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1.
BMC Pediatr ; 24(1): 301, 2024 May 04.
Artículo en Inglés | MEDLINE | ID: mdl-38704544

RESUMEN

BACKGROUND: We present a patient with retinopathy of prematurity (ROP) who developed worsening plus disease after complete regression of stage 3 ROP. The use of fundus fluorescein angiography (FFA) aided the visualization of occult neovascularization that caused the disease progression. CASE PRESENTATION: The patient was at high risk for ROP due to low birth weight of 690 g and gestational age of 25 weeks. After the diagnosis of stage 3 ROP in zone I without plus disease, she was treated initially with bilateral intravitreal bevacizumab (IVB) and followed by laser photocoagulation 5 weeks later. Despite the resolution of ROP stage, the plus disease worsened. Neither systemic risk factors nor skip laser areas were observed. Hence, FFA was performed and subsequently identified occult neovascularization with active leakage. Additional IVB and laser treatment in the capillary dropout area inside vascularized retina were added. The plus disease improved but mild arteriolar tortuosity persisted. CONCLUSIONS: Worsening of plus disease after completion of laser ablation and IVB with complete regression of stage 3 ROP is rare. Systemic risk factors such as continuous oxygen therapy and cardiovascular disease should be ruled out. FFA aided in identifying occult neovascularization and prompted further treatment.


Asunto(s)
Inhibidores de la Angiogénesis , Bevacizumab , Angiografía con Fluoresceína , Inyecciones Intravítreas , Coagulación con Láser , Neovascularización Retiniana , Retinopatía de la Prematuridad , Humanos , Bevacizumab/uso terapéutico , Bevacizumab/administración & dosificación , Recién Nacido , Inhibidores de la Angiogénesis/uso terapéutico , Inhibidores de la Angiogénesis/administración & dosificación , Femenino , Coagulación con Láser/métodos , Neovascularización Retiniana/etiología , Neovascularización Retiniana/tratamiento farmacológico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Anticuerpos Monoclonales Humanizados/administración & dosificación , Terapia Combinada
2.
Indian J Ophthalmol ; 72(Suppl 3): S514-S520, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38648461

RESUMEN

PURPOSE: To develop prediction models for severe retinopathy of prematurity (ROP) based on risk factors in preterm Thai infants to reduce unnecessary eye examinations in low-risk infants. METHODS: This retrospective cohort study included preterm infants screened for ROP in a tertiary hospital in Bangkok, Thailand, between September 2009 and December 2020. A predictive score model and a risk factor-based algorithm were developed based on the risk factors identified by a multivariate logistic regression analysis. Validity scores, and corresponding 95% confidence intervals (CIs), were reported. RESULTS: The mean gestational age and birth weight (standard deviation) of 845 enrolled infants were 30.3 (2.6) weeks and 1264.9 (398.1) g, respectively. The prevalence of ROP was 26.2%. Independent risk factors across models included gestational age, birth weight, no antenatal steroid use, postnatal steroid use, duration of oxygen supplementation, and weight gain during the first 4 weeks of life. The predictive score had a sensitivity (95% CI) of 92.2% (83.0, 96.6), negative predictive value (NPV) of 99.2% (98.1, 99.6), and negative likelihood ratio (NLR) of 0.1. The risk factor-based algorithm revealed a sensitivity of 100% (94, 100), NPV of 100% (99, 100), and NLR of 0. Similar validity was observed when "any oxygen supplementation" replaced "duration of oxygen supplementation." Predictive score, unmodified, and modified algorithms reduced eye examinations by 71%, 43%, and 16%, respectively. CONCLUSIONS: Our risk factor-based algorithm offered an efficient approach to reducing unnecessary eye examinations while maintaining the safety of infants at risk of severe ROP. Prospective validation of the model is required.


Asunto(s)
Edad Gestacional , Recien Nacido Prematuro , Retinopatía de la Prematuridad , Humanos , Retinopatía de la Prematuridad/diagnóstico , Retinopatía de la Prematuridad/epidemiología , Estudios Retrospectivos , Recién Nacido , Factores de Riesgo , Masculino , Tailandia/epidemiología , Femenino , Peso al Nacer , Medición de Riesgo/métodos , Algoritmos , Prevalencia , Tamizaje Neonatal/métodos , Valor Predictivo de las Pruebas , Pueblos del Sudeste Asiático
3.
Jpn J Ophthalmol ; 67(4): 387-395, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37341847

RESUMEN

PURPOSE: To validate Postnatal Growth and Retinopathy of Prematurity (G-ROP) criteria for Thai infants. STUDY DESIGN: A retrospective review of infants receiving ROP screening during 2009-2020. METHODS: Baseline characteristics, clinical progression and final ROP outcomes were collected. G-ROP was applied to infants who met at least one of the following 6 criteria: birth weight (BW) below 1051 g, gestational age (GA) under 28 weeks, weight gain (WG) less than 120 g during postnatal day 10-19, WG less than 180 g during day 20-29, WG less than 170 g during day 30-39 and hydrocephalus. RESULTS: A total of 684 infants (boys, 53.4%) were included. Median (IQR) BW was 1200 (960-1470) grams and median GA was 30 (28-32) weeks. Prevalence of ROP was 26.6%, with 28 (4.1%) having type 1, 19 (2.8%) type 2 and, 135 (19.7%) having other ROP. Treatment was performed in 26 infants (3.8%). Sensitivity of G-ROP to include type 1, 2 or treatment-requiring ROP cases was 100% with 36.9% specificity, excluding 235 (34.4%) cases of unnecessary screening. To adjust for our setting of initial eye examination at 4 weeks' postnatal date, the last 2 criteria of G-ROP were replaced by the occurrence of grade 3 or 4 intraventricular hemorrhage (IVH). This modified G-ROP criteria yielded 100% sensitivity, 42.5% specificity and excluded 271 (39.6%) cases of unnecessary screening. CONCLUSION: G-ROP criteria can be applied to our hospital setting. Occurrence of IVH grade 3 or 4 was proposed as an alternative in modified G-ROP criteria.


Asunto(s)
Desarrollo Infantil , Tamizaje Masivo , Retinopatía de la Prematuridad , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Peso al Nacer , Hemorragia Cerebral Intraventricular , Edad Gestacional , Crecimiento , Hidrocefalia , Recien Nacido Extremadamente Prematuro/crecimiento & desarrollo , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso/crecimiento & desarrollo , Tamizaje Masivo/métodos , Retinopatía de la Prematuridad/diagnóstico , Estudios Retrospectivos , Factores de Riesgo , Pueblos del Sudeste Asiático , Tailandia , Aumento de Peso , Selección de Paciente
4.
Sci Rep ; 12(1): 21494, 2022 12 13.
Artículo en Inglés | MEDLINE | ID: mdl-36513702

RESUMEN

Retinitis pigmentosa (RP) affects 1:5000 individuals worldwide. Interestingly, variations in 271 RP-related genes are indicated to vary among populations. We aimed to evaluate the genetic prevalence and phenotypic profiles of Thai patients with RP. The clinical and whole exome sequencing data of 125 patients suggestive of inherited retinal diseases (IRD), particularly non-syndromic RP, were assessed. We found a total of 258 variants (63% of which remained unavailable in the ClinVar database) in 91 IRD-associated genes. Among the detected genes, the eyes shut homolog (EYS) gene showed the highest prevalence. We also provide insights into the genotypic, baseline, and follow-up clinical presentations of seven patients with disease-causing EYS variations. This study could provide comprehension of the prevalence of RP-related genes involved in the Asian population. It might also provide information to establish advanced and personalised therapy for RP in the Thai population.


Asunto(s)
Enfermedades de la Retina , Retinitis Pigmentosa , Humanos , Estudios Retrospectivos , Proteínas del Ojo/genética , Mutación , Retinitis Pigmentosa/genética , Secuenciación del Exoma , Linaje , Análisis Mutacional de ADN
5.
Stem Cell Res ; 65: 102964, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36395688

RESUMEN

Choroideremia (CHM) is a monogenic, X-linked inherited retinal disease caused by mutations in the CHM gene. CHM patients develop progressive loss of vision due to degeneration of cell layers in the retina. In this report, the human-induced pluripotent stem cell, MUi032-A, was generated from CD34+ hematopoietic stem/progenitor cells of a male CHM patient by co-electroporation of non-integration episomal vectors containing OCT4/shp53, Sox-2/KLF4, and L-MYC/LIN-28. The MUi032-A showed normal karyotype and a hemizygous c.715C > T mutation. They expressed pluripotency markers and differentiated into cells derived from three germ layers. This cell line may be useful for disease mechanisms and gene therapy studies.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales , Coroideremia , Hemicigoto , Células Madre Pluripotentes Inducidas , Humanos , Masculino , Proteínas Adaptadoras Transductoras de Señales/genética , Mutación/genética , Coroideremia/genética , Coroideremia/patología , Línea Celular
6.
BMJ Open Ophthalmol ; 7(1)2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-36161842

RESUMEN

OBJECTIVE: To study the effect of additional training with ophthalmic surgical simulation on the intraoperative complication rates of phacoemulsification performed by residents. METHODS AND MATERIALS: This was a retrospective study of phacoemulsification surgeries performed by third-year residents at Siriraj Hospital. The operations were classified into two groups according to the experience of the surgeon in simulation training, that is, trained vs untrained. The main outcome was the total rate of complications. Other outcomes, including posterior capsule rupture, anterior capsulorhexis tearing, zonular dehiscence, retaining of lens material and intraocular lens (IOL) implantation methods, were also analysed. RESULTS: In total, 2971 operations were performed, comprising 1656 operations by 21 residents in the trained group, and 1315 by 20 residents in the untrained group. The total rate of complications in the simulator-trained group was lower than in the untrained group (13.6% vs 17.3%, p=0.005). Only the rate of retaining lens material showed a statistically significantly reduction (p<0.001); however, the rates of posterior capsule rupture, anterior capsulorhexis tearing and zonular dehiscence were not significantly different (p=0.08, 0.17, 0.23, respectively). The IOL implantation methods and surgical aphakia rate between the two groups were similar (p=0.44). In the subgroup analysis, the posterior capsule rupture rate in the first half of all cases performed by the residents was lower in the trained group (8.8% vs 12.4%, p=0.02). CONCLUSION: Ophthalmic simulation training reduces the total rate of complications of resident-performed phacoemulsification. It also shortens the learning curve for cataract surgery training, as indicated by the decreased posterior capsule rupture rate in the initial cases of cataract surgery.


Asunto(s)
Catarata , Facoemulsificación , Entrenamiento Simulado , Catarata/complicaciones , Humanos , Implantación de Lentes Intraoculares/efectos adversos , Facoemulsificación/efectos adversos , Estudios Retrospectivos , Rotura/complicaciones , Entrenamiento Simulado/métodos
7.
Transl Vis Sci Technol ; 10(13): 17, 2021 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-34767624

RESUMEN

Purpose: To evaluate the clinical performance of an automated diabetic retinopathy (DR) screening model to detect referable cases at Siriraj Hospital, Bangkok, Thailand. Methods: A retrospective review of two sets of fundus photographs (Eidon and Nidek) was undertaken. The images were classified by DR staging prior to the development of a DR screening model. In a prospective cross-sectional enrollment of patients with diabetes, automated detection of referable DR was compared with the results of the gold standard, a dilated fundus examination. Results: The study analyzed 2533 Nidek fundus images and 1989 Eidon images. The sensitivities calculated for the Nidek and Eidon images were 0.93 and 0.88 and the specificities were 0.91 and 0.85, respectively. In a clinical verification phase using 982 Nidek and 674 Eidon photographs, the calculated sensitivities and specificities were 0.86 and 0.92 for Nidek along with 0.92 and 0.84 for Eidon, respectively. The 60°-field images from the Eidon yielded a more desirable performance in differentiating referable DR than did the corresponding images from the Nidek. Conclusions: A conventional fundus examination requires intense healthcare resources. It is time consuming and possibly leads to unavoidable human errors. The deep learning algorithm for the detection of referable DR exhibited a favorable performance and is a promising alternative for DR screening. However, variations in the color and pixels of photographs can cause differences in sensitivity and specificity. The image angle and poor quality of fundus photographs were the main limitations of the automated method. Translational Relevance: The deep learning algorithm, developed from basic research of image processing, was applied to detect referable DR in a real-word clinical care setting.


Asunto(s)
Aprendizaje Profundo , Diabetes Mellitus , Retinopatía Diabética , Algoritmos , Estudios Transversales , Retinopatía Diabética/diagnóstico por imagen , Humanos , Estudios Prospectivos , Estudios Retrospectivos , Tailandia
8.
Front Genet ; 12: 728085, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34659350

RESUMEN

X-linked retinitis pigmentosa (XLRP), a rare form of retinitis pigmentosa (RP), is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Affected males often present with severe phenotypes and early disease onset. In contrast, female carriers are usually asymptomatic or show stationary phenotypes. Herein, we reported an 8-year-old female carrier, a daughter of a confirmed RP father with RPGR mutation, with an early onset of progressive cone-rod pattern retinal dystrophy. Additionally, the carrier experienced visual snow-like symptom as long as she recalled. Ophthalmological examination showed the reduction of visual acuity and attenuation of photoreceptor functions since the age of 5 years. Further analysis revealed a heterozygous pathogenic variant of the RPGR gene and a random X-inactivation pattern. Although she harboured an identical RPGR variant as the father, there were phenotypic intrafamilial variations. The information on the variety of genotypic and phenotypic presentations in XLRP carriers is essential for further diagnosis, management, and monitoring of these cases, including the design of future gene therapy trials.

9.
Sci Rep ; 11(1): 15047, 2021 07 22.
Artículo en Inglés | MEDLINE | ID: mdl-34294798

RESUMEN

Autoimmune retinopathy (AIR) is a rare immune-mediated inflammation of the retina. The autoantibodies against retinal proteins and glycolytic enzymes were reported to be involved in the pathogenesis. This retrospective cohort study assessed the antiretinal autoantibody profiles and their association with clinical outcomes of AIR patients in Thailand. We included 44 patients, 75% were females, with the overall median age of onset of 48 (17-74, IQR 40-55.5) years. Common clinical presentations were nyctalopia (65.9%), blurred vision (52.3%), constricted visual field (43.2%), and nonrecordable electroretinography (65.9%). Underlying malignancy and autoimmune diseases were found in 2 and 12 female patients, respectively. We found 41 autoantibodies, with anti-α-enolase (65.9%) showing the highest prevalence, followed by anti-CAII (43.2%), anti-aldolase (40.9%), and anti-GAPDH (36.4%). Anti-aldolase was associated with male gender (P = 0.012, OR 7.11, 95% CI 1.54-32.91). Anti-CAII showed significant association with age of onset (P = 0.025, 95% CI - 17.28 to - 1.24), while anti-α-enolase (P = 0.002, OR 4.37, 95% CI 1.83-10.37) and anti-GAPDH (P = 0.001, OR 1.87, 95% CI 1.32-2.64) were significantly associated with nonrecordable electroretinography. Association between the antibody profiles and clinical outcomes may be used to direct and adjust the treatment plans and provide insights in the pathogenesis of AIR.


Asunto(s)
Autoanticuerpos/inmunología , Enfermedades Autoinmunes/epidemiología , Enfermedades Autoinmunes/inmunología , Autoinmunidad , Susceptibilidad a Enfermedades , Enfermedades de la Retina/epidemiología , Enfermedades de la Retina/inmunología , Adolescente , Adulto , Anciano , Autoanticuerpos/sangre , Autoantígenos/inmunología , Enfermedades Autoinmunes/diagnóstico , Biomarcadores , Susceptibilidad a Enfermedades/inmunología , Electrorretinografía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Retina/inmunología , Enfermedades de la Retina/diagnóstico , Estudios Retrospectivos , Adulto Joven
10.
Stem Cell Res Ther ; 12(1): 52, 2021 01 09.
Artículo en Inglés | MEDLINE | ID: mdl-33422139

RESUMEN

BACKGROUND: Retinitis pigmentosa (RP) is a progressive inherited retinal disease with great interest for finding effective treatment modalities. Stem cell-based therapy is one of the promising candidates. We aimed to investigate the safety, feasibility, and short-term efficacy of intravitreal injection of bone marrow-derived mesenchymal stem cells (BM-MSCs) in participants with advanced stage RP. METHODS: This non-randomized phase I clinical trial enrolled 14 participants, categorized into three groups based on a single dose intravitreal BM-MSC injection of 1 × 106, 5 × 106, or 1 × 107 cells. We evaluated signs of inflammation and other adverse events (AEs). We also assessed the best corrected visual acuity (BCVA), visual field (VF), central subfield thickness (CST), and subjective experiences. RESULTS: During the 12-month period, we noticed several mild and transient AEs. Interestingly, we found statistically significant improvements in the BCVA compared to baseline, although they returned to the baseline at 12 months. The VF and CST were stable, indicating no remarkable disease progression. We followed 12 participants beyond the study period, ranging from 1.5 to 7 years, and observed one severe but manageable AE at year 3. CONCLUSION: Intravitreal injection of BM-MSCs appears to be safe and potentially effective. All adverse events during the 12-month period required observation without any intervention. For the long-term follow-up, only one participant needed surgical treatment for a serious adverse event and the vision was restored. An enrollment of larger number of participants with less advanced RP and long-term follow-up is required to evaluate the safety and efficacy of this intervention. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01531348 . Registered on February 10, 2012.


Asunto(s)
Trasplante de Células Madre Mesenquimatosas , Células Madre Mesenquimatosas , Retinitis Pigmentosa , Humanos , Inyecciones Intravítreas , Trasplante de Células Madre Mesenquimatosas/efectos adversos , Retina , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/terapia , Trasplante Autólogo
11.
Int Ophthalmol ; 41(1): 121-134, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32869108

RESUMEN

PURPOSE: Achromatopsia (ACHM) is an autosomal recessive cone disorder characterized by pendular nystagmus, photophobia, reduced visual acuity, and partial or total absence of color vision. Mutations in six genes (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6) have been reported in ACHM. There is no information on these disease-associated genes in Thai population. This study aimed to investigate the molecular and clinical characteristics in Thai patients with ACHM. METHODS: Seven unrelated Thai patients with ACHM were recruited. Detailed ophthalmologic examination was performed. Polymerase chain reaction (PCR)-coupled single-strand conformation polymorphism (SSCP) screening followed by Sanger sequencing was used to identify sequence variants in all exons and splice junctions of three genes (CNGA3, CNGB3, and GNAT2). The pathogenicity of the detected variants was interpreted. Segregation analysis was performed to determine variant sharing in available family members. RESULTS: Four patients displayed different SSCP migration patterns. Sequence analysis revealed a reported pathogenic and a novel disease-associated variant in the CNGA3 gene. For the CNGB3 gene, we found two novel disease-associated variants and a reported variant of uncertain significance (VUS). Segregation analysis confirmed that the variants identified in each patient were present in the heterozygous state in their corresponding family members, which was consistent with an autosomal recessive mode of inheritance. CONCLUSIONS: This study demonstrated the first molecular and clinical characterization of ACHM in Thai patients. The identification of disease-associated genes in a specific population leads to a personalized gene therapy benefiting those affected patients.


Asunto(s)
Defectos de la Visión Cromática , Defectos de la Visión Cromática/diagnóstico , Defectos de la Visión Cromática/genética , Canales Catiónicos Regulados por Nucleótidos Cíclicos/genética , Análisis Mutacional de ADN , Electrorretinografía , Humanos , Mutación , Tailandia
12.
Invest Ophthalmol Vis Sci ; 58(4): 2413-2420, 2017 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-28453600

RESUMEN

Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Potentially causative variants were filtered through a bioinformatics pipeline and validated using Sanger sequencing. Segregation analysis of the causative genes was performed in family members when available. Results: Eleven deleterious variants, six nonsense and five missense, were identified in seven genes: four LCA-associated genes (CEP290, IQCB1, NMNAT1, and RPGRIP1), one gene responsible for syndromic LCA (ALMS1), and two IRDs-related genes (CTNNA1 and CYP4V2). Clinical reassessment supported the diagnosis of syndromic LCA in those patients harboring potentially pathogenic variants in the ALMS1. Interestingly, two causative genes, CTNNA1 and CYP4V2, previously reported to cause butterfly-shaped pigment dystrophy (BSPD) and Bietti's crystalline dystrophy (BCD), respectively, were detected in two other patients. These two patients developed rapid and severe visual loss in contrast to BSPD and BCD patients in previous studies. The results of this study demonstrate that causative variants identified in the CTNNA1 and CYP4V2 genes are also associated with LCA. Conclusions: This is the first report describing the molecular genetics and clinical manifestations of Thai patients with LCA. The present study expands the spectrum of LCA-associated genes, which is a benefit for molecular diagnosis. The identification of mutations in the CTNNA1 and CYP4V2 genes requires further elucidation in larger cohorts with LCA.


Asunto(s)
Pueblo Asiatico/genética , Familia 4 del Citocromo P450/genética , Predisposición Genética a la Enfermedad , Amaurosis Congénita de Leber/genética , Mutación , alfa Catenina/genética , Niño , Preescolar , Codón sin Sentido , Análisis Mutacional de ADN , Exoma , Femenino , Humanos , Lactante , Masculino , Mutación Missense , Tailandia
13.
J Med Assoc Thai ; 97(9): 947-53, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25536712

RESUMEN

OBJECTIVE: To examine subfoveal choroidal thickness (SFCT) in Thai population using enhanced depth imaging spectral- domain optical coherence tomography (EDI-OCT) and to study its correlation with foveal retinal pigment epithelium thickness (FRPE), central neurosensory retinal thickness (CNRT), age, and refraction. MATERIAL AND METHOD: Four hundred eighty eyes from 240 subjects without glaucoma, retinal, or choroidal diseases underwent scanning of the retina and choroid using EDI-OCT SFCT FRPE, and CNRT measurements were based on the 1:1 micron images and wereperformed by two independent observers. The reliability ofmeasurements between the observers was evaluated by intraclass correlation coefficient (ICC). The correlations of SFCT with FRPE, CNRT, age, and refractive error were analyzed RESULTS: The mean age of the subjects was 36.22 years (range 20-81years). The means (95% reference intervals) of SFCT, CNRT andFRPE were 294.02 µm (137.14-450.90 µm), 174.22 µm (141.82-206.62 µm), and 41.94 µm (34.65-49.23 µm), respectively. SFCT and CNRThad excellent reliability between the two observers [ICC = 0.947 (95% CI, 0.918-0.963) and 0.929 (95% CI, 0.906-0.945), respectively], while FRPE showed good reliability [ICC = 0. 729 (95% CI, 0.637-0.793)]. SFCT had a low positive correlation with FRPE (r = 0.179, p<0. 0001) but not with CNRT (p = 0.317). SFCT showed a positive correlation with refraction (r = 0.338, p<0.0001) and a negative correlation with age (r = -0.166, p<0.0001). Regression analysis suggested that the SFCT decreased by 12.23 pm per one decade oflife and by 11.42 pm per one diopter of myopia. CONCLUSION: Normal values of SFCT in Thai population were obtained SFCT significantly decreased with older age and higher myopia. SFCT was associated with FRPE, reflecting the same vascular supply of the choroid and retinal pigment epithelium. When measured with our technique based on the 1:1 micron images, the reliability ofSFCT measurement was very high despite highly morphologic inter-individual variations.


Asunto(s)
Coroides/anatomía & histología , Tomografía de Coherencia Óptica , Adulto , Anciano , Anciano de 80 o más Años , Pueblo Asiatico , Femenino , Fóvea Central/anatomía & histología , Humanos , Masculino , Persona de Mediana Edad , Valores de Referencia , Reproducibilidad de los Resultados , Retina/anatomía & histología , Tailandia
14.
Invest Ophthalmol Vis Sci ; 55(4): 2259-68, 2014 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-24618324

RESUMEN

PURPOSE: To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP). METHODS: Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-rod dystrophy were analyzed for variant detection. RESULTS: Seventeen variants (13 novel and 4 known) in 13 genes were identified in 11 patients. These variants include 10 missense substitutions, 2 nonsense mutations, 3 deletions, 1 insertion, and 1 splice site change. Nine patients with identified inheritance patterns carried a total of 10 potentially pathogenic mutations located in genes CRB1, C8orf37, EYS, PROM1, RP2, and USH2A. Three of the nine patients also demonstrated additional heterozygous variants in genes ABCA4, GUCY2D, RD3, ROM1, and TULP1. In addition, two patients carried variants of uncertain significance in genes FSCN2 and NR2E3. The RP phenotypes of our patients were consistent with previous reports. CONCLUSIONS: This is the first report of mutations in Thai RP patients. These findings are useful for genotype-phenotype comparisons among different ethnic groups.


Asunto(s)
ADN/genética , Exoma/genética , Proteínas del Ojo/genética , Mutación , Retinitis Pigmentosa/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Análisis Mutacional de ADN , Proteínas del Ojo/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Prevalencia , Retinitis Pigmentosa/epidemiología , Retinitis Pigmentosa/metabolismo , Tailandia/epidemiología
15.
J Med Assoc Thai ; 96(3): 318-23, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23539935

RESUMEN

OBJECTIVE: To study the prevalence of optic atrophy in patients with proliferative diabetic retinopathy (PDR) who underwent intravitreal bevacizumab injection and risk factors associated with optic atrophy. MATERIAL AND METHOD: A retrospective case control study enrolled 269 cases (394 eyes) of patients with PDR, in which 166 cases (219 eyes) received intravitreal bevacizumab injection. Associated factors such as type of DM, hemoglobin A1c level, hypertension, hypercholesterolemia, chronic kidney disease, previous intravitreal surgery retinal detachment, and vitreous hemorrhage were recorded. Criteria for diagnosis of optic atrophy were decreased visual acuity, pale optic disc and decreased nerve fiber layer thickness, which was measured by Stratus optical coherence tomography (OCT). The association between intravitreal bevacizumab injection and optic atrophy was analyzed by multiple logistic regression. RESULTS: Two hundred sixty nine patients with PDR, consisting of 166 patients with intravitreal bevacizumab injection and 103 cases without bevacizumab injection. Optic atrophy was found in 11.4% (25/219 eyes) and 8% (14/175 eyes) respectively. There was no evidence that intravitreal bevacizumab injection and associated systemic diseases were related to optic atrophy. The risk factor that was related to optic atrophy was previous intravitreal surgery (adjusted odds ratio (OR), 2.57 [95% CI, 1.13, 5.84], p = 0.024). CONCLUSION: Anti-VEGF (bevacizumab) does not increase the risk of optic atrophy. The ophthalmologists should be aware of subsequent optic atrophy development in patients with PDR who undergo surgical intervention.


Asunto(s)
Inhibidores de la Angiogénesis/efectos adversos , Anticuerpos Monoclonales Humanizados/efectos adversos , Países en Desarrollo , Retinopatía Diabética/tratamiento farmacológico , Atrofia Óptica/inducido químicamente , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Adulto , Anciano , Inhibidores de la Angiogénesis/administración & dosificación , Anticuerpos Monoclonales Humanizados/administración & dosificación , Bevacizumab , Femenino , Humanos , Inyecciones Intravítreas , Modelos Logísticos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Oftalmoscopía , Atrofia Óptica/diagnóstico , Estudios Retrospectivos , Factores de Riesgo , Tailandia , Tomografía de Coherencia Óptica
16.
J Med Assoc Thai ; 95 Suppl 4: S30-5, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22696849

RESUMEN

BACKGROUND: Posterior capsule rupture is one of the most common intra-operative complications of cataract surgery and may lead to other sequelae that affect visual outcome. OBJECTIVE: To determine the visual outcome and sequelae at 1 year after cataract surgery complicated by posterior capsule rupture and factors related to poor visual outcome. MATERIAL AND METHOD: Retrospective chart reviews of the patients who underwent cataract surgery complicated by posterior capsule rupture in Siriraj Hospital between January 2006 and December 2009 were performed. Data collected included demographic data, underlying systemic diseases, pre-existing ophthalmic diseases, type of cataract, type of operation, vitrectomy methods, type of intraocular lens (IOL) implantation, pre-operative and post-operative visual acuity, subsequent complications and management. RESULTS: There were 525 cases that received cataract surgery complicated by posterior capsule rupture. After excluding 280 cases with the follow-up period of shorter than 1 year 245 eyes of 242 patients were studied. These comprised 111 males and 131 females. The mean age was 69.3 years, ranged from 40 to 92 years. The mean logarithm of the minimum angle of resolution (logMAR) best-corrected visual acuity (BCVA) at 1 year was 0.43 (median 0.24). The proportion of patients who had BCVA of 0.3 logMAR or better was 64.5%. After excluding eyes with pre-existing diseases, 72.9% got this level of BCVA. Vitrectomy was required in 75.5%; which consisted of anterior vitrectomy (68.6%) and posterior vitrectomy (6.9%). Primary intra-ocular lens insertion was performed in 87.4%, mostly in the ciliary sulcus (75.5%). Subsequent complications occurred in 13.9%, which included secondary glaucoma (4.9%), cystoid macular edema (2.4o), endophthalmitis (1.6%), rhegmatogenous retinal detachment (1.2%o), IOL displacement (1.2%), uveitis (1.2%), corneal decompensation (0.8%) and fibrous ingrowth (0.4%). The factors associated with the poor visual outcome worse than 0.3 logMAR were pre-existing ocular diseases, incision requiring more than 2 stitches, posterior vitrectomy and subsequent complications (p < 0.05). CONCLUSION: Most of the patients had favorable visual outcome after cataract surgery complicated by posterior capsule rupture. Meticulous vitrectomy to prevent subsequent complications and foldable IOL insertion to minimize the wound size are recommended.


Asunto(s)
Extracción de Catarata/efectos adversos , Cápsula Posterior del Cristalino/lesiones , Agudeza Visual , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Rotura/etiología , Tailandia , Resultado del Tratamiento
17.
J Med Assoc Thai ; 95 Suppl 4: S82-6, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22696857

RESUMEN

OBJECTIVE: To identify the prognostic factors that predict visual outcome in eyes with penetrating ocular injuries with retained intraocular foreign bodies (IOFBs). DESIGN: Retrospective cases series MATERIAL AND METHOD: The authors reviewed the records of 228 patients who had penetrating eye injuries with retained posterior segment IOFBs managed at Siriraj Hospital between June 1995 and February 2008. One hundred and forty-one patients (61.8%) were included in the present study. Associations between final visual outcome and various pre-operative and post operative variables were statistically analyzed. RESULTS: After a mean follow-up of 10.4 +/- 7.7 months, 68 eyes (48.2%) achieved visual acuity of 6/18 or better The final visual acuity ranged between 6/24 and 6/60 in 22 eyes (15.6%) and 51 eyes (36.2%) had visual acuity less than 6/60. Final visual acuity significantly depended on initial visual acuity (p = 0.002), size of entry wound (p = 0.020), size of foreign body (p = 0.018), presence of vitreous hemorrhage (p = 0.014), retinal detachment (p = 0.026) and endophthalmitis (p < 0.0001). CONCLUSION: Visual outcome in penetrating ocular injuries with retained IOFBs was affected by initial visual acuity, size of entry wound, size of foreign body, vitreous hemorrhage, retinal detachment and endophthalmitis. These factors may be helpful for pre-operative counseling and predicting the final visual outcome.


Asunto(s)
Cuerpos Extraños en el Ojo/diagnóstico , Cuerpos Extraños en el Ojo/terapia , Lesiones Oculares Penetrantes/diagnóstico , Lesiones Oculares Penetrantes/terapia , Adolescente , Adulto , Anciano , Cuerpos Extraños en el Ojo/etiología , Lesiones Oculares Penetrantes/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza Visual , Adulto Joven
18.
J Pediatr Hematol Oncol ; 34(6): e218-21, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22584782

RESUMEN

Introduced in 1988 by Kaneko and colleagues, selective ophthalmic arterial infusion of chemotherapeutic drug has recently gained more interest among retinoblastoma experts worldwide. The report showed that the procedure could be repeated up to 12 treatments without serious side effects. We report a 4-year-old girl with bilateral retinoblastoma. The left eye was enucleated for the group E disease. The right eye started with 3 retinal tumors (group C) was treated with systemic chemotherapy plus local therapy. Seven months after the last cycle of chemotherapy, the tumor recurred close to the fovea. Systemic chemotherapy was reinitiated without success. To avoid aggressive cryotherapy and external-beam radiotherapy, selective ophthalmic arterial infusion of chemotherapeutic drugs was performed for 15 sessions. The tumor responded partially without evidence of drug-induced retinal toxicity by the electroretinogram. Minor irregularities of the inner wall of supraclinoid portion of the internal carotid artery were observed only at the sixth session. Narrowing of the vascular lumen occurred on the last 2 sessions. We demonstrate that this technique when performed repeatedly could result in the anatomic changes of the small blood vessel. Careful follow-up is necessary for early detection of any serious consequences.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Recurrencia Local de Neoplasia/tratamiento farmacológico , Arteria Oftálmica/efectos de los fármacos , Neoplasias de la Retina/tratamiento farmacológico , Retinoblastoma/tratamiento farmacológico , Carboplatino/administración & dosificación , Preescolar , Crioterapia , Electrofisiología , Electrorretinografía , Etopósido/administración & dosificación , Femenino , Humanos , Infusiones Intraarteriales , Melfalán/administración & dosificación , Recurrencia Local de Neoplasia/metabolismo , Recurrencia Local de Neoplasia/patología , Arteria Oftálmica/cirugía , Neoplasias de la Retina/metabolismo , Neoplasias de la Retina/patología , Retinoblastoma/metabolismo , Retinoblastoma/patología , Resultado del Tratamiento , Vincristina/administración & dosificación
19.
J Ocul Pharmacol Ther ; 28(1): 53-8, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21916618

RESUMEN

PURPOSE: The purpose of this study was to analyze the outcome of treating epidemic keratoconjunctivitis (EKC) with 2% povidone-iodine (PVP-I) solution. METHODS: A prospective, interventional, uncontrolled study was performed in participants diagnosed with EKC. PVP-I was applied to the affected eyes 4 times a day for a week. Participants were informed about transient eye stinging and discoloration after application. Drug discontinuation was allowed for early recovery or encountering any adverse effects. Data collection included history, symptoms, and signs at the initial presentation and at 1 week. Main outcomes were the recovery rate within a week of treatment and drug tolerability. RESULTS: Of 172 enrolled, 61 participants completed the study. EKC occurred bilaterally in 40 participants (66%). Single eye from each participant was included for analysis. The mean (standard deviation) time elapsed before treatment was 2.1 (1.46) days. The recovery rate within a week of treatment was 77% (95% confidence interval, 65.1-85.8). Twenty-eight participants (45.9%) recovered within a week after the onset. Application of PVP-I was sustained until recovery or completing a 7-day trial in 78.7%. No severe ocular or systemic adverse effects have been reported related to this treatment. CONCLUSIONS: Ocular application of 2% PVP-I was tolerable. This measure successfully relieved ocular discomfort from EKC in 3 quarters of the study group within a week. A randomized, controlled trial is required to verify the benefit of this measure.


Asunto(s)
Antiinfecciosos Locales/uso terapéutico , Queratoconjuntivitis/tratamiento farmacológico , Povidona Yodada/uso terapéutico , Administración Oftálmica , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antiinfecciosos Locales/administración & dosificación , Antiinfecciosos Locales/efectos adversos , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Povidona Yodada/administración & dosificación , Povidona Yodada/efectos adversos , Estudios Prospectivos , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
20.
Curr Eye Res ; 35(3): 242-7, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20373884

RESUMEN

PURPOSE: Increased level of cyclooxygenase-2 (COX-2) plays a significant role in the pathogenesis of cancers. High expression of COX-2 has been demonstrated in several cancer types including retinoblastoma. However, the in vivo study did not confirm the anti-proliferative effect of COX-2 inhibitor, celecoxib, on a murine transgenic retinoblastoma model. We, therefore, aim to investigate COX-2 expression in paraffin-embedded retinoblastoma specimens in a larger study group. METHODS: We reviewed 55 retinoblastoma specimens obtained during 1995 to 2005. Clinical and histopathological data were recorded. Immunohistochemical evaluation of COX-2 expression was performed using a rabbit monoclonal antibody to human cyclooxygenase-2. RESULTS: Forty-four of 55 specimens (80%) showed negative immunoreactivity for COX-2 expression. For the 11 specimens (20%, 95% CI = 11.6-32.4%) with positive COX-2, all immunostainings were less than 50% of tumor area. Demographic data and treatment details were available in 53 specimens. Enucleation was performed as a primary treatment in 43 specimens (81%). Other treatments, mainly systemic chemotherapy, were given prior to enucleation in 10 specimens (19%). There was no statistical difference in COX-2 expression between the specimens identified as primary and secondary enucleation (p = 0.66). Regarding the histopathological findings, there were no significant differences between COX-2 negative and COX-2 positive groups. CONCLUSIONS: It appears that COX-2 is not overexpressed in our retinoblastoma specimens, which is different from previous studies. This conflicting data reduces the possibility of introducing Cox-2 inhibitors in the treatment of retinoblastoma.


Asunto(s)
Ciclooxigenasa 2/metabolismo , Neoplasias de la Retina/enzimología , Retinoblastoma/enzimología , Niño , Preescolar , Enucleación del Ojo , Femenino , Humanos , Técnicas para Inmunoenzimas , Lactante , Masculino , Neoplasias de la Retina/patología , Neoplasias de la Retina/cirugía , Retinoblastoma/patología , Retinoblastoma/cirugía
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