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1.
Neurol Sci ; 45(3): 1173-1183, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37853292

RESUMO

PURPOSE: To investigate the rate of development of symptomatic central nervous system (CNS) demyelinating attacks or recurrent optic neuritis (ON) after the first episode of ON and its risk factors for Korean pediatric patients. METHODS: This multicenter retrospective cohort study included the patients under 18 years of age (n=132) diagnosed with ON without previous or simultaneous CNS demyelinating diseases. We obtained the clinical data including the results of neuro-ophthalmological examinations, magnetic resonance images (MRIs), antibody assays, and laboratory tests. We investigated the chronological course of demyelinating disease with respect to the occurrence of neurological symptoms and/or signs, and calculated the 5-year cumulative probability of CNS demyelinating disease or ON recurrence.  RESULTS: During the follow-up period (63.1±46.7 months), 18 patients had experienced other CNS demyelinating attacks, and the 5-year cumulative probability was 14.0±3.6%. Involvement of the extraorbital optic nerve or optic chiasm and asymptomatic lesions on the brain or spinal MRI at initial presentation were significant predictors for CNS demyelinating attack after the first ON. The 5-year cumulative probability of CNS demyelinating attack was 44.4 ± 24.8% in the AQP4-IgG group, 26.2±11.4% in the MOG-IgG group, and 8.7±5.9% in the double-negative group (P=0.416). Thirty-two patients had experienced a recurrence of ON, and the 5-year cumulative probability was 24.6±4.0%. In the AQP4-IgG group, the 5-year cumulative probability was 83.3±15.2%, which was significantly higher than in the other groups (P<0.001). CONCLUSIONS: A careful and multidisciplinary approach including brain/spinal imaging and antibody assay can help predict further demyelinating attacks in pediatric ON patients.


Assuntos
Doenças Desmielinizantes , Neuromielite Óptica , Neurite Óptica , Humanos , Criança , Adolescente , Estudos Retrospectivos , Glicoproteína Mielina-Oligodendrócito , Neurite Óptica/diagnóstico por imagem , Neurite Óptica/epidemiologia , Encéfalo/metabolismo , Autoanticorpos , Imunoglobulina G , República da Coreia/epidemiologia , Doenças Desmielinizantes/diagnóstico por imagem , Doenças Desmielinizantes/epidemiologia , Aquaporina 4
2.
BMC Ophthalmol ; 23(1): 510, 2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38098018

RESUMO

BACKGROUND: This study evaluate the efficacy of part-time patching in preventing recurrence after bilateral lateral rectus recession (BLR) in patients with intermittent exotropia (IXT). METHODS: A total of 190 children aged 3-13 years who experienced recurrence after BLR for IXT and received part-time patching were retrospectively reviewed. The patching was prescribed for 2 h per day for more than 6 months. Patients who had a recurrence of 18 PD or more underwent reoperation. Changes in exodeviation and reoperation ratio after part-time patching were analyzed. RESULTS: A total of 34 patients (17.9%) received reoperation after part-time patching, and the reoperation ratio after 2 years was 20.3% as per the Kaplan-Meier survival analysis. Patients with a recurrence of 7 to 10 PD showed a significantly better effect compared to those with a recurrence of more than 10 PD (p < 0.001), and the reoperation ratio was also lower in the survival analysis (p = 0.004). The factor associated with reoperation in patients with part-time patching was the duration between the operation and the initiation of part-time patching (hazard ratio [HR] = 1.006, p = 0.002). CONCLUSIONS: Part-time patching was effective in maintaining the efficacy of surgery and delaying the need of reoperation after BLR. This effect was better in patients with a recurrence of ≤ 10 PD.


Assuntos
Exotropia , Criança , Humanos , Seguimentos , Resultado do Tratamento , Exotropia/cirurgia , Exotropia/etiologia , Estudos Retrospectivos , Visão Binocular , Procedimentos Cirúrgicos Oftalmológicos , Músculos Oculomotores/cirurgia , Doença Crônica , Recidiva
3.
Int J Mol Sci ; 24(2)2023 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-36674802

RESUMO

Uncovering region-specific changes in the myopic retina can provide clues to the pathogenesis of myopia progression. After imposing form deprivation myopia in the right eye of 6-week-old rabbits, we investigated the proteome profile of each retinal region (central, mid-periphery, and far-periphery retina), using accurate high-resolution mass spectrometry. Protein expression was analyzed using gene ontology and network analysis compared with that of the control, the left eyes. Among 2065 proteins detected from whole retinal samples, 249 differentially expressed proteins (DEPs) were identified: 164 DEPs in the far-periphery, 39 in the mid-periphery, and 83 in the central retina. In network analysis, the far-periphery retina showed the most significant connectivity between DEPs. The regulation of coagulation was the most significant biological process in upregulated DEPs in the far-periphery retina. Proteasome was the most significant Kyoto Encyclopedia of Genes and Genomes pathway in downregulated DEPs in the central retina. Antithrombin-III, fibrinogen gamma chain, and fibrinogen beta chain were identified as hub proteins for myopia progression, which were upregulated in the far-periphery retina. Proteomic analysis in this study suggested that oxidative stress can be the primary pathogenesis of myopia progression and that the far-periphery retina plays a role as the key responder.


Assuntos
Miopia , Proteoma , Animais , Coelhos , Proteoma/metabolismo , Proteômica/métodos , Retina/metabolismo , Miopia/patologia , Espectrometria de Massas em Tandem
4.
Mol Vis ; 26: 26-35, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32165824

RESUMO

Purpose: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype-phenotype correlation in a Korean cohort. Methods: This single-center retrospective case series included 50 Korean patients with LCA between June 2015 and March 2019. Molecular analysis was conducted using targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing. The molecular diagnosis was made based on the inheritance pattern, zygosity, and pathogenicity. Results: Among the 50 patients, 27 patients (54%) were male, and 11 (22%) showed systemic features. Genetic variants highly likely to be causative were identified in 78% (39/50) of cases and segregated into families. We detected two pathogenic or likely pathogenic variants in a gene linked to a recessive trait without segregation analysis in three cases (6.0%). GUCY2D (20%), NMNAT1 (18%), and CEP290 (16%) were the most frequently mutated genes in Korean LCA. Copy number variations were found in three patients, which accounted for 6% of LCA cases. A possible dual molecular diagnosis (Senior-Løken syndrome along with Leigh syndrome, and Joubert syndrome with transposition of the great arteries) was made in two patients (4%). Three of 50 patients were medically or surgically actionable: one patient for RPE65 gene therapy and two patients with WDR19 Senior-Løken syndrome for early preparation for kidney and liver transplantations. Conclusions: This study demonstrated that approximately 4% of patients may have dual molecular diagnoses, and 6% were surgically or medically actionable in LCA. Therefore, accurate molecular diagnosis and careful interpretation of next-generation sequencing results can be of great help in patients with LCA.


Assuntos
Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Ciliopatias/genética , Variações do Número de Cópias de DNA/genética , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Amaurose Congênita de Leber/diagnóstico , Amaurose Congênita de Leber/genética , Doença de Leigh/genética , Atrofias Ópticas Hereditárias/genética , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Adolescente , Adulto , Antígenos de Neoplasias/sangue , Antígenos de Neoplasias/genética , Proteínas de Ciclo Celular/sangue , Proteínas de Ciclo Celular/genética , Criança , Pré-Escolar , Ciliopatias/diagnóstico , Proteínas do Citoesqueleto/sangue , Proteínas do Citoesqueleto/genética , Anormalidades do Olho/diagnóstico , Feminino , Estudos de Associação Genética , Terapia Genética , Guanilato Ciclase/sangue , Guanilato Ciclase/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Peptídeos e Proteínas de Sinalização Intracelular/genética , Doenças Renais Císticas/diagnóstico , Amaurose Congênita de Leber/diagnóstico por imagem , Amaurose Congênita de Leber/terapia , Doença de Leigh/diagnóstico , Masculino , Mutação , Nicotinamida-Nucleotídeo Adenililtransferase/sangue , Nicotinamida-Nucleotídeo Adenililtransferase/genética , Atrofias Ópticas Hereditárias/diagnóstico , Transplante de Órgãos , Linhagem , Receptores de Superfície Celular/sangue , Receptores de Superfície Celular/genética , República da Coreia , Estudos Retrospectivos , Transposição dos Grandes Vasos/genética , cis-trans-Isomerases/genética
5.
Graefes Arch Clin Exp Ophthalmol ; 258(2): 445-450, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31741045

RESUMO

PURPOSE: To describe characteristics of recurrent intermittent exotropia after bilateral lateral rectus (BLR) recession, and identify factors associated with poor outcome after unilateral medial rectus (MR) resection for recurrent intermittent exotropia. METHODS: We retrospectively reviewed 124 patients who have undergone unilateral MR resection for recurrent intermittent exotropia after BLR recession. Patients were followed for at least 2 years after MR resection. Clinical characteristics and risk factors associated with poor outcome after unilateral MR resection were evaluated. Successful outcome was defined as distant deviation within the range of 4 prism diopters (PD) esotropia and 10 PD exotropia at last visit after MR resection. RESULTS: Among 124 patients, 50 patients (41.1%) were male, and the mean age at the time of MR resection was 9.5 ± 3.1 years. The average follow-up period after MR resection was 43.8 ± 23.7 months. Forty-seven patients (37.9%) were classified to have poor outcome at last visit, and 29 patients (23.4%) underwent third operation. None of the patients was overcorrected after MR resection. Multiple logistic regression analyses showed that distant deviation at post-operative 3 months and male gender were associated with poor outcome (OR 1.49; 95% CI 1.27-1.73; P < 0.001, and OR 5.19; 95% CI 1.42-18.98; P = 0.013, respectively). CONCLUSION: Ocular deviation at 3 months after unilateral MR resection for recurrent intermittent exotropia may play a valuable role in anticipating poor outcome. Patients whose exotropia exceeded 9 PD at distance at 3 months' follow-up tended to recur while those whose exotropia remained below 9 PD at distance showed a stable disease course.


Assuntos
Exotropia/cirurgia , Movimentos Oculares/fisiologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/efeitos adversos , Complicações Pós-Operatórias , Refração Ocular/fisiologia , Criança , Pré-Escolar , Exotropia/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Músculos Oculomotores/fisiopatologia , Prognóstico , Estudos Retrospectivos
6.
Graefes Arch Clin Exp Ophthalmol ; 255(8): 1661-1668, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28616716

RESUMO

PURPOSE: To compare segmented retinal layer thicknesses between patients with idiopathic infantile nystagmus (IIN) and controls. METHODS: This retrospective case-control study included 66 patients with IIN and 66 age-matched controls. The retinal layers were examined using spectral domain optical coherence tomography with autosegmentation. Central foveal thickness (CFT), outer nuclear layer (ONL), and outer segment length (OSL) thickness were measured at the fovea center. Mean values for retinal nerve fiber layer, ganglion cell inner plexiform layer (GCIPL), inner nuclear layer, outer plexiform-outer nuclear layer (OPNL) thicknesses were calculated at two measurement points (nasal and temporal hump points at the macula area). RESULTS: There were no significant between-group differences in age, gender, or refraction error. The CFT was thicker in the IIN group compared with the control group (225.0 µm vs. 217.8 µm, P = 0.017) and OSL was shorter in IIN than in controls (40.0 µm vs. 43.7 µm., P < 0.001). The ONL thickness at the central fovea was not statistically different between the two groups. At the nasal and temporal position where the ganglion cell density was thickest, the GCIPL thickness was thinner in the IIN group compared to the controls (99.5 µm vs. 102.8 µm, P = 0.010). The GCIPL thickness was negatively correlated with logMAR visual acuity (Spearman's rho = -0.502, P < 0.001). CONCLUSIONS: The foveal pit was shallower, OSL was shorter, and the GCIPL thicknesses at macular humps were decreased in the patients with IIN compared with that of controls. The faulty development of the macula may be related to unknown pathophysiologic mechanism during fovea maturation in IIN or continuous eye movement itself interrupt fovea development.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Fibras Nervosas/patologia , Nistagmo Congênito/diagnóstico , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Campos Visuais , Adulto Jovem
7.
BMC Ophthalmol ; 17(1): 249, 2017 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-29237498

RESUMO

BACKGROUND: The authors report a case of a rare complication that occurred after botulinum toxin injection to the extraocular muscle, which was easily overlooked and successfully corrected by surgery. CASE PRESENTATION: A 34-year-old female patient visited our clinic for diplopia and ocular motility disorder after removal of an epidermoid tumor of the brain. At her initial visit, her best-corrected visual acuity (BCVA) was 20/20 for both eyes. An alternate cover test showed 45 prism-diopter esotropia and 3 prism-diopter hypertropia in the right eye. Following 6 months of observation, the deviation of the strabismus did not improve, and botulinum toxin was injected into the right medial rectus (RMR). After 6 days, she visited our clinic with decreased visual acuity of her right eye. The BCVA was found to be 20/50 for her right eye. Funduscopic examination presented a retinal tear inferonasal to the optic disc with preretinal hemorrhage. Subretinal fluid nasal to the fovea was seen on optical coherence tomography (OCT). Barrier laser photocoagulation was done around the retinal tear; however, her visual acuity continued to decrease, and vitreous hemorrhage and subretinal fluid at the lesion did not improve. In addition, a newly developed epiretinal membrane was seen on OCT. An alternate cover test presented 30 prism-diopter right esotropia. 19 weeks after RMR botulinum toxin injection, she received pars plana vitrectomy, membranectomy, endolaser barrier photocoagulation, and intravitreal bevacizumab (Avastin®) injection. After 4 months, her visual acuity improved to 20/20, and only 4 prism-diopter of right hypertropia and 3 prism-diopter of exotropia were noted. Vitreous opacity and the epiretinal membrane were completely removed, as confirmed by funduscopic and examination. CONCLUSIONS: Sudden loss of vision after injection of botulinum toxin into the extraocular muscle may suggest a serious complication, and a prompt, thorough ophthalmic examination should be performed. If improvements are not observed, rapid surgical intervention is recommended to prevent additional complications.


Assuntos
Toxinas Botulínicas/efeitos adversos , Neurotoxinas/efeitos adversos , Descolamento Retiniano/induzido quimicamente , Hemorragia Vítrea/induzido quimicamente , Adulto , Feminino , Humanos , Injeções Intramusculares/efeitos adversos , Injeções Intraoculares/efeitos adversos
8.
Retina ; 36(2): 311-20, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26352554

RESUMO

PURPOSE: To evaluate changes in aniseikonia in patients with unilateral epiretinal membrane after surgery. METHODS: This prospective study included 24 patients with unilateral idiopathic epiretinal membrane who underwent vitrectomy. Best-corrected visual acuity and aniseikonia were measured using the Aniseikonia Inspector 3 (Optical Diagnostics, Culemborg, The Netherlands) preoperatively and 6 months postoperatively. Aniseikonia was measured in vertical and horizontal directions. RESULTS: Mean age at surgery was 64.2 ± 9.3 years, and mean symptom duration was 12.9 ± 11.4 months. Mean changes in aniseikonia after surgery were 41.0 ± 31.4% reduction in the vertical direction and 41.6 ± 30.8% reduction in the horizontal direction (both P < 0.001). The remaining aniseikonia after surgery correlated with symptom duration (r = 0.565, P = 0.006, and r = 0.812, P < 0.001, for vertical and horizontal directions, respectively). The good preoperative best-corrected visual acuity group showed better improvement of aniseikonia than did the poor preoperative group (P = 0.046 and P = 0.025 for vertical and horizontal directions, respectively). CONCLUSION: Greater improvement of aniseikonia after epiretinal membrane peeling was achieved in patients with better preoperative best-corrected visual acuity and shorter symptom durations. Early vitrectomy helped to reduce aniseikonia in patients with epiretinal membrane.


Assuntos
Aniseiconia/fisiopatologia , Membrana Epirretiniana/fisiopatologia , Membrana Epirretiniana/cirurgia , Retina/fisiopatologia , Vitrectomia , Idoso , Percepção de Profundidade/fisiologia , Membrana Epirretiniana/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Inquéritos e Questionários , Tomografia de Coerência Óptica , Transtornos da Visão/fisiopatologia , Visão Binocular/fisiologia , Acuidade Visual/fisiologia
10.
J Neuroophthalmol ; 36(2): 182-6, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26828840

RESUMO

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegeneration with brain iron accumulation and characterized by extrapyramidal signs, vision loss, and intellectual decline. PKAN is caused by mutations in the PANK2 gene, which codes for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the coenzyme A biosynthetic pathway. Visual failure in this disorder is typically due to pigmentary retinopathy. Yet our patient, a 13-year-old girl with PKAN, developed bilateral optic atrophy and the appearance of the retina and electroretinography were normal. Optic atrophy is a rare finding in patients with PKAN. It is important for the clinician to consider PKAN in the differential diagnosis of patients presenting with signs of extrapyramidal dysfunction, cognitive decline, and vision loss because of optic atrophy.


Assuntos
Atrofia Óptica/etiologia , Neurodegeneração Associada a Pantotenato-Quinase/complicações , Acuidade Visual , Adolescente , Eletroencefalografia , Eletromiografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Atrofia Óptica/diagnóstico , Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico
11.
Graefes Arch Clin Exp Ophthalmol ; 253(1): 157-63, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25398657

RESUMO

PURPOSE: To investigate long-term strabismus surgical outcomes and visual prognosis in preadolescent ocular myasthenia gravis (OMG). METHODS: The medical records of all patients with preadolescent onset OMG who underwent strabismus surgery were reviewed. Thirteen patients met the study inclusion criteria. The main outcomes, including ocular alignment, number of surgeries, and visual acuity at final visit were evaluated. Outcomes were considered successful if there were ≤10 prism diopters (PD) residual horizontal and ≤4 PD residual vertical deviations at final recorded visit. RESULTS: Among 13 patients, diplopia presented in 11 patients (77.8%). Mean age at disease onset was 5.8 ± 2.7 years (range 1 ∼ 11), mean age at surgery was 20.5 ± 11.3 years (range, 2.5 to 36.6 years), and the time from disease onset to first operation was 14.8 ± 9.6 years (range, 1.5 to 29.6 years). The average length of postoperative follow-up was 4.7 ± 6.6 years (range, 0.5 to 18.9 years). Ocular deviation changed more than 15 PD during stable disease in six patients (46.2%). No patients underwent more than two surgeries. Successful results were achieved in nine patients (69.2%) at final recorded visit. CONCLUSIONS: In our series, nine patients (69.2%) with OMG could obtain good binocular alignment at final visit. Therefore, strabismus surgery can be considered in patients with preadolescent onset OMG who have constant angle of deviation despite medical treatment.


Assuntos
Miastenia Gravis/fisiopatologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Estrabismo/cirurgia , Visão Binocular/fisiologia , Acuidade Visual/fisiologia , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Miastenia Gravis/complicações , Estrabismo/etiologia , Adulto Jovem
12.
Graefes Arch Clin Exp Ophthalmol ; 253(12): 2293-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26344730

RESUMO

PURPOSE: The aim of the study was to evaluate longitudinal analysis of peripapillary retinal nerve fiber layer (RNFL) and perifoveal ganglion cell-inner plexiform layer (GCIPL) thickness in patients being treated with ethambutol (EMB). METHODS: This prospective longitudinal cohort study enrolled 37 patients who were treated with EMB for pulmonary tuberculosis. Best-corrected visual acuity, color vision test, automated perimetry, fundus photography, and RNFL and GCIPL thickness were measured at baseline and at 4 and 6 months after the start of EMB treatment, using Cirrus optical coherence tomography. RESULTS: Among 37 patients, EMB-induced optic neuropathy occurred in one patient (2.7 %). In this patient, thickening of the RFNL and thinning of the GCIPL were noted at the onset of symptoms. After discontinuation of EMB, RNFL and GCIPL thickness progressively normalized. Changes in RNFL and GCIPL thickness were not statistically significant in the 36 patients who did not exhibit EMB-induced optic neuropathy-related symptoms during follow-up (all P values > 0.05). CONCLUSIONS: Thickening of the peripapillary RNFL and thinning of the perifoveal GCIPL is an effective quantitative and early marker for diagnosis of EMB-induced optic neuropathy.


Assuntos
Antituberculosos/efeitos adversos , Etambutol/efeitos adversos , Fibras Nervosas/patologia , Doenças do Nervo Óptico/induzido quimicamente , Doenças do Nervo Óptico/diagnóstico , Células Ganglionares da Retina/patologia , Adulto , Idoso , Visão de Cores/fisiologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Tomografia de Coerência Óptica , Tuberculose Pulmonar/tratamento farmacológico , Acuidade Visual/fisiologia , Testes de Campo Visual
13.
BMC Ophthalmol ; 15: 54, 2015 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-26017119

RESUMO

BACKGROUND: Brimonidine is a highly selective α2 adrenergic agonist that has been widely used in anti-glaucoma eyedrops. The aim of this study was to investigate its putative anti-fibrotic role in the fibrosis caused by activated Tenon's fibroblasts. METHODS: Primary cultured human Tenon's fibroblasts were exposed to 2.0 ng/mL of transforming growth factor-ß1 (TGF-ß1) for up to 48 h. In the presence of various concentrations of brimonidine (from 0.0 to 10.0 µM), the expression levels of fibronectin, collagen types I and III, and ß-actin were determined by Western immunoblots. The expression of phosphorylated SMAD2/3 (p-SMAD2/3) was then evaluated using immunofluorescence. RESULTS: TGF-ß1 significantly increased the synthesis of fibronectin and collagens in human Tenon's fibroblasts; however brimonidine treatment distinctly attenuated the TGF-ß1-induced production of extracellular matrix (ECM) proteins. TGF-ß1 also changed the cellular morphology to be plump, while brimonidine treatment returned the cells to a spindle shape, similar to control fibroblasts. Regarding p-SMAD2/3, brimonidine treatment did not show any apparent changes in its expression. CONCLUSIONS: Our data revealed that brimonidine reduces TGF-ß-induced ECM synthesis in human Tenon's fibroblasts in vitro. This finding implies that topical administration of brimonidine may be helpful in reducing the fibrosis caused by the long-term use of topical anti-glaucoma medications.


Assuntos
Agonistas de Receptores Adrenérgicos alfa 2/farmacologia , Tartarato de Brimonidina/farmacologia , Proteínas da Matriz Extracelular/metabolismo , Fibroblastos/efeitos dos fármacos , Cápsula de Tenon/citologia , Fator de Crescimento Transformador beta1/farmacologia , Actinas/metabolismo , Western Blotting , Células Cultivadas , Colágeno Tipo I/metabolismo , Colágeno Tipo III/metabolismo , Fibroblastos/metabolismo , Fibroblastos/patologia , Fibronectinas , Fibrose , Humanos
14.
Korean J Ophthalmol ; 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38956746

RESUMO

Purpose: Strabismus in patients with craniosynostosis is common, but surgical correction of strabismus in these patients remains challenging. We report our findings in 6 patients (4 of whom were Korean) with craniosynostosis who underwent strabismus surgery to specifically address V-pattern horizontal strabismus with moderate-to-severe inferior oblique (IO) overaction, using IO myectomy at a single tertiary hospital between 2005 and 2016. Materials and. Methods: We recorded preoperative characteristics including sex, age, type of strabismus, versions grading, refractive error, and visual acuity. The grading of cyclorotation of horizontal rectus muscles by V-pattern categorized using coronal computed tomography (CT) imaging. Results: Of the six patients, exodeviation was found in four patients and vertical deviation in two patients in primary position. One patient had both horizontal and vertical strabismus. Available computed tomography imaging showed that V-patterns were category 1 (mild) in 2 patients, category 2 (moderate) in 1 patient, and category 3 (severe) in 2 patients. Complete success was defined as absence of IO overaction any more. Overall complete success rate of IO myectomy was 83.3 %. Conclusion: IO myectomy appeared to have some benefits in V-pattern horizontal strabismus with moderate-to-severe inferior oblique (IO) overaction in patients with craniosynostosis.

15.
Sci Rep ; 13(1): 7200, 2023 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-37137972

RESUMO

Although several studies have reported about the relationship between the surgical correction of intermittent exotropia and myopic progression, it remains unclear, unlike the relationship between esotropia and hyperopia. Thus, this retrospective case control study evaluated the impact of bilateral lateral rectus recession in intermittent exotropia on myopic progression. This study included 388 patients with intermittent exotropia. The refractive errors and degree of exodeviation at each follow up period were analyzed. The rate of myopic progression was -0.46 ± 0.62 diopter (D)/year in patients who underwent surgery and -0.58 ± 0.78 D/year in patients who did not, with no significant difference between them (p = 0.254). Patients who had recurrences of more than 10 prism diopters were compared with patients who did not have. The rate of myopic progression was -0.57 ± 0.72 D/year in the recurrent group and -0.44 ± 0.61 D/year in the non-recurrent group, with no significant difference between them (p = 0.237). Patients with fast myopic progression had more recurrence than patients with slow progression (p = 0.042). Moreover, recurrence had a positive correlation with fast myopic progression (OR = 2.537, p = 0.021). Conclusively, the surgical correction of intermittent exotropia did not influence myopic progression.


Assuntos
Exotropia , Miopia , Humanos , Criança , Exotropia/cirurgia , Estudos Retrospectivos , Estudos de Casos e Controles , Resultado do Tratamento , Seguimentos , Procedimentos Cirúrgicos Oftalmológicos , Músculos Oculomotores/cirurgia , Doença Crônica , Miopia/cirurgia , Visão Binocular/fisiologia
16.
Ophthalmic Genet ; 44(3): 286-290, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-35946466

RESUMO

BACKGROUND: Single-stranded DNA-binding protein 1 (SSBP1) plays an essential role in mitochondrial DNA (mtDNA) replication and maintenance, as well as development of retina. Here, we describe the clinical findings and genetic basis of a family with two members affected with bilateral optic atrophy. MATERIALS AND METHODS: Clinical data were retrospectively collected from an electronic medical record system. Genetic results were obtained using exome sequencing (ES) and genome sequencing (GS). RESULTS: A 36-year-old man presented with low vision in both eyes since early childhood, with a best-corrected visual acuity of 20/500 in both eyes. He exhibited generalized optic atrophy and diffuse retinal nerve fiber layer thinning without retinal degeneration in both eyes. The family history was consistent with autosomal dominant traits. ES was performed; however, we did not identify any pathogenic variants in the known dominant optic atrophy genes. Subsequently, GS was performed, and it revealed a novel heterozygous c.364A>G p.(Lys122Glu) variant in SSBP1. In silico prediction supported it as deleterious, while segregation analysis detected it in his affected mother and his unaffected sister. No foveopathy or retinal degeneration was observed in the patient's family members. CONCLUSIONS: We report a novel pathogenic heterozygous SSBP1 variant in a family with autosomal dominant optic atrophy and incomplete penetrance. Furthermore, we demonstrated that GS is advantageous over ES even for the discovery of coding variants, providing uniform coverage. Therefore, GS should be emphasized to improve the molecular diagnostic rate of inherited optic neuropathy.


Assuntos
Atrofia Óptica Autossômica Dominante , Atrofia Óptica , Degeneração Retiniana , Pré-Escolar , Masculino , Humanos , Adulto , Degeneração Retiniana/diagnóstico , Degeneração Retiniana/genética , Sequenciamento do Exoma , Estudos Retrospectivos , Atrofia Óptica Autossômica Dominante/patologia , Proteínas de Ligação a DNA/genética , Atrofia Óptica/genética , DNA Mitocondrial/genética , Proteínas Mitocondriais/genética
17.
Sci Rep ; 13(1): 1329, 2023 01 24.
Artigo em Inglês | MEDLINE | ID: mdl-36693891

RESUMO

The Korean Intermittent Exotropia Multicenter Study (KIEMS) was a retrospective, cross-sectional and multicenter study for the investigation of intermittent exotropia involved 65 strabismus specialists from 53 institutions in Korea. Purpose of this study was to present ophthalmologic findings of intermittent exotropia from the KIEMS. Consecutive patients with intermittent exotropia of ≥ 8 prism diopters (PD) at distance or near fixation were included. Best-corrected visual acuity, cycloplegic refraction data, angles of deviation at several cardinal positions, ocular dominance, fusion control, oblique muscle function, and binocular sensory outcomes were collected. A total of 5385 participants (2793 females; age 8.2 years) were included. Non-dominant eye was more myopic than the dominant eye (- 0.60 vs. - 0.47 diopters, P < 0.001). Mean exodeviation angles were 23.5 PD at distance and 25.0 PD at near fixation. Basic type (86.2%) was the most, followed by convergence insufficiency (9.4%) and divergence excess (4.4%) types. Alternating ocular dominance and good fusion control were more common at near than at distance fixation. Good stereopsis at 40 cm was observed in 49.3% in Titmus stereo test (≤ 60 arcsec) and in 71.0% in Randot stereo test (≤ 63 arcsec). Intermittent exotropia was mostly diagnosed in childhood and patients with the condition showed relatively good binocular functions. This study may provide objective findings of intermittent exotropia in a most reliable way, given that the study included a large study population and investigated comprehensive ophthalmology examinations.


Assuntos
Exotropia , Oftalmologia , Feminino , Humanos , Criança , Exotropia/cirurgia , Estudos Transversais , Estudos Retrospectivos , População do Leste Asiático , Procedimentos Cirúrgicos Oftalmológicos , Visão Binocular/fisiologia
18.
Invest Ophthalmol Vis Sci ; 64(14): 37, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-38010696

RESUMO

Purpose: To evaluate the association of COVID-19 infection and vaccination with neuro-ophthalmic adverse events. Methods: In this nationwide population-based retrospective cohort study, 8,498,353 patients were classified into three groups: control, COVID-19 infection, and COVID-19 vaccination. We conducted separate analyses for the early phase (within 60 days) and late phases (61-180 days) to estimate the incidence rates and hazard ratio (HR) for each neuro-ophthalmic adverse event. The adverse events included in this analysis were optic neuritis, papilledema, ischemic optic neuropathy, third nerve palsy, fourth nerve palsy, sixth nerve palsy, facial palsy, nystagmus, ptosis, blepharospasm, anomalies of pupillary function, and Guillain-Barré syndrome/Miller Fisher syndrome (GBS/MFS). Results: Neuro-ophthalmic adverse events other than ptosis and GBS/MFS exhibited no significant increase after COVID-19, and their incidence was extremely low. The incidence rate of ptosis in both phases was significantly higher in patients administered COVID-19 vaccination (HR = 1.65 in the early phase and HR = 2.02 in the late phase) than in the control group. Additionally, BNT162b2 conferred a lower ptosis risk than ChAdOx1. GBS/MFS had a significantly higher incidence rate in the early phase (HR = 5.97) in patients with COVID-19 infection than in the control group. Conclusions: Ptosis was associated with COVID-19 vaccination, particularly with the ChAdOx1 vaccine, while GBS/MFS was associated with COVID-19 infection. In contrast, no association was found between other neuro-ophthalmic adverse events and COVID-19 infection or vaccination. These results may provide helpful insights for diagnosing and treating the neuro-ophthalmological adverse events after COVID-19.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Vacinas , Humanos , Vacina BNT162 , Estudos de Coortes , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Estudos Retrospectivos
19.
BMC Ophthalmol ; 12: 49, 2012 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-22967132

RESUMO

BACKGROUND: Heat shock protein 47 (Hsp47) is a well-known molecular chaperone in collagen synthesis and maturation. The aim of this study is to investigate its putative role in the transdifferentiation of Tenon's fibroblasts to myofibroblasts. METHODS: Primary cultured human Tenon's fibroblasts were exposed to transforming growth factor-ß1 (TGF-ß1) for up to 48 hours. The mRNA levels of Hsp47 and α smooth muscle actin (αSMA) were determined by quantitative real time RT-PCR. After delivery of small interfering RNA (siRNA) molecules targeting Hsp47 into the cells, the expression of Hsp47 and αSMA proteins was determined by western immunoblotting. RESULTS: TGF-ß1 increased the mRNA expressions of both Hsp47 and αSMA in human Tenon's fibroblasts, as determined by quantitative real time RT-PCR. However, it induced the protein expression of only αSMA but not Hsp47, as determined by western immunoblots. When siRNAs specific for Hsp47 were introduced into those cells, the TGF-ß1-induced expression of αSMA was significantly attenuated on western immunoblots; after 48 hours of exposure to TGF-ß1, the relative densities of immunobands were 11.58 for the TGF-ß1 only group and 2.75 for the siRNA treatment group, compared with the no treatment control group (p < 0.001). CONCLUSIONS: Our data suggest that Hsp47 may be related to the TGF-ß1-induced transdifferentiation of human Tenon's fibroblasts to myofibroblasts.


Assuntos
Transdiferenciação Celular/fisiologia , Fibroblastos/citologia , Regulação da Expressão Gênica , Proteínas de Choque Térmico HSP47/fisiologia , Miofibroblastos/citologia , RNA Mensageiro/genética , Western Blotting , Células Cultivadas , Fibroblastos/metabolismo , Humanos , Miofibroblastos/metabolismo , Reação em Cadeia da Polimerase em Tempo Real
20.
J Ocul Pharmacol Ther ; 38(10): 703-708, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36269657

RESUMO

Purpose: To evaluate the longitudinal changes of axial length (AL) and factors associated with AL growth in myopic children receiving 0.05% atropine. Methods: This single-center retrospective study included children aged 4-13 years with myopia of at least -0.5 diopters (D) treated with 0.05% atropine eye drops from November 2016 to May 2021. Predictive factors for AL change were evaluated using linear mixed models. Results: Among 109 patients (218 eyes), 58 (53.2%) were male and the mean age at treatment was 8.5 ± 2.0 years. At baseline measurement, the mean spherical equivalent was -4.05 ± 2.34 diopters (D), and AL was 25.00 ± 0.97 mm. The mean follow-up duration was 25.4 (12-58) months, and the mean AL elongation was 0.23 ± 0.17 mm/year during the follow-up periods. AL shortening of ≥0.05 mm at subsequent visit occurred in 18 patients (26 eyes). The mean AL change in the group without initial AL shortening was statistically larger than that in the group with initial AL shortening (0.26 ± 0.16 mm/year vs. 0.02 ± 0.17 mm/year, P < 0.001). In linear mixed model, the age at atropine treatment and initial AL shortening were significantly associated with respect to AL growth (beta coefficient: -0.032 and -0.122, respectively, P < 0.001 for both). Conclusions: Our study found that older age and initial AL shortening are predictors of favorable response after 0.05% atropine treatment. Children with AL shortening at initial subsequent visit may be associated with good long-term response, and younger children may require higher concentration of atropine for optimal response.


Assuntos
Atropina , Criança , Feminino , Humanos , Masculino , Atropina/uso terapêutico , Estudos Retrospectivos
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