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1.
Int J Ophthalmol ; 17(3): 551-557, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38721499

RESUMO

AIM: To introduce the macular hole (MH) hydromassage technique as a potentially beneficial approach for the treatment of large or persistent MH. METHODS: This retrospective observational case series comprised 16 consecutive patients (17 eyes) diagnosed with MH. Inclusion criteria involved a hole aperture diameter larger than 600 µm or the presence of an unclosed MH larger than 600 µm following the previous vitrectomy. Standard MH repair procedures were administered in all cases, involving the manipulation and aspiration of the hole margin through the application of water flow with a soft-tip flute needle. A comprehensive assessment was conducted for each case before and after surgery, and optical coherence tomography (OCT) images were captured at every follow-up point. RESULTS: The mean preoperative aperture diameter was 747±156 µm (range 611-1180 µm), with a mean base diameter of 1390±435 µm (range 578-2220 µm). Following surgery, all cases achieved complete anatomical closure of MH, with 13 cases (76.5%) exhibiting type 1 closure and 4 cases (23.5%) demonstrating type 2 closure. No significant differences were observed in the preoperative OCT variables between the two closure types. Eyes with type 1 closure showed a significantly improved visual acuity (0.70±0.10, range 0.50-0.80) compared to those with type 2 closure (0.90±0.12, range 0.80-1.00, P=0.014). CONCLUSION: The MH hydromassage technique demonstrates promising results, achieving acceptable closure rates in cases of large or persistent MH. This technique may serve as an effective adjunctive maneuver during challenging MH surgery.

2.
World J Clin Cases ; 12(1): 163-168, 2024 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-38292635

RESUMO

BACKGROUND: Endophthalmitis occurring in silicone oil-filled eyes is a very rare occurrence, with reported incidence rates ranging between 0.07% and 0.039%. Traditional methods of management of infectious endophthalmitis include the removal of silicone oil, washout of the vitreous cavity, administration of intravitreal antibiotics, and re-injection of silicone oil. CASE SUMMARY: Herein, we report the case of a 39-year-old man with unilateral endophthalmitis after pars plana vitrectomy and silicone oil tamponade. Intravitreal injections of full-dose antibiotics and anterior chamber washout were used to treat the patient. No signs of retinal toxicity were observed during the follow-up period. CONCLUSION: Intravitreal full-dose antibiotic injections and anterior chamber washout are promising alternatives to traditional therapies for endophthalmitis in silicone oil-filled eyes.

4.
Graefes Arch Clin Exp Ophthalmol ; 262(5): 1409-1419, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-37815595

RESUMO

PURPOSE: To compare the efficacy of different anti-vascular endothelial growth factor (VEGF) agents for the treatment of retinopathy of prematurity (ROP) in preterm infants. METHODS: Seven databases were searched for eligible literature up to February 22, 2023. Studies were included if they were randomised controlled trials (RCTs) investigating the efficacy of anti-VEGF agents for ROP in infants. A network meta-analysis (NMA) was performed. We also conducted subgroup analyses to determine the efficacy ranking of regimens used in different regions. The odds ratio (OR), standardised mean difference (SMD), and surface under the cumulative ranking curve (SUCRA) were calculated for each outcome. RESULTS: Thirteen RCTs of 10 different regimens, involving 1196 infants (2388 eyes), were identified. Bevacizumab (0.625 mg; OR = 0.16, 95% confidence interval [CI] 0.06-0.40, SUCRA = 80.6%) and conbercept (0.15 mg; OR = 0.08, 95% CI 0.02-0.30, SUCRA = 96.0%) were the most effective regimens in reducing the risk of ROP recurrence requiring retreatment in Western countries and China, respectively. Compared with laser therapy, bevacizumab (0.625 mg; SMD = 1.54, 95% CI 0.06-3.02) achieved significantly longer intervals between treatment and recurrence. No significant difference in the risk of retinal detachment was detected between any anti-VEGF agent and laser (p > 0.05). CONCLUSIONS: Bevacizumab (0.625 mg) and conbercept (0.15 mg) appeared to be the most effective therapies for ROP in Western countries and China, respectively. More high-quality RCTs are warranted to evaluate the efficacy and long-term safety of anti-VEGF drugs for the management of ROP.

5.
BMC Ophthalmol ; 23(1): 331, 2023 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-37474921

RESUMO

BACKGROUND: To evaluate the effect of room air and sulfur hexafluoride (SF6) gas in idiopathic macular hole(MH)surgery. METHODS: Retrospective, interventional, and comparative study. 238 eyes with the idiopathic macular hole that underwent pars plana vitrectomy, internal limiting membrane peeling, fluid-air exchange, and 20% SF6 (SF6 group:125 eyes) or room air tamponade (air group: 113 eyes) were reviewed. The primary outcome measure was the closure rate of primary surgery. RESULTS: The baseline characteristics of the SF6 group and air group were comparable except for the hole size (479.90 ± 204.48 vs. 429.38 ± 174.63 µm, P = 0.043). The anatomical closure rate was 92.8% (116 / 125) with the SF6 group and 76.1% (86 / 113) with the air group (P < 0.001). A cut-off value of MH size to predict primary anatomical closure was 520 µm, which is based on the lower limit of 95% confidential interval of the MH size among the unclosed patients in the air group. There was no significant difference in anatomical closure rates between SF6 and air group (98.7% vs. 91.9%, P = 0.051) for MH ≤ 520 µm, whereas a significantly lower anatomical closure rate was shown in the air group than SF6 group (46.2% vs. 84.0%, P < 0.001) for MH > 520 µm. CONCLUSION: SF6 exhibited more effectiveness than air to achieve a good anatomical outcome for its longer tamponade when MH > 520 µm.


Assuntos
Perfurações Retinianas , Humanos , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Hexafluoreto de Enxofre , Vitrectomia , Acuidade Visual
6.
J Evid Based Med ; 15(3): 302-314, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36151612

RESUMO

Severe mechanical ocular trauma with no light perception (NLP) predicts a poor prognosis of visual acuity and enucleation of the eyeball. Since the innovative treatment concept of exploratory vitreoretinal surgery has developed and treatment technology has advanced, the outcomes of severe ocular trauma treatment in NLP patients have greatly improved. However, there remains a lack of unified standards for the determination, surgical indication, and timing of vitrectomy in NLP eye treatment. To address these problems, we aimed to create evidence-based medical guidelines for the diagnosis, treatment, and prognosis of mechanical ocular trauma with NLP. Sixteen relevant recommendations for mechanical ocular trauma with NLP were obtained, and a consensus was reached. Each recommendation was explained in detail to guide the treatment of mechanical ocular trauma associated with NLP.


Assuntos
Ferimentos Oculares Penetrantes , Ferimentos Oculares Penetrantes/diagnóstico , Ferimentos Oculares Penetrantes/cirurgia , Humanos , Prognóstico , Estudos Retrospectivos , Acuidade Visual , Vitrectomia
7.
Front Med (Lausanne) ; 9: 969861, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35991664

RESUMO

Aims: To describe the long-term effect of scleral buckling (SB) surgery for stage 4A retinopathy of prematurity (ROP). Methods: A retrospective chart review was conducted for patients with a diagnosis of stage 4A ROP who underwent SB between October 2010 and October 2021. Basic data were collected from patient charts, including gender, birth weight, gestational age at birth, disease stage, presence of plus disease, preoperative treatment [laser photocoagulation, intravitreal anti-vascular endothelial growth factor (VEGF) agent therapy, or a combination of both] and complications (vitreous hemorrhages), postmenstrual age at surgery, intraoperative combined treatment, and total length of follow-up. Retinal attachment status after surgery, postoperative complications (glaucoma, cataract), date and type of subsequent retinal surgeries (if performed), and refractive status 1 year after surgery were evaluated. The follow-up time after the first procedure was over 1 year. Results: Six-two eyes from forty-eight patients met the inclusion criteria for this study. The initial reattachment rate was 93.5% (58/62 eyes), and the final reattachment rate was 100% after two procedures at the end of follow-up. The incidence of cataracts was 3.2% (2/62), with no eye subsequently needing lensectomy surgery. None of the patients developed glaucoma during the follow-up time. The average spherical equivalent refraction value for patients was -3.00 ± 2.51 D (-7.60 D to +2.75 D) 1 year after surgery. Conclusion: SB, especially segmental buckling, which induces less myopia and does not require buckle removal, has the potential to provide a significant positive impact in the treatment of stage 4A ROP.

8.
Front Endocrinol (Lausanne) ; 13: 916789, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35837299

RESUMO

Purpose: Anti-vascular endothelial growth factor (anti-VEGF) treatment are now widely used in patients with circumscribed choroidal hemangioma (CCH), however the concentrations of VEGF and other cytokines in CCH patients have not been known before. The study was conducted to compare various cytokine concentrations in the aqueous humor of eyes with CCH and control. Methods: A total of 16 eyes of 16 patients with CCH, and 15 eyes of 15 patients with cataract as the control group were examined. Aqueous humor samples were assessed for 30 angiogenic and inflammatory cytokines by Luminex bead-based multiplex array. Results: Significantly, compared with control group, higher concentrations of VEGF-A and IP-10 were found in the CCH patients (P = 0.002 and P < 0.001). Conclusions: VEGF-A and IP-10 might be involved with the angiogenic and antiangiogenic process in CCH patients, which provides new insight into the pathophysiology of CCH and could be potential targets for treatment.


Assuntos
Humor Aquoso , Hemangioma , Humor Aquoso/metabolismo , Quimiocina CXCL10/metabolismo , Citocinas/metabolismo , Hemangioma/metabolismo , Humanos , Fator A de Crescimento do Endotélio Vascular/metabolismo
9.
Front Mol Biosci ; 9: 871291, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35755823

RESUMO

Purpose: To reveal molecular mechanisms of diabetic retinopathy (DR) in Asians and facilitate the identification of new therapeutic targets through untargeted metabolomics. To determine the differences in serum metabolites and metabolic pathways between different stages of diabetic retinopathy in patients with type 2 diabetic mellitus (T2DM) and proliferative DR (PDR) and non-proliferative DR (NPDR) and identify differential metabolites between T2DM and DR (NPDR and PDR) patients. Methods: This prospective observational registration study described the differential metabolites between 45 T2DM patients and 15 control cases with no significant differences in clinical characteristics. Their biospecimens and clinical information were collected and recorded in their medical reports. DR phenotypes of the subjects were verified by retina specialists. Serum metabolites were analyzed using high-resolution mass spectrometry with liquid chromatography. Untargeted metabolomics was performed on serum samples from 15 T2DM patients, 15 non-proliferative diabetic retinopathy patients, 15 proliferative diabetic retinopathy patients, and 15 diabetic controls. Discriminatory metabolic features were identified through partial least squares discriminant analysis (PLS-DA), hierarchical clustering analysis (HCA), and generalized linear regression models. Result: Through untargeted metabolomics, 931 features (523 in positive and 408 in negative modes) with 102 common metabolites highly relevant to the presence of DR were detected. In the adjusted analysis, 67 metabolic features differed significantly between T2DM and NPDR patients. Pathway analysis revealed alterations in metabolisms of amino acids and fatty acids. Glutamate, phosphatidylcholine, and 13-hydroperoxyoctadeca-9,11-dienoic acid (13-PHODE) were key contributors to these pathway differences. A total of 171 features distinguished PDR patients from T2DM patients, and pathway analysis revealed alterations in amino acid metabolism, fatty acid metabolism, nitrogen metabolism, and tricarboxylic acid cycle. Aspartate, glutamate, glutamine, ornithine, N-acetyl-l-glutamate, N-acetyl-l-aspartate, citrate, succinate, N-(L-arginino)succinate, 2-oxoglutarate, 13-hydroperoxyoctadeca-9,11-dienoic acid, methionine, lysine, threonine, phenylalanine, N(pi)-methyl-l-histidine, phosphatidylcholine, and linoleate were major contributors to the pathway differences. Between NPDR patients and PDR patients, there were 79 significant differential metabolites. Enrichment pathway analysis showed changes in amino acid metabolism, fatty acid metabolism, pantothenate, and CoA biosynthesis. Aspartate, glutamine, N-acetyl-l-glutamate, N-acetyl-l-aspartate, pantothenate, dihomo-gamma-linolenate, docosahexaenoic acid, and icosapentaenoic acid were key factors for the differences of these pathways. Conclusion: This study demonstrated that the pathways of arginine biosynthesis metabolism, linoleic acid metabolism, alanine, aspartate, and glutamate metabolism, as well as d-glutamine and d-glutamate metabolism, were dysregulated in DR patients of the Asian population. Increased levels of glutamate, aspartate, glutamine, N-acetyl-l-glutamate, and N-acetyl-l-aspartate and decreased levels of dihomo-gamma-linolenate, docosahexaenoic, and icosapentaenoic were considered as the metabolic profile that could distinguish PDR from NPDR in Asians. Phosphatidylcholine and 13-PHODE were identified as two major novel metabolite markers in advanced stages of DR in our study.

10.
Front Med (Lausanne) ; 9: 911095, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35712119

RESUMO

Purpose: To compare the efficacies and treatment outcomes of intravitreal anti-VEGF agents and laser therapy in retinopathy of prematurity (ROP). Methods: A retrospective, non-randomized, comparative study of patients diagnosed with type 1 ROP or aggressive posterior ROP (A-ROP) treated with intravitreal anti-VEGF agents or laser therapy as primary treatment at the People's Hospital of Peking University. Results: A total of 1,627 eyes of 862 patients were included. In Group 1, 399 eyes of 204 patients were diagnosed with A-ROP or zone I type 1 ROP. The initial regression of the anti-VEGF subgroup was better than that of the laser subgroup, and the reactivation rate and rate of progression to retinal detachment were lower than those of the laser subgroup. In Group 2, 1,228 eyes of 658 patients were diagnosed with zone II type 1 ROP. The reactivation rate of the laser subgroup was lower than that of the anti-VEGF subgroup. No significant differences were found in the initial regression and the probability of developing retinal detachment. Among the anti-VEGF agents, the reactivation rate in eyes treated with conbercept was much lower than that in eyes treated with ranibizumab. The spherical power and spherical equivalents of eyes treated with laser were significantly higher than those of eyes treated with anti-VEGF agents 1 year after initial treatment. Conclusions: In contrast to laser therapy, anti-VEGF agents as primary treatments have potential advantages for eyes with zone I type 1 ROP and A-ROP. For eyes with zone II type 1 ROP, laser photocoagulation and anti-VEGF agents therapy showed similar efficacy; however, the rate of reactivation with laser therapy was significantly lower than that with anti-VEGF agents. Among the anti-VEGF agents, the reactivation rate was much lower in eyes treated with conbercept than in eyes treated with ranibizumab. Compared to anti-VEGF agents, laser treated eyes had greater trend to myopia.

11.
Int J Ophthalmol ; 15(1): 106-112, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35047364

RESUMO

AIM: To evaluate foveal vessel density (VD) and foveal thickness using optical coherence tomography angiography (OCTA) in retinopathy of prematurity (ROP) children treated with laser photocoagulation or anti-vascular endothelial growth factor (VEGF) injection. Additionally, we assessed the relationship between foveal microvascular anomalies and different therapies in ROP children. METHODS: This was a single-center, retrospective study of patients with a diagnosis of type 1 ROP. Twenty-three eyes (14 patients) treated with anti-VEGF injection and twenty-nine eyes (17 patients) treated with laser coagulation were included in this study. The foveal VD, inner thickness and full thickness were measured at the central 0°, 2° to 8°, and 8° of the retina (centered on the fovea) using OCTA and cross-sectional OCT, respectively. RESULTS: Foveal VD, inner thickness and full thickness were significantly smaller within the central 8° of the retina in ROP children treated with anti-VEGF injection than in those treated with laser photocoagulation (P=0.013, 0.009, 0.036, respectively). The full thickness was also smaller in the anti-VEGF group than in the laser group at the central 0° of the retina (P=0.010). The grade of foveal hypoplasia is lower in the anti-VEGF group than in the laser group (P=0.045). Multivariable analysis did not find any risk factors associated with visual acuity in our study. CONCLUSION: In children with type 1 ROP, the better structural development of fovea in those who were treated with anti-VEGF injection compared with laser photocoagulation are identified. However, visual acuity outcomes are similar 70mo after the treatments.

12.
Am J Ophthalmol ; 236: 193-203, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34626572

RESUMO

PURPOSE: To report three-decade changes of clinical characteristics, progress of treatments, and risk factors associated with mortality and enucleation in patients with retinoblastoma in China. DESIGN: Retrospective cohort study. METHODS: This multicenter study included 2552 patients diagnosed with retinoblastoma in 38 medical centers in 31 provinces in China from 1989 to 2017, with follow-up data. Kendall's tau-b value was used to describe correlation coefficients between the three eras (between 1989 and 2008, between 2009 and 2013, and between 2014 and 2017) and clinical or demographic features. Hazard ratios and odds ratios were applied to measure risk factors. RESULTS: A total of 324 (13%) patients died and 1414 (42%) eyes were removed. The 1-year, 3-year, and 5-year overall survival rates were 95%, 86%, and 83%, respectively. Patients were diagnosed at a better stage by International Classification for Retinoblastoma over time (Kendall's tau-b value = -0.084, P < .001). Pathological risk factors were also observed less in recent eras. New conservative therapies were adopted and used in more patients. The eye removal rate gradually decreased (Kendall's tau-b value = -0.167, P < .001). The overall survival rates were 81%, 83%, and 91% in the three eras. By multivariate Cox regression, bilateral tumors and extraocular extension were identified as risk factors for death. Among intraocular disease, Group E indicated higher risk of mortality. By multivariate logistics regression, unilateral tumors, earlier era of diagnosis, and extraocular extension were risk factors for eye salvage failure. Among intraocular retinoblastoma, Groups D and E had higher risk of eye salvage failure. CONCLUSIONS: Patients were diagnosed at an earlier stage in recent eras. Conservative therapies, including intra-arterial chemotherapy, were increasingly being used. The above changes may contribute to the decreasing enucleation rate. Although no significant impact was identified on the mortality by the three eras, a decreasing trend was shown.


Assuntos
Neoplasias da Retina , Retinoblastoma , Enucleação Ocular , Humanos , Lactente , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/epidemiologia , Neoplasias da Retina/terapia , Retinoblastoma/diagnóstico , Retinoblastoma/epidemiologia , Retinoblastoma/terapia , Estudos Retrospectivos , Terapia de Salvação
13.
Ophthalmology ; 129(2): 209-219, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34536465

RESUMO

PURPOSE: This study attempted to estimate the impact of eye-preserving therapies for the long-term prognosis of patients with advanced retinoblastoma with regard to overall survival and ocular salvage. DESIGN: Retrospective cohort study covering all 31 provinces (38 retinoblastoma treating centers) of mainland China. PARTICIPANTS: One thousand six hundred seventy-eight patients diagnosed with group D or E retinoblastoma from January 2006 through May 2016. METHODS: Chart review was performed. The patients were divided into primary enucleation and eye-preserving groups, and they were followed up for survival status. The impact of initial treatment on survival was evaluated by Cox analyses. MAIN OUTCOME MEASURES: Overall survival and final eye preservation. RESULTS: After a median follow-up of 43.9 months, 196 patients (12%) died, and the 5-year overall survival was 86%. In total, the eyeball preservation rate was 48%. In this cohort, 1172 patients (70%) had unilateral retinoblastoma, whereas 506 patients (30%) had bilateral disease. For patients with unilateral disease, 570 eyes (49%) underwent primary enucleation, and 602 patients (51%) received eye-preserving therapies initially. During the follow-up (median, 45.6 months), 59 patients (10%) from the primary enucleation group and 56 patients (9.3%) from the eye-preserving group died. Multivariate Cox analyses indicated no significant difference in overall survival between the 2 groups (hazard ratio [HR], 1.25; 95% confidence interval [CI], 0.85-1.84; P = 0.250). For patients with bilateral disease, 95 eyes (19%) underwent primary enucleation, and 411 patients (81%) received eye-preserving therapies initially. During the follow-up (median, 40.1 months), 12 patients (13%) from the primary enucleation group and 69 patients (17%) from the eye-preserving group died. For bilateral retinoblastoma with the worse eye classified as group E, patients undergoing primary enucleation exhibited better overall survival (HR, 2.35; 95% CI, 1.10-5.01; P = 0.027); however, this survival advantage was not evident until passing 22.6 months after initial diagnosis. CONCLUSIONS: Eye-preserving therapies have been used widely for advanced retinoblastoma in China. Patients with bilateral disease whose worse eye was classified as group E and who initially underwent eye-preserving therapies exhibited a worse overall survival. The choice of primary treatment for advanced retinoblastoma should be weighed carefully.


Assuntos
Neoplasias da Retina/terapia , Retinoblastoma/terapia , Terapia de Salvação , Antineoplásicos/uso terapêutico , Braquiterapia , Pré-Escolar , China , Terapia Combinada , Crioterapia , Enucleação Ocular , Feminino , Seguimentos , Humanos , Lactente , Fotocoagulação a Laser , Masculino , Neoplasias da Retina/mortalidade , Neoplasias da Retina/patologia , Retinoblastoma/mortalidade , Retinoblastoma/patologia , Estudos Retrospectivos , Taxa de Sobrevida
14.
Br J Ophthalmol ; 106(9): 1295-1300, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-33836990

RESUMO

BACKGROUND: Data on serum vascular endothelial growth factor (VEGF) and drug levels in patients with retinopathy of prematurity (ROP) following intravitreal injections of conbercept (IVC) are lacking. METHODS: Multicentre, prospective, non-randomised study of patients with aggressive posterior retinopathy of prematurity (APROP) or type 1 ROP who had not received other treatment. All infants received therapy in both eyes plus intravitreal IVC 0.25 mg/0.025 mL in one eye and had at least 6 months of follow-up. Blood samples were collected before and 1 week and 4 weeks after IVC. The main outcome measures were serum conbercept and VEGF concentrations. RESULTS: Forty infants with APROP or type 1 ROP were enrolled. The mean serum VEGF at baseline and 1 week and 4 weeks after a total of 0.25 mg of IVC was 953.35±311.90 pg/mL, 303.46±181.89 pg/mL and 883.12±303.89 pg/mL, respectively. Serum VEGF 1 week after IVC was significantly lower (p<0.05) than baseline, and at 4 weeks after IVC, it was significantly higher (p<0.05) than at 1 week. There was no significant difference (p>0.05) between baseline and 4 weeks. Serum conbercept was below the limit of quantitation (BLOQ) at baseline and 4 weeks and was 19.81±7.60 ng/mL at 1 week. CONCLUSION: Serum VEGF 1 week after IVC was significantly lower than baseline but returned to baseline at 4 weeks. Serum conbercept increased at 1 week and was BLOQ at 4 weeks.


Assuntos
Retinopatia da Prematuridade , Inibidores da Angiogênese/uso terapêutico , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Injeções Intravítreas , Estudos Prospectivos , Proteínas Recombinantes de Fusão , Retinopatia da Prematuridade/tratamento farmacológico , Fator A de Crescimento do Endotélio Vascular , Fatores de Crescimento do Endotélio Vascular
15.
Invest Ophthalmol Vis Sci ; 62(15): 4, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34860240

RESUMO

Purpose: To investigate the clinical findings in Chinese patients diagnosed with familial exudative vitreoretinopathy (FEVR) and carrying pathogenic mutations. Methods: One hundred twenty unrelated patients with FEVR were enrolled in this study. Genomic DNA and ophthalmic examinations were collected from all the patients and their available relatives. Targeted next-generation sequencing was performed to detect mutations. In silico programs were used to evaluate the pathogenicity of all the mutations. Results: Eighty identified mutations were found in 81 unrelated patients (31/81 in LRP5, 25/81 in FZD4, 12/81 in TSPAN12, 8/81 in NDP, 4/81 in KIF11, and 1/81 in ZNF408). Among those mutations, 53 were novel (23/35 in LRP5, 15/21 in FZD4, 8/11 in TSPAN12, 3/8 in NDP, 3/4 in KIF11, 1/1 in ZNF408). Patients with LRP5, FZD4, TSPAN12, or NDP mutations were mainly classified into stage 4 and stage 5 and one-half of patients with KIF11 mutations were in stage 4. In addition, all the patients in NDP group were found to have bilateral symmetry in FEVR stage. Conclusions: Our results present profound phenotypic variability and a wide mutation spectrum of FEVR in the Chinese population, which could be useful for a precise and comprehensive genetic diagnosis for patients with FEVR in the future.


Assuntos
Povo Asiático/genética , Proteínas do Olho/genética , Vitreorretinopatias Exsudativas Familiares/diagnóstico , Vitreorretinopatias Exsudativas Familiares/genética , Mutação/genética , Adolescente , Adulto , Povo Asiático/etnologia , Criança , Pré-Escolar , China/epidemiologia , Análise Mutacional de DNA , Proteínas de Ligação a DNA/genética , Feminino , Receptores Frizzled/genética , Estudos de Associação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cinesinas/genética , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Masculino , Proteínas do Tecido Nervoso/genética , Fenótipo , Tetraspaninas/genética , Fatores de Transcrição/genética
16.
J Neuroophthalmol ; 41(2): e215-e216, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-33110006

RESUMO

ABSTRACT: We herein describe a pediatric case of bilateral morning glory anomaly whose retrobulbar cysts and renal disease were underdiagnosed, and finally, he was diagnosed with renal coloboma syndrome. We recommend patients with colobomatous optic nerve malformations undergo a complete workup to avoid missed diagnosis, which includes (i) general physical examination looking for heart defects, genitourinary, auricular, and midline facial defects among other abnormalities; (ii) simple nephrologic investigations such as routine urine test and/or renal ultrasound to check for renal hypoplasia; and (iii) neuroimaging check for cerebrovascular anomalies and midline cranial defects. Genetic testing can be a useful tool to guide the workup.


Assuntos
Coloboma/diagnóstico , Cistos/diagnóstico , Doenças do Nervo Óptico/diagnóstico , Nervo Óptico/diagnóstico por imagem , Insuficiência Renal/diagnóstico , Refluxo Vesicoureteral/diagnóstico , Acuidade Visual , Criança , Diagnóstico Diferencial , Humanos , Masculino , Ultrassonografia
17.
Eye (Lond) ; 35(2): 625-631, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32376975

RESUMO

PURPOSE: To investigate the risk factors associated with retinal detachment recurrence after first vitrectomy in high myopic eyes with macular hole retinal detachment (MHRD). METHODS: Patients with high myopic eyes with MHRD who underwent pars plana vitrectomy and silicone oil (SO) tamponade with a follow-up period more than 12 months and more than 3 months after SO removal were included in this retrospective study. Logistic regression was performed to determine the risk factors associated with retinal re-detachment. RESULTS: A total of 45 eyes from 43 patients were included in this study (11 male and 34 female patients). The retinal re-detachment rate after the first removal of silicon oil was 35.5% (16/45) in a mean postoperative follow-up time of 35.64 ± 32.94 months. Complete macular atrophy on fundus photography (odds ratio (OR) = 17.021, 95% confidence interval (95% CI): 2.218-130.609, p = 0.006) was a risk factor for MHRD after SO removal, while internal limiting membrane (ILM) peeling (OR = 0.091, 95% CI: 0.013-0.633, p = 0.015) and duration of SO tamponade (OR = 0.667, 95% CI: 0.454-0.980, p = 0.039) were protective factors. CONCLUSION: For high myopic eyes with MHRD, complete macular atrophy was a significant risk factor for retinal re-detachment after silicon oil removal. ILM peeling and the duration of silicon oil tamponade were protective factors.


Assuntos
Descolamento Retiniano , Perfurações Retinianas , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Descolamento Retiniano/etiologia , Descolamento Retiniano/cirurgia , Perfurações Retinianas/etiologia , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Óleos de Silicone , Acuidade Visual , Vitrectomia
18.
Sci Rep ; 10(1): 12695, 2020 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-32728160

RESUMO

Intravitreal anti-vascular endothelial growth factor (VEGF) agents have revolutionized the treatment of retinopathy of prematurity (ROP); however, there are concerns regarding the potential systemic complications caused by those treatments. This study aimed to determine the serum concentrations of cytokines in infants with ROP and to evaluate the changes in serum VEGF concentrations after intravitreal conbercept (IVC). Sixty infants with ROP treated with IVC 0.25 mg were included. Blood samples were collected before treatment as well as 1 week and 4 weeks after treatment. Serum levels of 45 types of cytokines were measured by a multiplex bead assay. We observed that IVC 0.25 mg in ROP patients suppressed the circulating levels of VEGF-A and VEGF-D as of 1 week after injection, and these growth factor levels returned to baseline at 4 weeks. No significant differences were observed in the serum levels of the other cytokines between baseline and 1 or 4 weeks after IVC.


Assuntos
Citocinas/sangue , Proteínas Recombinantes de Fusão/administração & dosagem , Retinopatia da Prematuridade/tratamento farmacológico , Fator A de Crescimento do Endotélio Vascular/sangue , Feminino , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Lactente , Injeções Intravítreas , Masculino , Proteínas Recombinantes de Fusão/farmacologia , Retinopatia da Prematuridade/sangue , Resultado do Tratamento
19.
Front Pediatr ; 8: 226, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32478018

RESUMO

Background: As a leading cause of childhood blindness, the epidemic of retinopathy of prematurity (ROP) in China is characterized by advanced stage of ROP in more mature infants than those in the West. More advanced stage of disease necessitates more complicated surgical procedures and consequently exposure to general anesthesia. These ex-prematurely born infants are at risk of developing desaturation especially after surgery under general anesthesia. Physical status, anesthetic management and surgical profile are three main facets of perioperative setting and need to be investigated to identify useful predictors for perioperative adverse events in this population of fragile infants. Methods: In this retrospective cohort study, we enrolled all infants undergoing ROP surgeries at Peking University People's Hospital, Beijing, China from November 1, 2016 to October 31, 2017. Physical status, anesthesia and surgical management were analyzed by exploratory factor analysis and component matrix to explore risk factors for adverse events. Results: During the 12 months, 267 cases were included, among whom 61 infants underwent two surgeries required by their ophthalmological conditions. The median postconceptual age at the time of surgery was 46 (40, 53) weeks, and median body weight was 4.0 (3.0, 6.5) kg. None of the infants was dependent on caffeine, oxygen or ventilator before surgery. Bradycardia (29/267, 10.9%) and postoperative desaturation (34/267, 13.4%) were identified as major cardiac and respiratory adverse events. Preoperative atropine, intubation and bigger body weight would prevent patients suffering from bradycardia. Infants with a body weight less than 3.15 kg had a significantly higher chance of desaturation and neonatal intensive care unit admission after ROP surgeries than those who weighed more than 3.15 kg (27.8 vs. 5.1%, OR 5.46 (95% CI 2.66-11.21), P = 0.000). Conclusion: This study found that preoperative atropine and intubation would prevent bradycardia and low body weight was a predictor for both bradycardia and postoperative desaturation in preterm infants undergoing ROP surgeries.

20.
Acta Ophthalmol ; 98(8): e1004-e1008, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32385940

RESUMO

PURPOSE: To compare the effectiveness of intravitreal conbercept and ranibizumab treatment for retinopathy of prematurity (ROP). METHODS: In this retrospective study, the date of patients with ROP treated with intravitreal conbercept or ranibizumab from July 2012 to March 2018 with at least 12 months of follow-up at the Eye Center in People's Hospital of Peking University were analysed. Regression, progression or recurrence and peripheral retina vascularization were evaluated. RESULTS: In total, 283 eyes (145 infants) with conbercept treatment and 916 eyes (480 infants) with ranibizumab treatment were enrolled. In zone I ROP and aggressive posterior ROP (APROP), the recurrence prevalence was 49.09% (108/220 eyes) and 28.57% (10/33 eyes), and the recurrence interval was 7.87 ± 0.65 (5.5-9.5) weeks and 10.6 ± 1.53 (10.5-13) weeks in the ranibizumab and conbercept groups, respectively. In zone II ROP disease, the recurrence prevalence was 23.56% (164/696 eyes) and 13.31% (33/248 eyes), and the interval of recurrence was 8.40 ± 0.88 (6-10.5) weeks and 11.4 ± 1.35 (11-13.5) weeks in the ranibizumab and conbercept groups, respectively. The recurrence prevalence was significantly higher with ranibizumab in Zone I ROP and APROP (p = 0.006) and Zone II ROP (p < 0.001), and the recurrence interval was significantly longer in the conbercept group than that in the ranibizumab (p < 0.001). There was no significant difference in the rate of retinal vascularization (p = 0.441). CONCLUSION: Conbercept and ranibizumab are effective for treating ROP. Compared with ranibizumab, conbercept resulted in less recurrence and longer treatment intervals.


Assuntos
Ranibizumab/administração & dosagem , Proteínas Recombinantes de Fusão/administração & dosagem , Retinopatia da Prematuridade/tratamento farmacológico , Acuidade Visual , Inibidores da Angiogênese/administração & dosagem , Progressão da Doença , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Injeções Intravítreas , Masculino , Recidiva , Estudos Retrospectivos , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores
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