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Purpose: To observe the relationship between myopia progression and changes in retinal thickness during one year of follow-up among primary school children. Methods: The study included 1161 eyes of 708 myopic children, with 616 (53.06%) right eyes and 545 (46.94%) left eyes. The participants underwent a comprehensive ophthalmic examination, including visual acuity, axial length (AL), autorefraction, and optical coherence tomography (OCT) examination in 2016 and in 2017. An analysis was conducted on the differences in retinal thickness between different genders and between high myopia and nonhigh myopia. Furthermore, the study delved into the correlation between the progression of myopia and the changes of retinal thickness. Results: The average diopter was -1.83 ± 1.29D, average AL was 23.78 ± 0.94 mm, and average foveal thickness was 228.02 ± 23.00 µm. For the inner retina, the median value [the lower quartile value, the upper quartile value] of the foveal thickness was thicker in the high myopia group than the nonhigh myopia group (67 [64; 74] µm vs. 63 [56; 70] µm), while the parafoveal region and perifoveal region were thinner in the high myopia group than the nonhigh myopia group (106 [100; 123] µm vs. 124 [117; 130] µm; 95.0 [93; 102] µm vs. 104 [100; 108] µm). Among all the children with myopia, 67.53% (784/1161) of them have a diopter progression within one year. The AL progression was 95.43% (1108/1161). The retinal thickness of all children has slightly increased in various regions. As the AL of the eye increased and the diopter decreased, the progression degree of inner retinal thickness and full retinal thickness (exclusive of full fovea) decreased. Conclusion: For the school-age myopic children, the inner foveal retinal thickness were thicker in highly myopic students than in the nonhighly myopic students, while the parafoveal and perifoveal retina were thinner in highly myopic students. The inner and full retinal thicknesses of male students were thicker than that of females. The progression of myopia mainly affected the changes of the inner retinal thickness in the one-year follow-up.
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OBJECTIVE: This study aims to examine the characteristics and influencing factors of crystalline lens tilt and decentration in ultra-high myopic cataract patients, as measured by the CASIA2. METHODS AND ANALYSIS: 60 eyes scheduled for cataract surgery with an axial length (AL) ≥ 28â mm were included. The IOLMaster700 was utilized to measure AL and the white-to-white (WTW) distance. The CASIA2 was employed to measure front curvature radius (FCR), crystalline lens tilt, and crystalline lens decentration. The relationships between lens tilt, decentration, and related factors were evaluated. RESULTS: The degree of lens tilt was 4.62 ± 2.44°, and the decentration was 0.20 (Q1 0.13, Q3 0.28) mm. Among the 60 eyes, 11 (18.3%) had a tilt ≥7°, and 6 (10%) had a decentratiolens tilt ≥7° (P = 0.038, P = 0.018). Eyes with AL >30.00â mm and FCR <8.45â mm had a higher degree of lens tilt. Additionally, a tilt ≥7° was associated with a greater decentration (P = 0.032), n. CONCLUSION: Preoperative crystalline lenses in eyes with ultra-high myopia and cataract exhibit certain degrees of tilt and decentration. An AL >30â mm is a risk factor for a lens tilt ≥7° and an decentration ≥0.4â mm. An FCR <8.45â mm is a risk factor for increased lens tilt, and a tilt ≥7° is a risk factor for increased lens decentrati ≥ 0.4â mm. An increase in AL and FCR <8.45â mm were risk factors for a and eyes with AL >30.00â mm had a higher degree of decentration (P = 0.005).
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PURPOSE: The aim of the study is to evaluate the effect of capsular tension ring (CTR) implantation following cataract surgery on the refractive outcomes of patients with extreme high axial myopia. METHODS: Sixty eyes (with an axial length of ≥26 mm) were retrospectively reviewed and classified into two groups: CTR group (n = 30), which underwent CTR implantation following phacoemulsification, and control group (n = 30), which did not undergo CTR implantation. Intraocular lens (IOL) calculation was performed using Barrett Universal II (UII), Haigis, and SRK/T formulas. The refractive prediction error (PE) was calculated by subtracting the postoperative refraction from predicted refraction. The mean PE (MPE), mean absolute error (MAE), and percentages of eyes that had a PE of ±0.25, ±0.50, ±1.00, or ±2.00 diopters (D) were calculated and compared. RESULTS: No significant differences were observed in PE between the two groups. The Barrett UII formula revealed a lower AE in the CTR group than in the control group (p = 0.015) and a lower AE than the other two formulas (p = 0.0000) in both groups. The Barrett UII formula achieved the highest percentage of eyes with a PE of ±0.25 D (66.67%). CONCLUSIONS: The refractive outcomes were more accurate in eyes with CTR implantation than in those with routine phacoemulsification based on the Barrett UII formula. The Barrett UII formula was recommended as the appropriate formula when planning CTR implantation in high myopia.
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Lentes Intraoculares , Miopia , Facoemulsificação , Humanos , Facoemulsificação/efeitos adversos , Estudos Retrospectivos , Implante de Lente Intraocular , Comprimento Axial do Olho , Refração Ocular , Miopia/cirurgiaRESUMO
Posterior capsule opacification (PCO) is the most common postoperative complication of cataract surgery. Transforming growth factor-ß (TGF-ß) is related to epithelial-mesenchymal transition (EMT) of lens epithelial cells (LECs) that is proven to induce PCO formation in clinical and experimental studies. In this study, CRISPR sequences targeting exon of TGF-ßRII were knocked out with lentiviral transfection in LECs. Rabbits' PCO model was established and recombinant adeno-associated virus (AAV) for transferring the gRNA of TGF ßRII were intravitreally injected. SgRNA inhibited TGF-ßRII expression and human LECs proliferation. In TGF-ßRII knockout group, LECs motility and migration were suppressed, N-cadherin and vimentin expressions were significantly decreased, whereas E-cadherin was increased. The animal model showed that TGF-ßRII knockout in vivo was effective in suppressing PCO. The current study suggested that the CRISPR/Cas9 endonuclease system could suppress TGF-ßRII secretion, which participates in the EMT procedure of LECs in vitro and PCO in vivo. These findings might provide a new gene-editing approach and insight into a novel therapeutic strategy for PCO.
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Opacificação da Cápsula , Cristalino , Animais , Humanos , Coelhos , Opacificação da Cápsula/genética , Opacificação da Cápsula/metabolismo , Sistemas CRISPR-Cas/genética , RNA Guia de Sistemas CRISPR-Cas , Cristalino/metabolismo , Células Epiteliais , Transição Epitelial-Mesenquimal/genética , Epitélio/metabolismo , Movimento Celular , Proliferação de CélulasRESUMO
BACKGROUND: Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts. Although previous studies had shown that mutations in the γD-crystallin (CRYGD) can result in congenital coralliform cataracts, no conclusive genotype-phenotype correlation might be drawn. Here we aimed to identify the spectrum and frequency of CRYGD gene mutations in congenital coralliform cataracts of Chinese origin. METHODS: The medical records of 392 Chinese families with congenital cataracts were reviewed between January 2011 and December 2021. The families, clinically documented to have congenital coralliform cataracts, were screened for mutations in candidate CRYGD gene. The genomic DNA of all subjects was extracted from peripheral blood leukocytes. PCR amplified and direct sequencing were performed to identify the disease-causing mutation. RESULTS: A total of 12 families with coralliform cataracts were recruited in this study in the past 10 years, accounting for 3.1% of the families with congenital cataracts. Of the 12 families, all affected individuals presented with bilateral non-progressive coralliform cataracts since birth, with the best-corrected Snellen visual acuities ranging from 20/200 to 20/25. A recurrent c.70 C > A (p. P24T) mutation in CRYGD was identified in 10 families (83.3%) with congenital cataract, which co-segregated with all affected individuals and was not observed in unaffected family members or ethnically matched normal controls. CONCLUSIONS: The coralliform cataract is characterized by being bilateral, non-progressive and present at birth. A recurrent p.P24T CRYGD mutation occurs independently in 83.3% of the Chinese families with congenital coralliform cataracts and most likely represents a mutational hot spot, which underscore the relations between coralliform cataract and p.P24T CRYGD.
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Catarata , Cristalinas , gama-Cristalinas , Humanos , Povo Asiático , Catarata/congênito , Catarata/genética , gama-Cristalinas/genética , Leucócitos , Mutação/genéticaRESUMO
PURPOSE: To compare the accuracy of three intraocular lens (IOL) formulas in Chinese cataract patients with prior radial keratotomy (RK). METHODS: Medical records of cataract patients with prior RK at Beijing Tongren Hospital were retrospectively analysed. The absolute error (AE) was calculated as the absolute difference between the actual postoperative spherical equivalent and the predicted spherical equivalent. The AE and percentages of eyes with AE within 0.5D, 1.0D, and 2.0D for three formulas [Barrett True-K, Holladay 1 (D-K), Haigis] were calculated and compared. RESULTS: Forty-seven eyes of 28 cataract patients were included. The Median AE (MedAE) was significantly different among the three formulas (P < 0.001). The MedAE was lowest for the Barrett True-K formula (0.62), followed by the Haigis (0.76), and Holladay 1 (D-K) (1.16). The percentages of eyes with AE within 0.5D, and 1.0D were significantly different among the 3 formulas (P = 0.009, and P < 0.001). The Barrett True-K formula achieved the highest percentages (46.8%) of eyes with AE within 0.5D. Haigis achieved the highest percentages (70.21%) of eyes with AE within 1.0 D. CONCLUSIONS: Barrett True-K is the most accurate IOL power calculation formula among the 3 formulas and Haigis is an alternative choice. Considering the relatively lower accuracy of IOL formulas in cataract patients with prior RK, newer and more accurate IOL formulas are desirable.
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Catarata , Ceratotomia Radial , Lentes Intraoculares , Humanos , Estudos Retrospectivos , Refração Ocular , Catarata/complicaçõesRESUMO
PURPOSE: To compare 6 methods for intraoperative pupil dilatation in eyes with insufficient pupil size during phacoemulsification. METHODS: This was a prospective case-control study. 99 microcoria cataract patients (120 eyes) were collected and were divided into 6 groups(20 eyes each group), and their pupils were dilated by bimanual stretching pupil (group I), pupil radial cut open(group II), mechanical pupil dilatation with iris-retractor hooks (group III), OASIS iris expander (group IV), and Malyguin-ring (Microsurgical company, America) (group V), B-HEX Pupil Expander (Med Invent Devics, India)(group VI),respectively. 3.0 mm clear corneal incision were used in phacoemulsification. All cases were followed up at 1 week and 1, 3, 6 months after the surgery. The best corrected visual acuity (BCVA), intraocular pressure(IOP), corneal endothelium cell density(ECD), pupil diameter(PD) of before and after surgery were compared. RESULTS: One same doctor finished all cataract surgeries successfully. The eyes' condition before surgery and at 6 months after surgery were compared. There were no significant statistical differences for the conditions of the eyes before surgery among six groups. The ECDs were better at 6 months postoperatively in group III and V, median values: 2114/mm2, 1961/mm2. PD was largest in group II (median value: 5.5 mm), which was significantly larger than other groups (Padjusted < 0.05). CONCLUSIONS: All 6 methods used in this study were effective for the mechanical dilatation of small pupils and didn't affect the postoperative visual acuity and intraocular pressure in microcoria cataract phacoemulsification. Iris-retractor hooks and the Malyugin Ring can reduce intraoperative corneal endothelium cell loss. Postoperative PD is larger when the iris was cut open radially.
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Catarata , Doenças da Íris , Midríase , Facoemulsificação , Distúrbios Pupilares , Estudos de Casos e Controles , Dilatação , Anormalidades do Olho , Humanos , Doenças da Íris/cirurgia , Implante de Lente Intraocular/métodos , Miose/cirurgia , Facoemulsificação/métodos , Distúrbios Pupilares/cirurgiaRESUMO
PURPOSE: To study the association of myopia progression with the morphological changes of optic disc and ß-peripapillary atrophy (ß-PPA) in 8-11 years old primary school students. METHODS: This study was a prospective, school-based investigation. This study included 610 children (1008 eyes) who were continuously observed and had data available from 2016 to 2017 in the Sanhe Cohort Study of the Risk Factors for Myopia (SCSRFM). The children underwent a comprehensive eye examination including measurement of visual acuity, autorefractometry, and posterior segment of the eye. ß-PPA regions and optic disc ovality index were identified and measured on the fundus photographs. RESULTS: The prevalence of myopia was 72.62% (732/1008) in 2016. In myopic children, the prevalence of the vertical ß-PPA, the horizontal ß-PPA, and the oval optic disc were 75.68% (554/732), 75.96% (556/732) and, 11.61% (85/732) respectively. From 2016 to 2017, with the progression of vertical ß-PPA, horizontal ß-PPA, area of ß-PPA, and optic disc ovality index, the myopic diopter and the axial length (AL) were increased. The progression of horizontal ß-PPA was significantly correlated with the progression of myopic diopter and AL (all p < 0.05). The analysis on the distribution of progression rate of parameters in different groups found that the progression rate of horizontal ß-PPA, area of ß-PPA, and optic disc ovality index increased with the increase of the progression of diopter and AL. The progression of horizontal ß-PPA, area of ß-PPA, optic disc ovality index, and diopter in girls were greater than that in boys, and the progression of optic disc ovality index and diopter had a statistical significance (all p < 0.05). CONCLUSIONS: The 1-year follow-up study of the third-grade primary school students showed that with the progression of myopia and the growth of AL, ß-PPA and optic disc ovality index also changed. There was a positive correlation between the change of ß-PPA and optic disc ovality index and the progression of myopia diopter and AL.
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Miopia , Atrofia Óptica , Disco Óptico , Atrofia , Criança , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Miopia/diagnóstico , Miopia/epidemiologia , Miopia/patologia , Atrofia Óptica/diagnóstico , Atrofia Óptica/epidemiologia , Disco Óptico/patologia , Estudos Prospectivos , Instituições Acadêmicas , Estudantes , Tomografia de Coerência ÓpticaRESUMO
BACKGROUND: The present study sought to observe the effect of retaining intact posterior capsule in congenital cataract surgery in children aged 4-8 years. METHODS: This is a retrospective case control study. Seventy-seven children (130 eyes) aged from 4 to 8 years who underwent cataract surgery were divided into two groups. In Group A, 50 eyes underwent phacoemulsification, intraocular lens implantation and posterior capsule capsulotomy combined with anterior vitrectomy. In Group B, 80 eyes underwent cataract phacoemulsification and intraocular lens implantation. The postoperative visual acuity and the rate of complications were compared. RESULTS: In all patients, cataract surgeries were performed evenly without intraoperative complications. The follow-up time ranged from 6 months to 42 months. No apparent visual axis opacity was detected in group A during the follow-up. By the last visit, apparent visual axis opacity was detected in 31 eyes (38.75%) in group B. Among them, 9 eyes (29.03%) with mild posterior capsule opacification (PCO) were treated with Nd:YAG laser, 3 eyes (9.68%) with thick proliferative membranes were treated with posterior capsule capsulotomy combined with anterior vitrectomy and proliferative membranes in 19 eyes (61.29%) were completely aspired and the posterior capsule was retained. During follow-up, only 2 (6.45%) eyes had PCO recurrence and were treated with Nd:YAG laser. The visual acuity was significantly higher than that before surgery in all patients. CONCLUSIONS: For older children, the incidence of PCO will be low even if intact posterior capsule is retained. Either Nd:YAG laser or surgical treatment for PCO will be able to maintain good vision.
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Opacificação da Cápsula , Catarata , Cápsula do Cristalino , Lentes Intraoculares , Facoemulsificação , Adolescente , Opacificação da Cápsula/cirurgia , Estudos de Casos e Controles , Criança , Humanos , Cápsula do Cristalino/cirurgia , Implante de Lente Intraocular , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia , Estudos RetrospectivosRESUMO
PURPOSE: To observe the effect of phacoemulsification and intraocular lens (IOL) implantation with or without lens capsular tension ring (CTR) on retinitis pigmentosa (RP) combined with cataract patients. DESIGN: Retrospective cases series study. METHODS: Sixty-three cases (84 eyes) of RP with cataract were collected, including 30 males and 33 females. Phacoemulsification with 3.0 mm clear corneal incision was performed in all the patients. IOL and CTR implantation were performed in 44 eyes, and IOL implantation alone was performed in 40 eyes. All cases were followed up at 1 day, 1 week and 1, 3, 6,12 months after the surgery to compare the best-corrected visual acuity (BCVA), intraocular pressure (IOP), corneal endothelial cell count (ECC) and complications before and after the surgery. RESULTS: All surgery were successfully completed by the same physician, and IOL and CTR were all implanted in capsule without complications. The BCVA at 6 months after surgery was 0.91 ± 0.88 LogMAR, showing an improvement compared with the BCVA(1.3 ± 0.7LogMAR) before surgery and there was a statistically significant difference (P = .003). Four cases of capsule contraction syndrome (CCS) occurred in no CTR implantation group and there was no CCS in CTR group. There was a statistically significant difference in the incidence of CCS between two groups (P = .047). CONCLUSIONS: Phacoemulsification for RP combined with cataract is safe and reliable, and CTR implantation is conducive to reducing the complications caused by capsule contraction.
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Catarata , Cápsula do Cristalino , Retinose Pigmentar , Catarata/complicações , Feminino , Humanos , Cápsula do Cristalino/cirurgia , Implante de Lente Intraocular , Masculino , Complicações Pós-Operatórias/prevenção & controle , Retinose Pigmentar/complicações , Estudos RetrospectivosRESUMO
Purpose: To investigate the prevalence and clinical characteristics of myelinated retinal nerve fibre (MRNF) in a large teleophthalmology system.Methods: All records between January 2015 and December 2015 from Daheng Prust teleophthalmology system were reviewed by 2 ophthalmologists independently. MRNF was classified into continuous group and discontinuous group according to the relationship between MRNF patches and optic disc. The number, total area and location of MRNF patches were analysed. Concomitant ocular diseases were documented.Results: Out of 51469 subjects, MRNF was detected in 304 eyes of 263 subjects with a prevalence rate of 0.51 ± 7.1% per subject and 0.30 ± 5.4% per eye. Among 304 eyes with MRNF, 239 (78.6%) eyes were in continuous group and 65 (21.4%) eyes were in discontinuous group. Single MRNF patch was found in 249 (81.9%) eyes and multiple MRNF patches were found in 55 (18.1%) eyes. MRNF of small size was found in 150 (49.3%) eyes. The ratios of multiple MRNF patches and small-sized MRNF in the continuous group were significantly higher than those in the discontinuous group (P = .014 and P < .001). In continuous group, the MRNF patches were located most frequently in the superior region (68.6%) of the optic disc; In discontinuous group, the MRNF patches were located most frequently in the inferotemporal region (38.5%) of the retina. Epiretinal membrane (12 eyes, 3.9%) was the most common concomitant ocular disease.Conclusion: MRNF is uncommon in China. MRNF usually presents unilaterally and as a single small whitish patch that is connected with optic disc.
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Oftalmologia/métodos , Doenças Retinianas/epidemiologia , Células Ganglionares da Retina/patologia , Telemedicina/métodos , Acuidade Visual , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , China/epidemiologia , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Disco Óptico/patologia , Prevalência , Doenças Retinianas/diagnóstico , Doenças Retinianas/fisiopatologia , Estudos Retrospectivos , Adulto JovemRESUMO
In cataract surgery, it is often found that patients infected hepatitis B virus (HBV) are likely to suffer from more pain than other patients. In order to assess the inflammation status of the aqueous humor in the eyes of cataract patients infected with HBV. RayBio Human Inflammation Array was used to assay aqueous humor samples collected from 14 eyes of patients infected with HBV and 14 eyes of cataract patients without HBV infection (the controls) during the cataract surgery. RayBio Human Quantibody Cutom Array was adopted for the validation of the screened cytokines, with aqueous humor samples collected from 40 eyes of patients infected with HBV and 40 eyes of the controls. A pain questionnaire survey about the surgery was conducted in all patients after operation. The results of questionnaire showed that patients infected with HBV were more likely to have pain during operation. The Human Inflammation Array revealed that the expression levels of monocyte chemoattractant protein-1 (MCP-1), tumor necrosis factor α (TNF-α) and tumor necrosis factor ß (TNF-ß) were very high in HBV infected patients and IL-1ra was much lower in patients infected with HBV (all, P < 0.05). In validation, the Human Quantibody Cutom Array revealed that the expression levels of MCP-1 and TNF-α were high in HBV infected patients with significant difference (all P < 0.05). These results revealed that pain-related inflammatory factors MCP-1 and TNF-α were increased in aqueous humor of cataract patients infected with HBV, which indicates that patients infected with HBV may be more prone to intraoperative pain.
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Humor Aquoso/imunologia , Catarata/complicações , Catarata/imunologia , Citocinas/metabolismo , Hepatite B/complicações , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Mediadores da Inflamação/metabolismo , Masculino , Pessoa de Meia-Idade , Dor/epidemiologiaRESUMO
Purpose: To analyze the expression of 440 human cytokines in aqueous humor of high myopic patients with cataracts. Methods: Eighty-five patients with cataracts were recruited in this study. In the screening stage, the RayBio G-Series Human Cytokine Antibody Array 440 was used to assay the aqueous humor samples collected from nine high myopic patients with cataracts and eight non-myopic patients with cataracts right before the surgery. The array was further used for verification of the screened cytokines, with aqueous humor samples obtained from 34 eyes of high myopic patients with cataracts and 34 eyes of non-myopic patients with cataracts. Results: Compared with the non-myopic patients with cataracts, the expression levels of decorin, receptor activator of NF-kB (RANK), angiopoietin-1 (ANG-1), C-X-C motif ligand 16 (CXCL16), ß-inducible gene-h3 (bIG-H3), insulin-like growth factor-binding protein 2 (IGFBP-2), and interleukin-17B (IL-17B) were statistically significantly higher in high myopic patients with cataracts (all p<0.000114). The matrix metalloproteinase-2 (MMP-2) level also increased in the aqueous humor of high myopic patients with cataracts (p = 0.0034). The concentrations of ANG-1 and MMP-2 were also increased in the aqueous humor of the confirmatory stage (all p<0.05). Conclusions: In this study, numerous cytokines in aqueous humor were detected in high myopic patients with cataracts and non-myopic patients with cataracts, and it was confirmed that the MMP-2 level in the aqueous humor of patients with high myopia was statistically significantly increased. Further verification also revealed the elevation of ANG-1 in the aqueous humor of high myopic patients with cataracts, which suggests that ANG-1 may be related to the pathogenesis of high myopia.
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Humor Aquoso/metabolismo , Catarata/metabolismo , Citocinas/metabolismo , Miopia/metabolismo , Idoso , Angiopoietina-1/metabolismo , Humor Aquoso/enzimologia , Quimiocina CXCL16/metabolismo , Decorina/metabolismo , Proteínas da Matriz Extracelular/metabolismo , Feminino , Regulação da Expressão Gênica/genética , Humanos , Proteína 2 de Ligação a Fator de Crescimento Semelhante à Insulina/metabolismo , Interleucina-17/metabolismo , Masculino , Metaloproteinase 2 da Matriz/metabolismo , Pessoa de Meia-Idade , NF-kappa B/metabolismo , Fator de Crescimento Transformador beta/metabolismoRESUMO
Purpose: To identify disease-causing gene mutations in 21 northern Chinese families with congenital cataracts. Methods: Medical record collection and ophthalmologic examinations were conducted for 21 families with congenital cataracts. A volume of 5 ml of peripheral blood was drawn from each participant for genomic DNA isolation. Thirty-four known candidate genes for congenital cataracts were analyzed in the probands of 21 families with targeted next-generation sequencing (NGS). Bioinformatics analysis of the sequence variants was performed through computational predictive programs. Sanger sequencing was used to perform the cosegregation analysis. Genotyping and haplotype analyses were performed in two patients with a p.V44M mutation in the GJA8 gene. Results: Twelve disease-causing mutations were detected in 13 of the 21 patients, and the mutation detection rate was 61.9%. The 12 gene mutations included one nonsense, one splice site, seven missense, and three insert and deletion (INDELs) mutations. Four mutations were novel. Of the 13 patients with pathogenic gene mutations, five (38.5%) were affected by mutations in lens crystallin genes, three (23%) were affected by mutations in connexin genes, three (23%) were affected by mutations in transcription factor genes, one (7.7%) was affected by a mutation in a transmembrane transporter gene, and one (7.7%) was affected by a mutation in a chromatin-modifying protein gene. Two families carried the p.V44M mutation in the GJA8 gene. Haplotype analysis revealed a chromosome region of 475 kb containing the mutation in the GJA8 gene was harbored by two families. Conclusions: Compared with traditional Sanger sequencing, targeted NGS for genetic testing of congenital cataracts markedly increases the mutation detection rate and is cost-effective. The p.V44M mutation in the GJA8 gene was the most common mutation and was due to a founder effect within the Chinese cohort studied. The results of this study expand the gene mutation spectrum of congenital cataracts.
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Aquaporinas/genética , Catarata/genética , Conexinas/genética , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Proteínas do Olho/genética , Fatores de Transcrição Forkhead/genética , Fatores de Transcrição de Choque Térmico/genética , Mutação , Adolescente , Adulto , Povo Asiático , Catarata/congênito , Catarata/etnologia , Catarata/patologia , Criança , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Família , Feminino , Efeito Fundador , Expressão Gênica , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cristalino/metabolismo , Cristalino/patologia , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
PURPOSE: This study investigated the effect of cedilanid on retinal neovascularization in a mouse model of oxygen-induced retinopathy. METHODS: Seven-day-old C57BL/6 mice were exposed to 75% ± 1% oxygen for 5 days and were then returned to room air to induce retinal neovascularization. Cedilanid (0.025-0.2 µg) was intravitreally injected into the left eye of each mouse on postnatal day 12 (P12) and P15. PBS was intravitreally injected into the right eye as a control. Retinal neovascularization was evaluated with isolectin GS-IB4 staining of the retinal blood vessels. The function of reestablishment blood vessels was evaluated with angiography with the injection of fluorescein isothiocyanate (FITC)-dextran followed by isolectin GS-IB4 staining. Real time (RT)-PCR and western blot were used to examine the mRNA and protein expression of hypoxia inducible factor 1 alpha (HIF-1α) and vascular endothelial growth factor (VEGF), respectively. RESULTS: Retinal neovascular areas and obliterative areas were statistically significantly smaller in the eyes injected with cedilanid (0.05 µg, 0.1 µg, and 0.2 µg) compared with the control eyes. The inhibitory effect of cedilanid was observed in a dose-dependent manner. In addition, the retinal neovascular areas and the obliterative areas in the eyes injected with 0.2 µg cedilanid on P12 were statistically significantly smaller than those in the eyes injected with the same dose of cedilanid on P15. Cedilanid promoted the circulative function of reestablished blood vessels in the obliterative areas. Cedilanid inhibited the expression of HIF-1α and VEGF in mice treated with hyperoxia. CONCLUSIONS: Cedilanid inhibits retinal neovascularization in a mouse model of oxygen-induced retinopathy. Early treatment with cedilanid produces better inhibition of retinal neovascularization. Cedilanid may be a potential treatment of neovascular diseases.
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Lanatosídeos/uso terapêutico , Neovascularização Retiniana/tratamento farmacológico , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Relação Dose-Resposta a Droga , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Camundongos Endogâmicos C57BL , Oxigênio , Retina/efeitos dos fármacos , Retina/metabolismo , Retina/patologia , Neovascularização Retiniana/metabolismo , Neovascularização Retiniana/patologia , Fatores de Tempo , Fator A de Crescimento do Endotélio Vascular/metabolismoRESUMO
BACKGROUND: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted. All patients wore color contact lenses postoperatively. Paired t test was used to compare visual acuity, intraocular pressure, and corneal endothelial changes before and after surgery. RESULTS: A single surgeon performed all surgeries. The best-corrected visual acuity improved from value 1.03 ± 0.27LogMAR preoperatively to value 0.78 ± 0.26LogMAR postoperatively (p = 0.000). The photophobic symptoms improved significantly after surgery. The mean corneal endothelial cell density before and after surgery was 3280 ± 473 cells/mm2 and 2669 ± 850 cells/mm2, respectively (p = 0.006). None of the patients developed corneal endothelial decompensation or secondary glaucoma after surgery. CONCLUSIONS: Treatment of congenital aniridia and coexistent cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients. TRIAL REGISTRATION: ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017).
Assuntos
Aniridia/diagnóstico , Catarata/complicações , Lentes Intraoculares , Facoemulsificação/métodos , Acuidade Visual , Adolescente , Adulto , Aniridia/complicações , Aniridia/cirurgia , Catarata/diagnóstico , Catarata/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Tomografia de Coerência Óptica , Adulto JovemRESUMO
OBJECTIVE: To investigate whether intravitreally applied haemangioblasts (HB) derived from human embryonic stem cells (hESCs) are helpful for the repair of vascular damage caused in animals by an oxygen-induced retinopathy (OIR), by an induced diabetic retinopathy (DR) or by an induced retinal ischaemia with subsequent reperfusion. METHODS: Human embryonic stem cell-derived HBs were transplanted intravitreally into C57BL/6J mice (OIR model), into male Wistar rats with an induced DR and into male Wistar rats undergoing induced retinal ischaemia with subsequent reperfusion. Control groups of animals received an intravitreal injection of endothelial cells (ECs) or phosphate-buffered saline (PBS). We examined the vasculature integrity in the mice with OIR, the blood-retina barrier in the rats with induced DR, and retinal thickness and retinal ganglion cell density in retina flat mounts of the rats with the retinal ischaemic-reperfusion retinopathy. RESULTS: In the OIR model, the study group versus control groups showed a significantly (p < 0.001) smaller retinal avascular area [5.1 ± 2.7%;n = 18 animals versus 12.2 ± 2.8% (PBS group; n = 10 animals) and versus 11.8 ± 3.7% (EC group; n = 8 animals)] and less retinal neovascularization [6.3 ± 2.5%;n = 18 versus 15.2 ± 6.3% (n = 10; PBS group) and versus 15.8 ± 3.3% (n = 8; EC group)]. On retinal flat mounts, hESC-HBs were integrated into damaged retinal vessels and stained positive for PECAM (CD31) as EC marker. In the DR model, the study group versus the EC control group showed a significantly (p = 0.001) better blood-retina barrier function as measured at 2 days after the intravitreal injections [study group: 20.2 ± 12.8 µl/(g × hr); n = 6; versus EC control group: 52.9 ± 9.9 µl/(g × hr; n = 6)]. In the retinal ischaemia-reperfusion model, the groups did not differ significantly in retinal thickness and retinal ganglion cell density at 2, 5 and 7 days after baseline. CONCLUSION: By integrating into damaged retinal vessels and differentiating into ECs, intravitreally administered hESC-HBs may have partially repaired a retinal vascular injury caused by OIR model and DR.
Assuntos
Células-Tronco Embrionárias/transplante , Hemangioblastos/transplante , Doenças Retinianas/cirurgia , Transplante de Células-Tronco/métodos , Animais , Células Cultivadas , Modelos Animais de Doenças , Humanos , Injeções Intravítreas , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Oxigênio/toxicidade , Ratos , Ratos Wistar , Traumatismo por Reperfusão/complicações , Doenças Retinianas/etiologia , Doenças Retinianas/patologia , Vasos Retinianos/patologiaRESUMO
PURPOSE: To examine the potential of intravitreally implanted human bone marrow-derived mesenchymal stem cells (BMSCs) to affect vascular repair and the blood-retina barrier in mice and rats with oxygen-induced retinopathy, diabetic retinopathy or retinal ischaemia-reperfusion damage. METHODS: Three study groups (oxygen-induced retinopathy group: 18 C57BL/6J mice; diabetic retinopathy group: 15 rats; retinal ischaemia-reperfusion model: 18 rats) received BMSCs injected intravitreally. Control groups (oxygen-induced retinopathy group: 12 C57BL/6J mice; diabetic retinopathy group: 15 rats; retinal ischaemia-reperfusion model: 18 rats) received an intravitreal injection of phosphate-buffered saline. We applied immunohistological techniques to measure retinal vascularization, spectroscopic measurements of intraretinally extravasated fluorescein-conjugated dextran to quantify the blood-retina barrier breakdown, and histomorphometry to assess retinal thickness and retinal ganglion cell count. RESULTS: In the oxygen-induced retinopathy model, the study group with intravitreally injected BMSCs as compared with the control group showed a significantly (p = 0.001) smaller area of retinal neovascularization. In the diabetic retinopathy model, study group and control group did not differ significantly in the amount of intraretinally extravasated dextran. In the retinal ischaemia-reperfusion model, on the 7th day after retina injury, the retina was significantly thicker in the study group than in the control group (p = 0.02), with no significant difference in the retinal ganglion cell count (p = 0.36). CONCLUSIONS: Intravitreally implanted human BMSCs were associated with a reduced retinal neovascularization in the oxygen-induced retinopathy model and with a potentially cell preserving effect in the retinal ischaemia-reperfusion model. Intravitreal BMSCs may be of potential interest for the therapy of retinal vascular disorders.
Assuntos
Transplante de Medula Óssea/métodos , Transplante de Células-Tronco Mesenquimais/métodos , Doenças Retinianas/cirurgia , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Procedimentos Cirúrgicos Oftalmológicos , Ratos , Ratos Wistar , Traumatismo por Reperfusão/complicações , Traumatismo por Reperfusão/diagnóstico , Traumatismo por Reperfusão/cirurgia , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologiaRESUMO
OBJECTIVE: To evaluate visual outcomes and complications after phacoemulsification in eyes with cataract and previous radial keratotomy (RK) cuts using different sizes of clear corneal incisions. METHODS: The study was a retrospective study. Thirty eyes with cataract and previous RK underwent phacoemulsification and intraocular lens (IOL) implantation. Among them 7 eyes had 8 RK cuts, 13 eyes had 12 RK cuts, and 10 eyes had 16 RK cuts. Phacoemulsification and IOL implantation were performed through a 2.0-3.2 mm clear corneal incision by a single surgeon. In the 8 RK cuts group, 3.2 mm clear corneal incisions were used in 4 eyes, and 3.0 mm clear corneal incisions were used in 3 eyes. In the 12 RK cuts group, 3.2 mm clear corneal incisions were used in 6 eyes, and 2.2 mm clear corneal incisions were used in 7 eyes. In the 16 RK cuts group, 3.2 mm clear corneal incisions were used in 5 eyes, and 2.0 mm clear corneal incisions were used in 5 eyes. Patients were followed up 1 day, 1 week, 1 month, 3 months, 6 months, 1 year, 2 years, and 3 years postoperatively and were examined for the dehiscence of RK cuts during or after the surgery, post-operative best-corrected visual acuity (BCVA), corneal astigmatism, corneal endothelial cell density and complications. RESULTS: Successful phacoemulsification with IOL implantation was performed in all eyes. No wound dehiscence was noted in any eyes with 8 or 12 RK cuts. Wound dehiscence was noted in 2 eyes with 16 RK cuts. The dehiscence of RK cuts was closed successfully by injecting an air bubble with or without viscoelastic agent into the anterior chamber at the end of surgery. During the follow-up, the cuts were well apposed in all eyes, and no new dehiscence of RK cuts was noted. At the last follow-up, mean BCVA (0.2 ± 0.18 logMAR) was better than preoperative BCVA(0.45±0.19 logMAR) (P < 0.001). There was no significant difference between the long-term preoperative and postoperative mean corneal astigmatism (P = 0.3). However, there was a significant reduction in postoperative corneal endothelial cell density (1866.5±773.9 / mm2 vs 2421.7±655.7 / mm2) (P < 0.001). CONCLUSIONS: Phacoemulsification and IOL implantation with clear corneal incisions in eyes with previous RK were associated with good surgical outcomes. Wound dehiscence was not specificaly related to the size of clear corneal incision during phacoemulsification in these eyes.