results The primary HTFs had long fusiform shape,and were arranged in a spiral shape.After activated by TGF-β1,the cells were transformed into MFs,and the cell morphology was irregular and the arrangement was disordered.The staining intensity of p53 protein in TGF-β1 activation group was significantly stronger than that in HTFs group (t =-10.384,P＜0.05).The migration distance of TGF-β1 activation group cells was significantly larger than that of HTFs group (P＜0.05).The relative expression level of p53 mRNA was 1.00±0.00,3.95±2.61,0.06±0.06 and 0.98±0.16 in HTFs group,TGF-β1 activation group,siRNA transfection group and negative control group,respectively;the relative expression levels of miR-29b was 1.00±0.00,0.54±0.09,5.10±2.31 and 1.03 ±0.09 in HTFs group,TGF-β31 activation group,siRNA transfection group and negative control group,respectively;the overall differences were statistically significant (p53 mRNA:F =6.688,P =0.006;miR-29b:F=13.640,P=0.000).The relative expression of p53 mRNA was significantly higher and the relative expression of miR-29b was significantly lower in the TGFβ1 activation groups than those in the HTFs group and siRNA transfection group,the differences were statistically significant (all at P＜0.05).Conclusions During the process of HTFs transforming to MFs,the expression of p53 is upregulated and the expression of miR-29b is downregulated,Supressing the expression of p53 can upregulate the expression of miR-29b.There may exist interactions between p53 and miR-29b,which regulate the formation of fibrotic scars.
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Objective To evaluate the effectiveness,safety,predictability and stability of a new posterior chamber implantable collamer lens with central hole to correct myopia.Methods 111 eyes of 58 patients were evaluated,including uncorrected (UCVA) and best corrected (BCVA) visual acuities,spherical equivalent(SE),cylindrical equivalent(CE),contrast sensitivity,intraocular pressure evaluated preoperatively.75 eyes of 41 patients were implanted with ICL V4c(ICL group) while 36 eyes of 21 patients were implanted with Toric ICL V4c(TICL group).Postoperative observation and adverse events were evaluated over 3 months follow-up.Results 3 months after surgery,the mean UCVA in ICL group was 1.0 or better in 58.67%.The UCVA of 61 eyes (95.31%) was more than BCVA before operation.The mean SE was (-0.26±1.16) D,66.67% of 50 eyes were within ±0.50 D.The safety and efficacy indices were 1.37 and 1.31,respectively.The mean UCVA in TICL group was 1.0 or better in 86.11%.The UCVA of 32 eyes (96.97%) was more than BCVA before operation.The mean SE was (0.08±0.84) D,63.89% of 23 eyes were within ±0.50 D.And the mean CE was (-0.34±0.54) D,66.67% of 24 eyes were within±0.50D.The safety and efficacy indices were 1.32 and 1.30,respectively.The postoperative contrast sensitivity values in two groups were found significantly higher than those of the preoperative eyes.The IOP remained stable over time.Conclusion Implantation of the posterior chamber ICL with a central hole is effective,safe,predictable,and stable for the correction of high myopia.
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Objective To assess the expression of the corneal epithelial TJ protein claudin -1 in type 2 diabetic rats at different time points.Methods 80 eight-week-old male SD rats were randomly divided into the normal control and diabetic mellitus(DM) groups(n =40 each).A high-fat diet combined with STZ injection was used to induce type 2 DM.Normal and diabetic rats were sacrificed at 4, 8, 16 weeks respectively(after STZ injection) before de-bridement.Hematoxylin and eosin was used to study the morphological differences between normal and diabetic cor -nea.Immunofluorescene and Western blot were used to determine the expression of corneal epithelial TJ protein claudin-1.Results Corneal epithelial cells reduction and stroma edema were evident at 8 and 16 weeks by HE. Claudin-1 expression in the corneal epithelium of the diabetic group was lower and fainter compared to the normal group at 16 weeks(after STZ injection)(P <0.05), which were similar to the normal group at 4 and 8 weeks.Con-clusion Continual hyperglycemia has a negative effect on ocular surface tissues and the expression of corneal epi -thelial tight junction protein claudin -1 with progressing of type 2 diabetic mellitus.
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Due to lack of the practical technique to measure the biomechanical properties of the ocular cornea in vivo, clinical ophthalmologists have some difficulties in understanding the deformation mechanism of the cornea under the action of physiological intraocular pressures. Using Young's theory analysis of the corneal deformation during applanation tonometry, the relation between the elasticity moduli of the cornea and the applanated corneal area and the measured and true intraocular pressures can be obtained. A new applanation technique has been developed for measuring the biomechanical properties of the ocular cornea tissue in vivo, which can simultaneously acquire the data of the applanation area and displacement of the corneal deformation as well as the exerted applanation force on the cornea. Experimental results on a rabbit's eyeball demonstrated that the present technique could be used to measure the elasticity moduli and creep properties of the ocular cornea nondestructively in vivo.
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Animals , Rabbits , Biomechanical Phenomena , Cornea , Elastic Modulus , Intraocular Pressure , Muscles , Tonometry, OcularABSTRACT
84 eyes that underwent femtosecond laser-assisted laser in situ keratomileusis ( FS-LASIK) , and 110 eyes that underwent small incision lenticule extraction ( SMILE) surgery were included in this prospective case se-ries study. HOAs included ( total HOAs, spherical aberration, horizontal coma aberration, and vertical coma aber-ration) were measured preoperatively after 1 week, 1 month , and 3 months postoperatively by Pentacam. The ab-errations were described as Zernike polynomials. Significantly increased total HOAs and SA and significantly de-creased vertical coma were noted at 1 week, 1 month, and 3 months after FS-LASIK ( P<0.05 ) . However, no significant increase was found in postoperatively horizontal coma. There were significant increases in total HOAs, SA, and horizontal coma and a decrease in the vertical coma at each postoperative examination in SIMLE group ( P<0.05 ) . The total HOAs and SA were significantly smaller in SMILE group than that in FS-LASIK group at 1 week, 1 month, and 3 months postoperatively. The changes in total HOAs and SA were also significantly smaller in SMILE group than that in FS-LASIK group at each postoperative examination. Compared with FS-LASIK, SMILE can induce fewer total higher-order aberrations and spherical aberration after operation.
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A total of 60 myopia patients (120 eyes) who were going to undergo myopia LASIK were selected in this study. The patients were divided into two groups of anisometropia and non-anisometropia,each group had 30 patients (60 eyes). Checked vision, fusion range,near and distant stereoscopic at 10 day pre-operation and at 1,3 and 6 month in post operation. After the LASIK, all of 60 patients' anisometropia were significantly reduced, binocular stereopsis were obviously improved than pre-operation, especially the anisometropia group; the binocular fusion range also got better,but there was no significant difference between the two groups. This study clarified that the visual function of anisometropia could be improved after LASIK.
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This restrospective case included 40 patients(79eyes)who underwent implantable collamer lens or toric implantable collamer lens implacement. Uncorrected and corrected distance visual acuities, refractions, posterior chamber intraocular lens vault,intraocular pressure,endothelial cell loss,cylinder axis of the toric intraocular lens were evaluated for moderate to high myopia and astigmatism. 2 years or above after operation mean uncorrected and corrected distance visual acuities were 0.830±0.269 and 0.980±0.241 respectively. The mean spherical equiva-lent was ( -0.66±1.08) D postoperatively. 29 eyes had implanted toric intraocular lens, which 24 eyes were un-der 15 degrees of the intended axis, 1 eye was under 30 degrees of the intended axis and 4 eyes were above 30 de-grees of the intended axis. The mean intraocular pressure was(1.76±0.41)kPa. The endothelial cell density loss was 11.18%. The mean vaults at 6 months and 2 years or above were (0.510±0.141)mm and (0.442±0.117) mm respectively. A statistically significant difference was found ( P <0.05 ) . Two sets of data were in the normal range. Phakic posterior chamber intraocular lens implantation appears safe and effective,which provides long-term predictable,stable refractive results.