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1.
Retina ; 44(1): 166-174, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37695977

RESUMO

PURPOSE: To investigate the possible correlation factors of choroidal thickness in ABCA4 -related retinopathy. METHODS: A total of 66 patients were included in the cohort. It is a retrospective, cross-sectional laboratory investigation. The patients were tested using whole-exon sequencing and ophthalmic examinations, including slit-lamp examinations, best-corrected visual acuity, spectral-domain optical coherence tomography, fundus photograph, and fundus autofluorescence. RESULTS: Besides demographic characteristics (age, onset age, duration), we selected genetic factors and ocular characteristics on spectral-domain optical coherence tomography as the candidates related to choroidal thickness. Mutation type (inframe mutation or premature termination codon), epiretinal membrane, retinal pigment epithelium- Bruch membrane integrity, and macular curvature changes were identified as related factors to choroidal thickness in ABCA4 -related retinopathy after the adjustment of Logistic LASSO regression. CONCLUSION: Mutation type, epiretinal membrane, retinal pigment epithelium-Bruch membrane integrity, and macular curvature changes are related factors to choroidal thinning. These findings could provide us a further understanding for the pathological process and clinical features of ABCA4 mutation.


Assuntos
Membrana Epirretiniana , Doenças Retinianas , Humanos , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Estudos Transversais , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética , Doenças Retinianas/patologia , Transportadores de Cassetes de Ligação de ATP/genética
2.
BMC Ophthalmol ; 24(1): 215, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38760766

RESUMO

BACKGROUND: To investigate the clinical effects of double-dose (4 mg) aflibercept treatment in neovascular age-related macular degeneration (nAMD), compared with the standard-dose (2 mg) treatment. METHODS: A total of 108 eyes from 97 patients with nAMD and received intravitreal aflibercept 2 mg and/or 4 mg treatment were retrospectively reviewed. The changes of central macular thickness (CMT)/ pigmental epithelium detachment height and the recurrence rate of exudation during the 12-month follow-up were compared between the 2 mg group and the 4 mg group. Self-control comparisons (2 mg switch to 4 mg) were also made between two regimens. RESULTS: Compared with the 2 mg group, tendencies of lower intraretinal fluid incidence and more CMT reduction were observed in the 4 mg group. The later one was also observed when eyes switching from 2 mg to 4 mg regimen. The median remission interval was 5 months in the 4 mg group, 2 months longer than the 3 months in the 2 mg group (P = 0.452). Injections needed in the 4 mg group were 3.644 ± 1.670, less than the 4.286 ± 2.334 injections in the 2 mg group within 12 months as well (P = 0.151). However, no associated vision benefits were gained from the double-douse regimen. No markedly increased-intraocular pressure events, or other adverse events were found in two groups. CONCLUSIONS: Compared to the aflibercept 2 mg treatment in nAMD, tendencies of anatomic gains and relieving treatment burden were brought by the aflibercept 4 mg treatment. This study may have additional importance, given the further application of high-dose aflibercept in real-world settings.


Assuntos
Inibidores da Angiogênese , Injeções Intravítreas , Receptores de Fatores de Crescimento do Endotélio Vascular , Proteínas Recombinantes de Fusão , Tomografia de Coerência Óptica , Acuidade Visual , Degeneração Macular Exsudativa , Humanos , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão/administração & dosagem , Proteínas Recombinantes de Fusão/uso terapêutico , Masculino , Feminino , Estudos Retrospectivos , Idoso , Inibidores da Angiogênese/administração & dosagem , Inibidores da Angiogênese/uso terapêutico , Acuidade Visual/fisiologia , Degeneração Macular Exsudativa/tratamento farmacológico , Degeneração Macular Exsudativa/diagnóstico , Tomografia de Coerência Óptica/métodos , Idoso de 80 Anos ou mais , Relação Dose-Resposta a Droga , Seguimentos , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Resultado do Tratamento , Angiofluoresceinografia/métodos
3.
Pharm Biol ; 62(1): 42-52, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38112463

RESUMO

CONTEXT: Liuwei Dihuang pill (LWDH) has been used to treat postmenopausal osteoporosis (PMOP). OBJECTIVE: To explore the effects and mechanisms of action of LWDH in PMOP. MATERIALS AND METHODS: Forty-eight female Sprague-Dawley rats were divided into four groups: sham-operated (SHAM), ovariectomized (OVX), LWDH high dose (LWDH-H, 1.6 g/kg/d) and LWDH low dose (LWDH-L, 0.8 g/kg/d); the doses were administered after ovariectomy via gavage for eight weeks. After eight weeks, the bone microarchitecture was evaluated. The effect of LWDH on the differentiation of bone marrow mesenchymal stem cells (BMSCs) was assessed via osteogenesis- and lipogenesis-induced BMSC differentiation. The senescence-related biological indices were also detected using senescence staining, cell cycle analysis, quantitative real-time polymerase chain reaction and western blotting. Finally, the expression levels of autophagy-related proteins and Yes-associated protein (YAP) were evaluated. RESULTS: LWDH-L and LWDH-H significantly modified OVX-induced bone loss. LWDH promoted osteogenesis and inhibited adipogenesis in OVX-BMSCs. Additionally, LWDH decreased the positive ratio of senescence OVX-BMSCs and improved cell viability, cell cycle, and the mRNA and protein levels of p53 and p21. LWDH upregulated the expression of autophagy-related proteins, LC3, Beclin1 and YAP, in OVX-BMSCs and downregulated the expression of p62. DISCUSSION AND CONCLUSIONS: LWDH improves osteoporosis by delaying the BMSC senescence through the YAP-autophagy axis.


Assuntos
Células-Tronco Mesenquimais , Proteínas de Sinalização YAP , Animais , Feminino , Humanos , Ratos , Autofagia , Proteínas Relacionadas à Autofagia/metabolismo , Proteínas Relacionadas à Autofagia/farmacologia , Diferenciação Celular , Osteogênese , Ovariectomia , Ratos Sprague-Dawley
4.
Retina ; 43(4): 659-669, 2023 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-36729610

RESUMO

PURPOSE: To determine the prognostic value of outer retinal tubulation (ORT) in the eyes of a Chinese cohort with Bietti crystalline dystrophy (BCD). METHODS: This retrospective, multicenter cohort study enrolled 42 patients with clinically and genetically diagnosed BCD. Eighty eyes with good-quality images of spectral domain optical coherence tomography were included. Demographic details and clinical data were collected. The characteristics of ORT, including prevalence, location, and morphologic characteristics were analyzed. RESULTS: Forty-two patients with BCD harbored potentially CYP4V2 disease-causing mutations. The mutation spectrum comprised 17 unique variants, 9 of which were novel. Fifty-two of these 80 eyes demonstrated evidence of ORT. The incidence of ORT is significantly higher in Stage 2 than other stages ( P < 0.001). ORT was mainly bilateral and located at the margin of the atrophic area of retinal pigment epithelium (RPE), and dynamically changed with the progressive RPE atrophy. The process of RPE atrophy was slower in eyes with ORT ( P = 0.017), with significantly longer intact RPE width in Stage 3 ( P = 0.024). Eyes with ORT had slower vision loss than eyes without ORT ( P = 0.044). CONCLUSION: ORT may be a sign of the onset of RPE atrophy in early-stage BCD and may suggest less risk of rapid progression in late-stage BCD.


Assuntos
Degeneração Retiniana , Doenças Retinianas , Humanos , Epitélio Pigmentado da Retina/patologia , Estudos Retrospectivos , Estudos de Coortes , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética , Doenças Retinianas/patologia , Degeneração Retiniana/patologia , Tomografia de Coerência Óptica , Atrofia/patologia
5.
BMC Ophthalmol ; 23(1): 280, 2023 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-37328806

RESUMO

BACKGROUND: Retinal arterial macroaneurysm (RAM) is a common clinical disease leading to vision loss in elderly individuals. The appropriate interpretation of swept-source optical coherence tomographic angiography (SS-OCTA), a noninvasive examination, is easy and convenient for detecting the status of RAMs and guiding treatment. METHODS: The objectives of this study were to describe the morphologic characteristics of RAMs using SS-OCTA and to observe whether there are differences in the morphologies of RAMs between SS-OCTA and fundus fluorescein angiography (FFA), before and after treatment. We retrospectively evaluated twenty-two eyes of 22 patients who were diagnosed with RAMs. All patients underwent a complete ophthalmologic examination, including a review of medical records, best-corrected visual acuity (BCVA), fundus photography, FFA and SS-OCTA. RAMs were recorded by SS-OCTA before any treatment or observation decisions were made. The morphologic findings of the RAMs on SS-OCTA were investigated. RESULTS: On SS-OCTA, RAMs can show local dilatation or an irregular linear blood flow signal, and the dilated cystic lumen may show thrombosis with a low reflection signal. After treatment, the shape of the RAMs will show reactive changes. The findings on SS-OCTA are not very consistent with those on FFA. CONCLUSIONS: The same RAM may have different manifestations on OCTA and FFA, and OCTA can more conveniently reflect the changes in blood flow signals and treatment response of RAMs.


Assuntos
Macroaneurisma Arterial Retiniano , Humanos , Olho , Angiofluoresceinografia/métodos , Vasos Retinianos/diagnóstico por imagem , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos
6.
Molecules ; 28(3)2023 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-36770667

RESUMO

As hazardous environmental pollutants, residual tetracycline (TC) and acetone are harmful to the ecosystem. Therefore, it is necessary to detect the presence of these pollutants in the environment. In this work, using Zn (II) salt, 4-(4-carboxy phenoxy) phthalic acid (H3L), and 3,5-bis(1-imidazolyl) pyridine (BMP), a new metal-organic framework (Zn-MOF) known as [Zn3(BMP)2L2(H2O)4]·2H2O was synthesized using a one-pot hydrothermal method. The Zn-MOF has a three-dimensional framework based on the [Zn1N2O2] and [Zn2N2O4] nodes linked by a tridentate bridge BMP ligand and an L ligand with the µ1:η1η0/µ1:η1η0/µ0:η0η0 coordination mode. There were two kinds of left- and right-handed helix chains, Zn1-BMP and Zn1-BMP-Zn1-L. The complex was stable in aqueous solutions with pH values of 4-10. The Zn-MOF exhibited a strong emission band centered at 385 nm owing to the π*→π electron transition of the ligand. It showed high luminescence in some common organic solvents as well as in the aqueous solutions of pH 4-10. Interestingly, TC and acetone effectively quenched the luminescence of the Zn-MOF in aqueous solution and enabled the Zn-MOF to be used as a sensor to detect TC and acetone. The detection limits of TC and acetone were observed to be 3.34 µM and 0.1597%, respectively. Even in acidic (pH = 4) and alkaline (pH = 10) conditions, the Zn-MOF showed a stable luminescence sensing capability to detect TC. Luminescence sensing of the Zn-MOF for TC in urine and aquaculture wastewater systems was not affected by the interfering agent. Furthermore, the mechanism of sensing TC was investigated in this study. Fluorescence resonance energy transfer and photoinduced electron transfer were found to be the possible quenching mechanisms via UV-Vis absorption spectra/the excitation spectra measurements and DFT calculations.

7.
Hum Mutat ; 43(12): 2279-2294, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36317469

RESUMO

Retinitis pigmentosa (RP) is a monogenic disease characterized by irreversible degeneration of the retina. PRPF31, the second most common causative gene of autosomal dominant RP, frequently harbors copy number variations (CNVs), but the underlying mechanism is unclear. In this study, we summarized the phenotypic and genotypic characteristics of 18 RP families (F01-F18) with variants in PRPF31. The prevalence of PRPF31 variants in our cohort of Chinese RP families was 1.7% (18/1024). Seventeen different variants in PRPF31 were detected, including eight novel variants. Notably, four novel CNVs encompassing PRPF31, with a proportion of 22.2% (4/18), were validated to harbor gross deletions involving Alu/Alu-mediated rearrangements (AAMRs) in the same orientation. Among a total of 12 CNVs of PRPF31 with breakpoints mapped on nucleotide-resolution, 10 variants (83.3%) were presumably mediated by Alu elements. Furthermore, we described the correlation between the genotypes and phenotypes in PRPF31-related RP. Our findings expand the mutational spectrum of the PRPF31 gene and provide strong evidence that Alu elements of PRPF31 probably contribute to the susceptibility to genomic rearrangement in this locus.


Assuntos
Variações do Número de Cópias de DNA , Retinose Pigmentar , Humanos , Análise Mutacional de DNA , Proteínas do Olho/genética , Linhagem , Retinose Pigmentar/genética , Mutação , Genes Dominantes
8.
BMC Ophthalmol ; 22(1): 197, 2022 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-35484529

RESUMO

BACKGROUND: To evaluate the efficacy of MP-3 microperimeter biofeedback fixation training (MBFT) in vision rehabilitation of low-vision patients affected by macular disease with central vision loss. METHODS: Seventeen eyes (7 age-related macular degeneration, 10 myopic maculopathy) of 17 patients were included in this prospective, interventional study. The preferred retinal locus was determined by comprehensive ophthalmoscopic fundus evaluation including fundus photography, autofluorescence, optical coherence tomography, and microperimetry. The rehabilitation consisted of three 10-min sessions per eye to be performed twice per week for 20 consecutive weeks using the MP-3 microperimeter. Best corrected visual acuity (BCVA), reading speed, mean central sensitivity, the percentages of fixation points within specified regions, bivariate contour ellipse area (BCEA) and the 25-item National Eye Institute visual function questionnaire (NEI-VFQ-25) were recorded pre- and post-training. RESULTS: The final BCVA, reading speed and mean central sensitivity all showed significant improvements after rehabilitation (P <  0.0001, P = 0.0013, and P = 0.0002, respectively). The percentages of fixation points located within 2° and 4° diameter circles both significantly increased after training (P = 0.0008 and P = 0.0007, respectively). The BCEA encompassing 68.2, 95.4, 99.6% of fixation points were all significantly decreased after training (P = 0.0038, P = 0.0022, and P = 0.0021, respectively). The NEI-VFQ-25 scores were significantly increased at the end of the rehabilitation training (P <  0.0001). CONCLUSION: Rehabilitation with MP-3 MBFT is a user-friendly therapeutic option for improving visual function, fixation stability, and quality of life in advanced macular disease. TRIAL REGISTRATION: The prospective study was registered with the Chinese Clinical Trial Registry ( http://www.chictr.org.cn/ ). TRIAL REGISTRATION NUMBER: ChiCTR2000029586 . Date of registration: 05/02/2020.


Assuntos
Degeneração Macular , Doenças Retinianas , Baixa Visão , Biorretroalimentação Psicológica/métodos , Humanos , Estudos Prospectivos , Qualidade de Vida , Retina , Acuidade Visual
9.
Int J Mol Sci ; 23(7)2022 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-35408998

RESUMO

TRPC6, the sixth member of the family of canonical transient receptor potential (TRP) channels, contributes to a variety of physiological processes and human pathologies. This study extends the knowledge on the newly developed TRPC6 blocker SH045 with respect to its main target organs beyond the description of plasma kinetics. According to the plasma concentration-time course in mice, SH045 is measurable up to 24 h after administration of 20 mg/kg BW (i.v.) and up to 6 h orally. The short plasma half-life and rather low oral bioavailability are contrasted by its reported high potency. Dosage limits were not worked out, but absence of safety concerns for 20 mg/kg BW supports further dose exploration. The disposition of SH045 is described. In particular, a high extravascular distribution, most prominent in lung, and a considerable renal elimination of SH045 were observed. SH045 is a substrate of CYP3A4 and CYP2A6. Hydroxylated and glucuronidated metabolites were identified under optimized LC-MS/MS conditions. The results guide a reasonable selection of dose and application route of SH045 for target-directed preclinical studies in vivo with one of the rare high potent and subtype-selective TRPC6 inhibitors available.


Assuntos
Espectrometria de Massas em Tandem , Animais , Disponibilidade Biológica , Cromatografia Líquida , Camundongos , Canal de Cátion TRPC6
10.
BMC Biotechnol ; 21(1): 44, 2021 07 26.
Artigo em Inglês | MEDLINE | ID: mdl-34311732

RESUMO

BACKGROUND: 4-vinylphenols produced by phenolic acid degradation catalyzed by phenolic acid decarboxylase can be used in food additives as well as flavor and fragrance industry. Improving the catalytic characters of phenolic acid decarboxylase is of great significance to enhance its practical application. RESULTS: A phenolic acid decarboxylase (P-WT) was created from Bacillus amyloliquefaciens ZJH-01. Mutants such as P-C, P-N, P-m1, P-m2, P-Nm1, and P-Nm2 were constructed by site-directed mutagenesis of P-WT. P-C showed better substrate affinities and higher turnover rates than P-WT for p-coumaric acid, ferulic acid, and sinapic acid; however, P-N had reduced affinity toward p-coumaric acid. The extension of the C-terminus increased its acid resistance, whereas the extension of the N-terminus contributed to the alkali resistance and heat resistance. The affinity of P-m1 to four substrates and that of P-m2 to p-coumaric acid and ferulic acid were greatly improved. However, the affinity of P-Nm2 to four phenolic acids was greatly reduced. The residual enzyme activities of P-Nm1 and P-Nm2 considerably improved compared with those of P-m1 and P-m2 after incubation at 50 °C for 60 min. CONCLUSIONS: The extension of the N-terminus may be more conducive to the combination of the binding cavity with the substrate in an alkaline environment and may make its structure more stable.


Assuntos
Bacillus amyloliquefaciens/enzimologia , Proteínas de Bactérias/química , Proteínas de Bactérias/genética , Carboxiliases/química , Carboxiliases/genética , Engenharia de Proteínas , Bacillus amyloliquefaciens/química , Bacillus amyloliquefaciens/genética , Proteínas de Bactérias/metabolismo , Carboxiliases/metabolismo , Catálise , Ácidos Cumáricos/metabolismo , Mutagênese Sítio-Dirigida , Domínios Proteicos
11.
Lipids Health Dis ; 20(1): 25, 2021 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-33722242

RESUMO

BACKGROUND: To investigate the correlation between the thickness of epicardial adipose tissue (EAT), C-reactive protein (CRP), interleukin (IL) -6, visfatin, juxtaposed with another zinc finger protein 1 (JAZF1) and type 2 diabetic mellitus (T2DM) macroangiopathy. METHODS: The study enrolled 82 patients with T2DM with macroangiopathy (the Complication Group), and 85 patients with T2DM (the Diabetes Group) who were admitted to Shandong Provincial Third Hospital from February 2018 to February 2020. In addition, 90 healthy people who underwent physical examination at the same hospital during the same period were enrolled (the Healthy Control Group). Age, gender, height, weight, waist circumference (WC), hip circumference (HC), diabetic course and therapeutic drugs, waist hip ratio (WHR), and body mass index (BMI) were recorded and calculated. RESULTS: The baseline characteristics of the three groups were comparable, and the diabetic course of the Complication Group and the Diabetes Group was not significantly different (P > 0.05). The WHR of the Complication Group was higher than that of the Diabetes Group and the Healthy Control Group, with statistical significance (P < 0.05). The FPG, 2hPG, HbA1C, CRP, IL-6, Visfatin, JAZF1, HOMA-IR, EAT thickness, and baPWV of the Complication Group were all higher than those of the Diabetes Group and the Healthy Control Group (P < 0.05, respectively). The JAZF1 and FIns of the Complication Group and Diabetes Group were lower than those of the Healthy Control Group, and JAZF1 of the Complication Group was lower than the Diabetes Group with statistical significance (P<0.05, respectively). Pearson correlation analysis showed that the EAT thickness was positively correlated with CRP, IL-6, visfatin, and JAZF1 (r = 0.387, 0.451, 0.283, 0.301, respectively, all P<0.001). Pearson correlation analysis showed that baPWV was positively correlated with EAT thickness, CRP, IL-6, visfatin, and JAZF1 (r = 0.293, 0.382, 0.473, 0.286, respectively, all P < 0.001). Multivariate stepwise regression analysis showed that FPG, 2hPG, HbA1C, CRP, IL-6, visfatin, JAZF1, and EAT thickness were independent risk factors that affected T2DM macroangiopathy. CONCLUSIONS: Clinical monitoring and treatment of T2DM macroangiopathy can use CRP, IL-6, Visfatin, JAZF1, and EAT thickness as new targets to delay the progression of the disease. Further research on the relationship between the above factors and the pathogenesis of T2DM macroangiopathy may be helpful provide new treatment strategies.


Assuntos
Proteína C-Reativa/genética , Proteínas Correpressoras/genética , Proteínas de Ligação a DNA/genética , Diabetes Mellitus Tipo 2/genética , Angiopatias Diabéticas/genética , Tecido Adiposo/metabolismo , Tecido Adiposo/patologia , Idoso , Índice de Massa Corporal , Correlação de Dados , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/patologia , Angiopatias Diabéticas/sangue , Angiopatias Diabéticas/patologia , Feminino , Humanos , Interleucina-6/genética , Masculino , Pessoa de Meia-Idade , Nicotinamida Fosforribosiltransferase/genética , Pericárdio/metabolismo , Pericárdio/patologia , Relação Cintura-Quadril
12.
Cutan Ocul Toxicol ; 40(1): 7-13, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33283549

RESUMO

Purpose: This study aimed to investigate the protective effects of quercetin on the tight junction proteins of human retinal pigment epithelial cells (ARPE-19 cells) suffering from oxidative stress injury and explore the possible mechanism.Methods: H2O2 (300 µM) was used to establish an oxidative stress model of ARPE-19 cells. ARPE-19 cells were pretreated with different concentrations (0-80 µM) of quercetin before H2O2 exposure. The expression and distribution of tight junction proteins and autophagy-related proteins were detected by Western blot and immunostaining. ARPE-19 cells were pretreated with 5 mM 3-methyladenine (3-MA).Results: The cell viability weakened in the H2O2 group compared with the control group. However, it was preserved after pretreatment with quercetin. It was observed that the expression levels of occludin, claudin-1 were decreased in the H2O2 group. Quercetin treatment significantly enhanced the expression levels of them as compared to the H2O2 group. H2O2 alone strongly decreased the Zonula occludens protein 1 (ZO-1) expression in the cytomembrane. Quercetin supplementation enhanced the accumulation of ZO-1 in ARPE-19 cells. The expression levels of Beclin-1 and Microtubule associated protein light chain 3 II (LC-3II) increased, and that of P62 decreased in the quercetin protection group. The appearance of LC-3II, which examined by immunofluorescence experiments, enhanced in the quercetin protection group as compared with the control group. The expression levels of beclin-1 and LC-3II increased, and that of P62 increased in the autophagy-inhibited group compared with the quercetin protection group. The levels of occludin and claudin-1 also decreased.Conclusion: Quercetin prevents the loss of tight junction proteins by upregulating autophagy after oxidative stress in ARPE-19 cells.


Assuntos
Autofagia/efeitos dos fármacos , Peróxido de Hidrogênio/metabolismo , Degeneração Macular/prevenção & controle , Substâncias Protetoras/farmacologia , Quercetina/farmacologia , Linhagem Celular , Sobrevivência Celular/efeitos dos fármacos , Avaliação Pré-Clínica de Medicamentos , Humanos , Degeneração Macular/patologia , Estresse Oxidativo/efeitos dos fármacos , Substâncias Protetoras/uso terapêutico , Quercetina/uso terapêutico , Epitélio Pigmentado da Retina/efeitos dos fármacos , Epitélio Pigmentado da Retina/patologia , Junções Íntimas/efeitos dos fármacos , Junções Íntimas/patologia
13.
Ophthalmologica ; 243(5): 360-369, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32008002

RESUMO

AIMS: To analyze ocular fundus characteristics of patients finally diagnosed with fibrinous central serous chorioretinopathy (CSC) using multimodal imaging and compare the characteristics with images of other confusable exudative maculopathies. METHODS: We retrospectively reviewed the records from 189 patients with CSC and found records on 16 patients with fibrinous CSC. Some of these 16 patients were misdiagnosed with another exudative maculopathy and were treated inappropriately. Multimodal imaging comprised fundus photography, spectral-domain optical coherence tomography (OCT), fluorescein angiography (FA), indocyanine green angiography (ICGA), and OCT angiography (OCTA), and the results were compared with those of other exudative maculopathy patients from this study. RESULTS: Twenty-one eyes of 16 patients with a mean age of 45.44 ± 10.66 years were included in the study. The mean central choroidal thickness was 401.6 ± 47.6 µm. Eight of the 16 patients with fibrinous CSC had initially been misdiagnosed (such as with uveitis or exudative retinal detachment). On fundoscopy, a typical dark spot was seen in 19 eyes, surrounded by yellow-white exudate, corresponding to the site of leakage on FA. A hyporeflective oval-shaped vacuole-like area was observed in 14 patients. All patients showed FA signs of dye leakage and dilated choroidal vessels on ICGA. Among the patients misdiagnosed with choroidal neovascularization (CNV), OCTA showed a legible branching vessel and no signs of a blood flow signal breaking Bruch's membrane. CONCLUSIONS: A dark spot on fundus photography images and a hyporeflective vacuole on OCT are important clinical signs that can help avoid misdiagnosing fibrinous CSC. With some small confusing lesions suspected as CNV or chronic CSC in elderly patients, OCTA may help in their identification. FA/ICGA still helps to show dye leakage sites and typical dilated choroidal vessels in fibrinous CSC, similar to other common CSCs. Multimodal imaging is mandatory in order to establish an appropriate diagnosis.


Assuntos
Corioide/patologia , Angiofluoresceinografia/métodos , Macula Lutea/patologia , Imagem Multimodal , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Degeneração Macular Exsudativa/diagnóstico , Adulto , Coriorretinopatia Serosa Central/diagnóstico , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
14.
Ophthalmology ; 2024 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-38349300
15.
Graefes Arch Clin Exp Ophthalmol ; 257(3): 619-628, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30588538

RESUMO

PURPOSE: To characterize two patients with macular and rod-cone dystrophy and identify the genetic basis for disease. METHOD: Ophthalmic examinations were performed for the family and the peripheral blood samples were collected for whole exome sequencing. The mutated sequences of PROM1 gene were cloned and expressed in cultured cell lines after transient transfection followed by analysis with confocal microscopy and bridge-PCR. RESULT: We reported that two patients, brothers in a family, were diagnosed with macular and rod-cone dystrophy. Phenotypically, both patients experience progressive visual impairment and nyctalopia. The fundus examination showed macular and choroid dystrophy with pigment deposits in the macular region. Functionally, photoreceptor response to electrophysiological stimulation was significantly compromised with more severe decline in rods. Genetic analysis by whole exome sequencing revealed two novel compound heterogeneous point mutations in PROM1 gene that co-segregate with patients in an autosomal recessive manner. Specifically, the c.C1902G(p.Y634X) nonsense mutation results in a truncated, labile, and mislocalized protein, while the c.C1682+3A>G intronic mutation disrupts messenger RNA splicing. CONCLUSION: Our findings have identified two novel deleterious mutations in PROM1 gene that are associated with hereditary macular and rod-cone dystrophy in human.


Assuntos
Antígeno AC133/genética , Distrofias de Cones e Bastonetes/genética , DNA/genética , Mutação , Células Fotorreceptoras Retinianas Bastonetes/patologia , Tomografia de Coerência Óptica/métodos , Antígeno AC133/metabolismo , Adulto , Western Blotting , Células Cultivadas , Distrofias de Cones e Bastonetes/diagnóstico , Distrofias de Cones e Bastonetes/metabolismo , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Genes Recessivos , Humanos , Masculino , Microscopia Confocal , Pessoa de Meia-Idade , Linhagem , Fenótipo , Reação em Cadeia da Polimerase
17.
Ophthalmologica ; 242(3): 178-186, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31195396

RESUMO

PURPOSE: The purpose of this study was to use optical coherence tomography angiography (OCTA) to compare the morphology characteristics of type 1 and 2 choroidal neovascularization (CNV) in neovascular age-related macular degeneration (nAMD) patients. MATERIALS AND METHODS: This is a retrospective, observational study of 51 eyes with nAMD using OCTA from July 2016 through March 2017. RESULTS: In total, 51 eyes of 50 patients were included in the analysis. According to the anatomical classification based on OCT, 27 eyes (53%) were diagnosed with type 1 CNV, and 24 eyes (47%) were type 2 CNV. Type 2 CNV was characterized by smaller flow area, smaller greatest vascular caliber (GVC), smaller greatest linear dimension (GLD), and shorter duration of disease. The duration of disease only correlated with GVC (p = 0.026) in multivariate linear regression results. Meanwhile, GLD correlated with GVC and flow area whereas GVC was not associated with flow area. CONCLUSION: This study demonstrated that type 2 CNV was characterized by shorter duration of disease, smaller GVC, smaller GLD, and smaller flow area compared with type 1 CNV. Additionally, we showed that the duration of the disease correlated with GVC of the CNV.


Assuntos
Corioide/patologia , Neovascularização de Coroide/diagnóstico , Angiofluoresceinografia/métodos , Macula Lutea/patologia , Vasos Retinianos/patologia , Tomografia de Coerência Óptica/métodos , Degeneração Macular Exsudativa/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos
18.
BMC Ophthalmol ; 18(1): 304, 2018 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-30466418

RESUMO

BACKGROUND: A rodent model of photodynamic AION resulting from intravenous verteporfin is presented. The analysis of the morphological function, the pathological changes and the potential mechanism of action were further investigated. METHODS: Photodynamic treatment was conducted on the optic nerve head (ONH) following administration of the photosensitizer. The fellow eye was considered as sham control. Fundus Fluorescein angiography (FFA), spectral domain optical coherence tomography (SD-OCT) and Flash-visual evoked potential (F-VEP) recordings were conducted at different time points. Immunohistochemistry was used to observe apoptotic cell death (TUNEL) and macrophage infiltration (ED-1/Iba-1). Retrograde labeling of retinal ganglion cells (RGCs) was used to evaluate the loss of RGCs. RESULTS: After laser treatment, SD-OCT indicated optic nerve edema, while FFA indicated late leakage of the ONH. F-VEPs were distinctly reduced compared to control eyes. The number of apoptotic RGCs peaked on day 14 (5.71 ± 0.76, p < 0.01). The infiltration of ED-1 and Iba-1 increased on the 3rd day following PDT, while it peaked on day 14 (67.5 ± 9.57 and 77.5 ± 12.58 respectively, p < 0.01). Following 3 weeks of AION, the densities of RGCs in the central retinas of the normal and AION eyes were 3075 ± 298/mm2 and 2078 ± 141/mm2 (p < 0.01), respectively. CONCLUSIONS: Verteporfin photodynamic treatment on rodents ONH can lead to functional, histological, and pathological changes. This type of animal model of AION is easy to establish and stable. It can be used for studying the mechanism and neuroprotective medicine of AION injury.


Assuntos
Neuropatia Óptica Isquêmica/fisiopatologia , Fármacos Fotossensibilizantes/toxicidade , Verteporfina/toxicidade , Animais , Modelos Animais de Doenças , Potenciais Evocados Visuais/fisiologia , Angiofluoresceinografia , Lasers , Masculino , Disco Óptico/patologia , Ratos Sprague-Dawley , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica
19.
Lasers Surg Med ; 50(3): 194-201, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28986994

RESUMO

OBJECTIVE: To investigate microcirculation characteristics of peripapillary superficial retina and optic disc in eyes with nonarteritic anterior ischemic optic neuropathy (NAION) using optical coherence tomography angiography (OCTA). METHODS: Forty-one eyes of 30 NAION patients and 30 eyes of 30 normal subjects were evaluated with OCTA (AngioVue, Optovue). The whole vessel density, inside disc vessel density, peripapillary vessel density, and vessel densities based on the sectorial division in the nerve head mode peripapillary superficial retina and RPC mode optic disc were measured respectively. RESULTS: In the NAION group, vessel densities in both the peripapillary superficial retina and optic disc were significant reduced (P < 0.01), as compared with the control group. The whole vessel density of the optic disc in chronic NAION group were significantly lower than that in acute NAION group (P < 0.01). The whole and temporal vessel density of the peripapillary superficial retina was significantly correlated with log MAR VA (r = -0.381 and r = -0.337, both P < 0.05). Vessel densities in both the peripapillary superficial retina and optic disc were reduced (P < 0.05) in unilateral involved eyes, as compared to the unaffected fellow eyes, except for the inside disc (P = 0.270) and SN (P = 0.054) vessel density in the optic disc, while there was no difference in the fellow eyes compared to the normal eyes. CONCLUSION: In NAION patients, a dropout of microvasculature in peripapillary superficial retina and optic disc could be detected by OCTA directly. OCTA might become a useful tool for detection and monitoring of NAION. Lasers Surg. Med. 50:194-201, 2018. © 2017 Wiley Periodicals, Inc.


Assuntos
Angiografia , Microvasos/diagnóstico por imagem , Disco Óptico/irrigação sanguínea , Neuropatia Óptica Isquêmica/diagnóstico por imagem , Tomografia de Coerência Óptica , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
20.
Lasers Surg Med ; 50(10): 987-993, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29896889

RESUMO

PURPOSE: The present study analyzed the appearances of optical coherence tomography angiography (OCTA) in patients with central serous chorioretinopathy (CSC) based on fluorescein angiography (FA) and indocyanine green angiography (ICGA). METHOD: In the current case series, 54 eyes of 50 patients diagnosed as CSC were evaluated retrospectively. OCTA, FA, and ICGA were performed on each patient. Two trained observers examined the OCTA images independently to confirm and compare the choriocapillary appearance with that on FA/ICGA. Also, the leakage of vessels on FA, perfusion of choroidal blood flow on ICGA, blood flow density, and vascular morphology on OCTA, as well as, the effect of serous retinal detachment (SRD) on imaging were observed. Furthermore, the image findings of contralateral eyes were included. RESULTS: 47/54 eyes (corresponding to 43 patients in 50 patients) were finally diagnosed with CSC that presented a leakage on FA and dilated vessels on ICGA, and the corresponding areas could be recognized on OCTA. However, in some of the cases (15 eyes, 31.9%), a portion of the leakage lesion on FA did not overlap completely with that on OCTA. On the OCTA B-scan, six eyes did not show a choriocapillary flow signal under subretinal fluid (SRF) with a median SRD height of 485 µm, despite the dilated vessels on ICGA. Approximately, 21 contralateral eyes without SRD and leakage presented dilated vessels on ICGA; however, only 13 eyes could be recognized on OCTA. In addition, seven eyes presented CSC on FA/ICGA but manifested explicit abnormal vascularization beneath the retinal pigment epithelium (RPE) on OCTA. CONCLUSION: FA/ICGA remains the gold standard for the diagnosis of CSC and cannot be completely replaced by OCTA. However, in some cases displaying hot-spots CNV, OCTA can contribute toward a definite diagnosis. The SRD height may exert a shielding effect on the choriocapillary flow signals on OCTA. Lasers Surg. Med. 50:987-993, 2018. © 2018 Wiley Periodicals, Inc.


Assuntos
Coriorretinopatia Serosa Central/diagnóstico por imagem , Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodos , Adulto , Idoso , Corantes , Estudos Transversais , Feminino , Humanos , Verde de Indocianina , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
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