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1.
BMC Med Genomics ; 17(1): 94, 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38641846

RESUMO

BACKGROUND: Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. CASE PRESENTATION: A 40-year-old female patient was referred to our department after undergoing aneurysm transcatheter arterial embolization for a brain aneurysm. She had no history of systemic diseases, except for unsatisfactory best-corrected visual acuity (BCVA) since elementary school. Electrophysiological tests confirmed the findings in retinal images, indicating optic nerve atrophy. Chromosomal microarray analysis revealed a de novo deletion spanning 960 kb on chromosome 3q29, encompassing OPA1 and six neighboring genes. Unlike previously reported deletions in this region associated with optic atrophy, neuropsychiatric disorders, and obesity, this patient displayed a unique combination of optic atrophy and a brain aneurysm. However, there is no causal relationship between the brain aneurysm and the CNV. CONCLUSION: In conclusion, the optic atrophy is conclusively attributed to the OPA1 deletion, and the aneurysm could be a coincidental association. The report emphasizes the likelihood of underestimating OPA1 deletions due to sequencing technology limitations. Recognizing these constraints, healthcare professionals must acknowledge these limitations and consistently search for OPA1 variants/deletions in Autosomal Dominant Optic Atrophy (ADOA) patients with negative sequencing results. This strategic approach ensures a more comprehensive exploration of copy-number variations, ultimately enhancing diagnostic precision in the field of genetic disorders.


Assuntos
Aneurisma Intracraniano , Atrofia Óptica , Feminino , Humanos , Adulto , Mutação , Variações do Número de Cópias de DNA , Aneurisma Intracraniano/genética , Atrofia Óptica/genética , Fenótipo , Cromossomos , Linhagem , GTP Fosfo-Hidrolases/genética
2.
Diabetes Metab Res Rev ; 40(2): e3773, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38598767

RESUMO

AIMS: Sodium-glucose cotransporter-2 inhibitors (SGLT2is) are proposed to alleviate the development of inflammatory eye diseases. However, the association between SGLT2i and retinal vascular occlusion remains unclear. Therefore, this study aims to explore the effects of SGLT2i on the incidence of retinal vascular occlusion. MATERIALS AND METHODS: This retrospective cohort study analysed electronic medical records data from the largest multi-institutional database in Taiwan. Individuals who initiated SGLT2is and dipeptidyl peptidase 4 inhibitors (DPP4is) between 2016 and 2019 were included in our analysis. To conduct a homogenous comparison, inverse probability of treatment weighting with propensity scoring was employed. The primary outcome was retinal vascular occlusion, and the secondary outcomes were retinal vascular occlusion-related complications (macular oedema, vitreous haemorrhage, and tractional retinal detachment) and conditions requiring vitreoretinal intervention (intravitreal injection, retinal laser therapy, and vitrectomy). RESULTS: In total, 12,074 SGLT2i users and 39,318 DPP4i users were included. The incidence rate of retinal vascular occlusion in the SGLT2i and DPP4i groups was 1.2 (95% confidence interval [CI], 0.9-1.4) and 1.6 (95% CI, 1.3-1.8) events per 1000 person-years, respectively, which yielded a subdistribution hazard ratio (SHR) of 0.74 (95% CI, 0.55-0.99). Similar risk reductions were observed in the retinal vascular occlusion-related complications (SHR, 0.76; 95% CI, 0.69-0.84) and conditions requiring vitreoretinal intervention (SHR, 0.84; 95% CI, 0.77-0.94). CONCLUSIONS: In this multi-institutional study in Taiwan, SGLT2i use was associated with a reduced risk of retinal vascular occlusion. Further prospective studies are required to ascertain this association.


Assuntos
Inibidores da Dipeptidil Peptidase IV , Inibidores do Transportador 2 de Sódio-Glicose , Humanos , Estudos Retrospectivos , Inibidores do Transportador 2 de Sódio-Glicose/efeitos adversos , Taiwan/epidemiologia
3.
Eye (Lond) ; 2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38632472

RESUMO

OBJECTIVES: To evaluate the morphology of lamina cribrosa (LC) in preterm school-aged children. METHODS: A study of 120 eyes from 120 patients, including 42 full-term children (control group), 41 preterm children without retinopathy of prematurity (ROP), 16 children with ROP treated with intravitreal bevacizumab (IVB), and 21 children with ROP treated with laser. Five parameters of LC were measured by optical coherence tomography, including Bruch's membrane opening (BMO) diameter, minimum rim width (MRW), LC depth, prelaminar tissue (PLT) thickness, and LC curvature index (LCCI). RESULTS: The PLT thickness increased with age in full-term and preterm children (ß = 30.1, P = 0.003 and ß = 19.6, P < 0.001, respectively). LC depth and LCCI showed no differences between full-term and preterm children. Worse refractive errors in preterm children were associated with greater MRW and PLT thickness (ß = -17.1, P = 0.001 and ß = -5.7, P = 0.03, respectively). However, this relationship was not found in full-term children. Laser-treated children had greater MRW, PLT, temporal peripapillary retinal nerve fibre layer, and foveal thickness than full-term or other preterm children (all P < 0.05). CONCLUSIONS: Prematurity and ROP treatment may have an impact on the structural development of the LC. Refractive status plays a vital role in the LC structure of preterm children. This highlights the refractive errors of preterm children at school age that merit greater attention.

4.
J Biomed Opt ; 29(4): 047001, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38638839

RESUMO

Significance: Monitoring blood glucose levels is crucial for individuals with diabetes. Noninvasive methods for measuring serum glucose levels have been explored to aid in blood glucose control for diabetes management. Aim: We introduced a noncontact optical glucometer (NCGM) for measuring glucose levels in the aqueous humor of the human eye. We also investigated the correlation between glucose levels in the NCGM and the aqueous humor, blood samples, and self-monitoring blood glucose devices. Approach: The optical system used in this study measured both the near-infrared absorption and polarized rotatory distribution of glucose molecules in the human aqueous humor. This prospective study's outcomes were eye aqueous glucose level, preoperative blood glucose level, intraoperative blood glucose level, and NCGM reading of patients in a single center in Taiwan. Results: The NCGM's measurements showed a strong correlation with blood glucose levels (intra-class correlation [ICC]: 0.95 to 0.98) and aqueous humor glucose levels (ICC: 0.76), indicating its ability to noninvasively measure blood glucose levels in human subjects. Conclusions: This NCGM may offer a convenient, pain-free, and rapid tool for measuring blood glucose levels in diabetic patients. The device could represent a significant advancement in noncontact hybrid optical glucose measurement systems.


Assuntos
Diabetes Mellitus , Dispositivos Ópticos , Humanos , Glicemia , Humor Aquoso , Estudos Prospectivos , Glucose
5.
Artigo em Inglês | MEDLINE | ID: mdl-38507045

RESUMO

PURPOSE: To evaluate stereopsis in term-born, preterm, and preterm children with and without retinopathy of prematurity (ROP) and its treatment. METHODS: The cross-sectional study included 322 children between 3 and 11 years of age born term or preterm, with or without ROP, and with or without treatment for ROP. The ROP treatments were laser therapy, intravitreal injection (IVI) of anti-vascular endothelial growth factor, or their combination. Stereoacuity was measured using the Titmus Stereo Test, and the results among various age groups were analyzed. RESULTS: Stereopsis was found to improve with increasing age at testing (P < 0.001) across the entire study population. The term group exhibited significantly better stereoacuity than the preterm group (P < 0.001). At 3-5 years and 6-8 years, the preterm children without ROP exhibited significantly better stereoacuity than did those with ROP (P < 0.001 and P = 0.02, respectively); however, at 9-11 years, both groups exhibited similar stereoacuity (P = 0.34). The stereoacuity in the children with untreated ROP was similar to that of the children with treated ROP in all age groups (P > 0.05). No significant differences in stereopsis were identified between children with ROP treated with laser versus with IVI (P > 0.05). From multivariate analysis, younger age at testing (P = 0.001) and younger gestational age (P < 0.001) were associated with poorer stereopsis. CONCLUSIONS: Stereopsis development gradually improved with age in all groups. The children born preterm exhibited poorer stereoacuity than those born term. Children with ROP treated with laser photocoagulation versus IVI may exhibit similar levels of stereoacuity. Younger age at testing and gestational age were independent risk factors for poorer stereoacuity.

6.
Asia Pac J Ophthalmol (Phila) ; 13(1): 100030, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38233300

RESUMO

PURPOSE: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region. DESIGN: Multi-national, multi-center collaborative network. METHODS: The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries. RESULTS: The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists. CONCLUSIONS: The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally.


Assuntos
Países em Desenvolvimento , Humanos , Filipinas , China , Tailândia , Malásia
7.
Int J Mol Sci ; 24(24)2023 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-38139016

RESUMO

Müller cells play a critical role in the closure of macular holes, and their proliferation and migration are facilitated by the internal limiting membrane (ILM). Despite the importance of this process, the underlying molecular mechanism remains underexplored. This study investigated the effects of ILM components on the microRNA (miRNA) profile of Müller cells. Rat Müller cells (rMC-1) were cultured with a culture insert and varying concentrations of ILM component coatings, namely, collagen IV, laminin, and fibronectin, and cell migration was assessed by measuring cell-free areas in successive photographs following insert removal. MiRNAs were then extracted from these cells and analyzed. Mimics and inhibitors of miRNA candidates were transfected into Müller cells, and a cell migration assay and additional cell viability assays were performed. The results revealed that the ILM components promoted Müller cell migration (p < 0.01). Among the miRNA candidates, miR-194-3p was upregulated, whereas miR-125b-1-3p, miR-132-3p, miR-146b-5p, miR-152-3p, miR-196a-5p, miR-542-5p, miR-871-3p, miR-1839-5p, and miR-3573-3p were significantly downregulated (p < 0.05; fold change > 1.5). Moreover, miR-152-3p and miR-196a-5p reduced cell migration (p < 0.05) and proliferation (p < 0.001), and their suppressive effects were reversed by their respective inhibitors. In conclusion, miRNAs were regulated in ILM component-activated Müller cells, with miR-152-3p and miR-196a-5p regulating Müller cell migration and proliferation. These results serve as a basis for understanding the molecular healing process of macular holes and identifying potential new target genes in future research.


Assuntos
MicroRNAs , Perfurações Retinianas , Animais , Ratos , Colágeno Tipo IV/farmacologia , Células Ependimogliais , Membranas , MicroRNAs/genética , MicroRNAs/farmacologia , Perfurações Retinianas/genética
8.
Invest Ophthalmol Vis Sci ; 64(14): 25, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37975849

RESUMO

Purpose: This study investigated the clinical characteristics of patients with PROM1-related inherited retinal diseases (IRDs). Methods: Patients diagnosed with IRDs who had mutations in PROM1 were identified at Linkou Chang Gung Memorial Hospital and Kaohsiung Medical University Hospital in Taiwan. Information on clinical characteristics and best-corrected visual acuity was recorded. Color fundus (CF) images, fundus autofluorescence photography (FAF), spectral-domain optical coherence tomography (SD-OCT), and electroretinograms (ERGs) were analyzed to examine patient phenotypes. PROM1 variants were detected using whole exome sequencing and verified by Sanger sequencing. Results: Fourteen patients from nine families with PROM1-related IRDs were analyzed. Most patients exhibited chorioretinal atrophy in the macular area, with or without extramacular involvement on CF. Similarly, hypo-autofluorescence confined to the macular area, with or without extramacular involvement, was present for most patients on FAF. Furthermore, SD-OCT revealed outer retinal tubulations and focal or diffuse retinal thinning. ERGs showed variable findings, including maculopathy with normal ERG, subnormal cone response, and extinguished rod and cone responses. We detected five variants of the PROM1 gene, including c.139del, c.794del, c.1238T>A, c.2110C>T, and c.1117C>T. Conclusions: In this study, we evaluated 14 Taiwanese patients with five PROM1 variants. Additionally, incomplete penetrance of heterozygous PROM1 variants was observed. Furthermore, patients with autosomal dominant PROM1 variants had lesions in the macular area and the peripheral region of the retina. SD-OCT serves as a useful tool for early detection of PROM1-related IRDs, as it captures certain signs of such diseases.


Assuntos
Degeneração Macular , Degeneração Retiniana , Humanos , Retina/patologia , Degeneração Retiniana/genética , Degeneração Macular/diagnóstico , Células Fotorreceptoras Retinianas Cones , Mutação , Eletrorretinografia , Tomografia de Coerência Óptica/métodos , Antígeno AC133/genética
9.
Eye (Lond) ; 2023 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-37865724

RESUMO

OBJECTIVES: To investigate the changes in the temporal vascular angles after epiretinal membrane (ERM) surgery and utilize the angles to predict visual outcomes. METHODS: A total of 168 eyes from 84 patients with unilateral ERM who underwent vitrectomy were enrolled from a single institution. The angles of temporal venous (anglevein) and arterial arcades (angleartery) were measured on fundus photographs. The relationships between the angles and the best-corrected visual acuity (BCVA) were explored and multivariable logistic models and receiver operating characteristic (ROC) curves were analyzed to identify the factors that predicted visual outcomes. RESULTS: At baseline, both angleartery and anglevein were narrower in the eyes with ERM than the fellow eyes (p < 0.001 and 0.007) but had no correlation with the baseline BCVA (p = 0.754 and 0.804). Postoperatively, the angleartery and anglevein significantly widened (both p < 0.001) and a greater BCVA improvement was associated with a greater widening of the angleartery (p = 0.029) and anglevein (p = 0.050). Multivariable logistic analyses found a narrower baseline angleartery compared to the fellow eye had a higher chance for BCVA improvement ≧ 2 lines (Odds ratio = 0.97; 95% CI, 0.94-0.99; p = 0.016). ROC curve showed the baseline difference in the angleartery between bilateral eyes predicted BCVA improvement ≧ 2 lines (area under the curve = 0.74; p = 0.035), and a 0.73 sensitivity and 0.80 specificity with a cut-off value of -27.19 degrees. CONCLUSIONS: The retinal vascular angles widened after ERM surgery and the fundus photograph-derived angles may serve as a highly-accessible biomarker to predict postoperative visual outcomes.

10.
Diagnostics (Basel) ; 13(19)2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37835784

RESUMO

Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing.

12.
Invest Ophthalmol Vis Sci ; 64(7): 11, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37272765

RESUMO

Purpose: This study investigated the associations between vascular endothelial growth factor (VEGF) polymorphisms and retinopathy of prematurity (ROP) risk. Methods: Infants born prematurely at any time from 2009 to 2018 were included. Five single-nucleotide polymorphisms (SNPs) of VEGF were analyzed using real-time PCR in all infants. Multivariate logistic regression was applied to model the associations between VEGF polymorphisms and ROP susceptibility, severity, and premature clinicopathologic characteristics. Results: A total of 334 patients were included and categorized into three groups: those without ROP, those with mild ROP (i.e., ROP not requiring treatment), and those with severe ROP (i.e., ROP for whom treatment was indicated). Among the female patients with ROP, those with VEGF rs3025035 CT (3.231-fold; 95% confidence interval [CI], 1.238-8.431) and a combination of CT and TT genotypes (2.643-fold; 95% CI, 1.056-6.619) exhibited significantly higher risks of severe ROP compared with those with wild-type genotypes. Female ROP infants with VEGF rs3025010 C (TC + CC) alleles had a lower risk of ROP stage ≥3 (odds ratio [OR] = 0.406; 95% CI, 0.165-0.999) than those with TT homozygotes. ROP patients with the VEGF rs10434 A allele (GA + AA) exhibited higher risks of necrotizing enterocolitis (OR = 2.750; 95% CI, 1.119-6.759) and lower risk of bronchopulmonary dysplasia (OR = 0.390; 95% CI, 0.173-0.877) than those with GG homozygotes did. Conclusions: VEGF polymorphisms affect ROP risks differently in male and female infants. In female infants, VEGF rs3025035 with T alleles may predict ROP severity, and VEGF rs3025010 with C alleles may protect against severe ROP.


Assuntos
Retinopatia da Prematuridade , Fator A de Crescimento do Endotélio Vascular , Humanos , Recém-Nascido , Nascimento Prematuro , Fator A de Crescimento do Endotélio Vascular/genética , Retinopatia da Prematuridade/genética
13.
Indian J Ophthalmol ; 71(6): 2548-2554, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37322678

RESUMO

Purpose: To assess changes in surgical decisions and outcomes of rhegmatogenous retinal detachment (RRD) during the COVID-19 pandemic at a tertiary center in Taiwan. Methods: Patients undergoing pars plana vitrectomy (PPV) or scleral buckling (SB) for primary RRD during Taiwan's first wave of domestic COVID-19 cases surge between May and July 2021 (COVID cohort, n = 100) were compared to controls in the closest pre-COVID year, 2019 (pre-COVID cohort, n = 121). Results: The COVID cohort had significantly worse RRD presentation, received more PPV (alone or combined with SB (PPV + SB)) and less SB alone, and had comparable single-surgery anatomic success (SSAS) rates. In patients who underwent PPV, more underwent PPV + SB instead of PPV alone. The decision to combine SB in PPV surgery was significantly affected by the COVID pandemic (odds ratio [OR], 3.1860 [95% confidence interval (CI), 1.1487-8.8361]). However, a shorter duration of symptoms before the first presentation (0.9857 [95% CI, 0.9720-0.9997]) was the only factor related to SSAS, whereas the surgical method had no association. The SSAS rate remained close to or over 90% in patients with a duration of symptoms before surgery ≤4 weeks but dropped to 83.3% in patients with duration >4 weeks. Conclusion: During the COVID-19 pandemic, worse RRD presentations led to a shift in preference for PPV over SB alone as the primary surgery. The pandemic affected surgeons' decision to combine SB during PPV. Nevertheless, SSAS was only associated with the duration of symptoms but not with surgical methods.


Assuntos
COVID-19 , Descolamento Retiniano , Humanos , Descolamento Retiniano/epidemiologia , Descolamento Retiniano/cirurgia , Descolamento Retiniano/diagnóstico , Pandemias , Taiwan/epidemiologia , Centros de Atenção Terciária , Resultado do Tratamento , Acuidade Visual , Estudos Retrospectivos , COVID-19/epidemiologia , Recurvamento da Esclera/métodos , Vitrectomia/métodos
14.
Biomed J ; 47(1): 100607, 2023 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-37196877

RESUMO

BACKGROUND: Concerns about the generalizability of pivotal randomized controlled trials (pRCTs) findings have been raised. We aimed to compare intravitreal dexamethasone implants' (IDIs) effectiveness for diabetic macular edema (DME) and central retinal vein occlusion (CRVO), between eyes eligible and ineligible for pRCTs. METHODS: This retrospective cohort study analyzed Taiwan's Chang Gung Research Database, including DME or CRVO eyes initiating IDIs during 2015-2020. We classified all treated eyes as eligible or ineligible for pRCTs following major selection criteria of the MEAD and GENEVA trials, and evaluated three-, six-, and twelve-month changes in central retinal thickness (CRT) and visual acuity (VA) after initiating IDIs. RESULTS: We included 177 IDI-treated eyes (DME: 72.3%; CRVO: 27.7%), of which 39.8% and 55.1% were ineligible for DME and CRVO pRCTs, respectively. LogMAR-VA and CRT changes at different times were comparable in DME eyes eligible (LogMAR-VA difference: 0.11 to 0.14; CRT difference: -32.7 to -96.9 µm) and ineligible (LogMAR-VA difference: -0.01 to 0.15; CRT difference: -54.5 to -109.3 µm) for the MEAD trial. By contrast, CRVO eyes ineligible for the GENEVA trial had greater LogMAR-VA changes (0.37-0.50) than those eligible (0.26-0.33), with comparable CRT reductions (eligible eyes: -72.3 to -106.4 µm; ineligible eyes: -61.8 to -110.7 µm) (all p-values <0.05 of the mean differences between eligible and ineligible CRVO eyes for all follow-ups). CONCLUSIONS: IDIs had similar VA and CRT outcomes among DME eyes, regardless of pRCT-eligibility. However, among CRVO eyes, those ineligible for pRCTs showed greater deterioration in VA than those eligible.

15.
Orphanet J Rare Dis ; 18(1): 131, 2023 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-37259171

RESUMO

BACKGROUND: Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the SSBP1 gene, associated with variable mitochondrial dysfunctions. RESULTS: We have previously reported a 16-year-old Taiwanese male diagnosed with OPA13 and SSBP1 variant c.320G>A (p.Arg107Gln) was identified by whole exon sequence (WES). This variant was assumed to be de novo since his parents were clinically unaffected. However, WES and Sanger sequencing further revealed the proband's unaffected mother carrying the same SSBP1 variant with a 13% variant allele frequency (VAF) in her peripheral blood. That finding strongly indicates the maternal gonosomal mosaicism contributing to OPA13, which has not been reported before. CONCLUSIONS: In summary, we described the first case of OPA13 caused by maternal gonosomal mosaicism in SSBP1. Parental mosaicism could be a serious issue in OPA13 diagnosis, and appropriate genetic counseling should be considered.


Assuntos
Atrofia Óptica , Degeneração Retiniana , Humanos , Feminino , Masculino , Adolescente , Mosaicismo , Degeneração Retiniana/genética , Aconselhamento Genético , Mutação/genética , Proteínas de Ligação a DNA , Proteínas Mitocondriais
16.
Ophthalmol Sci ; 3(3): 100281, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37113473

RESUMO

Purpose: To investigate vascular abnormalities, including persistent avascular retina (PAR), in a large cohort of patients with regressed or treated retinopathy of prematurity (ROP) through long-term follow-up until school age. Design: Retrospective large cohort study. Participants: We included pediatric patients (< 18 years old) with a history of nontreated or treated ROP (treated with either photocoagulation or intravitreal injection [IVI]) and regularly followed up until 2020. Methods: Upon enrollment, we categorized patients into 4 groups: prematurity, regressed ROP, and IVI and laser treatment ROP groups. All patients had undergone visual acuity examinations, OCT, and ultrawide-field fluorescein angiography. Main Outcome Measures: Percentage of eyes with PAR (greater than or equal to the area of 2 disc diameters from the ora serrata to vascular termini) and with vascular abnormalities in the peripheral and posterior retina. Results: In total, we included 187 eyes of 95 patients. The prevalence of PAR was 0%, 33.33%, and 31.65% in eyes in the prematurity, regressed ROP, and IVI treatment groups, respectively (P < 0.0001). There was no significant difference in the percentage of PAR eyes when comparing regressed ROP group (33.33%) with the IVI treatment group (31.65%). At least 1 type of vascular abnormality was noted until school age in all (100%) treated ROP eyes. Although multivariate analysis found a significant association between IVI treatment and PAR (odds ratio: 10.28, 95% confidence interval: 3.29-32.14) until the school age of 6 to 8 years old, there were no stage 3 eyes in the spontaneously regressed group, suggesting that stage 3 ROP in the IVI group could also drive the association. Conclusions: Approximately one-third of ROP eyes with spontaneous regression or IVI treatment still exhibit PAR when the child reaches school age. Several distinct vascular anomalies at the vascular-avascular juncture and within the vascularized retina can persist in these children. The clinical significance of these anomalies and the decision whether to treat them warrant further investigation to optimize their outcomes. Financial Disclosures: The authors have no proprietary or commercial interest in any materials discussed in this article.

17.
Transl Vis Sci Technol ; 12(4): 18, 2023 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-37067364

RESUMO

Purpose: The relationship between Panton-Valentine leucocidin (PVL), a major virulence factor of Staphylococcus aureus, and disease severity and clinical outcomes remains unclear. We investigated the molecular characteristics and role of the PVL gene in methicillin-resistant S. aureus (MRSA) ocular infection in Taiwan. Methods: Patients with culture-proven S. aureus ocular infection in Chang Gung Memorial Hospital from 2010 to 2017 were included. The presence of the PVL gene was detected for all S. aureus isolates. MRSA isolates were characterized through pulsed-field gel electrophoresis (PFGE), staphylococcal multilocus sequence type, and staphylococcal cassette chromosome mec (SCCmec) typing. Drug susceptibility was examined using disk diffusion method and E-test. Patients' demographics, diagnoses, and outcomes were collected. Results: There were 112 methicillin-sensitive S. aureus and 103 MRSA isolates. Among 50 PVL(+) S. aureus isolates, 43 were MRSA. CC59/PFGE type D/SCCmec IV, VT (38 of 43 isolates, 88%), and CC59/PFGE type C/SCCmec IV (27 of 60 isolates, 45%) were the predominant clones in the PVL(+) and PVL(-) MRSA isolates, respectively. When we compared the two CC59 strains, the patients with PVL(+)/CC59 MSRA infection were significantly younger than those with PVL(-)/CC59 MSRA (39.3 vs. 61.7 years; P = 0.001). PVL(+)/CC59 MSRA caused significantly more eyelid disorders (36.8% vs. 3.7%; P = 0.002) but less keratitis (23.7% vs. 51.9%; P = 0.034). The antibiograms of the two strains were similar. Conclusions: PVL(+) MRSA is significantly associated with eyelid infection, especially in young patients. Translational Relevance: PVL gene plays a role in clinical features of MRSA ocular infections.


Assuntos
Infecções Oculares , Staphylococcus aureus Resistente à Meticilina , Humanos , Staphylococcus aureus Resistente à Meticilina/genética , Staphylococcus aureus/genética , Leucocidinas/genética , Taiwan/epidemiologia
18.
Int J Mol Sci ; 24(7)2023 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-37047276

RESUMO

(1) The glycoprotein B (gB) on the viral envelope, encoded by the most widely characterised polymorphic gene, gpUL55, is responsible for cytomegalovirus (CMV) entry into the host and could serve as a potential marker of pathogenicity. The aim of the present study is to investigate the distribution of the CMV gB genotype in anterior segment infection in Taiwan and its correlation with clinical manifestations and outcomes. (2) Fifty-seven patients with CMV anterior segment infection were identified according to clinical features and positivity for CMV DNA in aqueous humour samples. CMV gB genotyping was performed through polymerase chain reaction assays. Patients' medical records were retrospectively reviewed. (3) Among the 57 aqueous humour samples tested for gB, 40 (70.28%) had multiple gB genotypes, and only 17 (29.82%) had a single gB genotype. Compared with single-genotype infection, multiple-genotype infection was correlated with higher CMV loads (p < 0.001) but not correlated with outcome. A higher proportion of patients with the gB3 genotype had received filtering surgery before antiviral treatment than those without the gB3 genotype (p = 0.046). (4) Multiple-genotype infection was highly prevalent in CMV anterior segment infection in Taiwan, and gB1 and gB3 were predominant. Multiple-genotype infection was correlated with higher CMV loads but not with specific clinical manifestations or prognostic outcomes. The gB3 genotype may be correlated with poor intraocular pressure control.


Assuntos
Infecções por Citomegalovirus , Citomegalovirus , Humanos , Citomegalovirus/genética , Estudos Retrospectivos , Proteínas do Envelope Viral/genética , Infecções por Citomegalovirus/genética , Genótipo , DNA Viral/genética , DNA Viral/análise
19.
Pharmaceutics ; 15(4)2023 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-37111517

RESUMO

Conjunctivitis is commonly reported in dupilumab users with atopic dermatitis (AD), and few studies have compared the risk of conjunctivitis among patients with different indications. This study aimed to investigate the association between dupilumab and conjunctivitis in various diseases. The protocol of this study was registered on PROSPERO (ID CRD42023396204). The electronic search of PubMed, Embase, Cochrane Library, and ClinicalTrials.gov was conducted for the period from their inception to January 2023. Only placebo-controlled, randomized controlled trials (RCTs) were included. The main outcome was the incidence of conjunctivitis during the study period. The subgroup analysis was performed for patients with AD and non-AD indications, which include asthma, chronic rhinosinusitis with nasal polyps, and eosinophilic esophagitis. In total, 23 RCTs involving 9153 patients were included for meta-analysis. Dupilumab users exhibited significantly higher risk of conjunctivitis (risk ratio [RR], 1.89; 95% confidence interval [CI], 1.34-2.67) than placebo users. Notably, significantly increased incidence of conjunctivitis was observed in the dupilumab group relative to the placebo group among patients with AD (RR, 2.43; 95% CI, 1.84-3.12) but not among patients with non-AD indications (RR, 0.71; 95% CI, 0.43-1.13). In conclusion, only dupilumab users with AD but not those with non-AD indications reported an elevated incidence of conjunctivitis.

20.
Int J Mol Sci ; 24(6)2023 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-36982910

RESUMO

This study aims to investigate the outcomes and risk factors associated with poor vision (vision less than counting fingers, 2.0 logMAR, Snellen vision 20/2000) in patients with posterior or combined persistent fetal vasculature (PFV), with or without surgery. We retrospectively reviewed the medical records of patients who were diagnosed with PFV from January 2008 to April 2021. We included 51 eyes of 44 patients who presented with PFV, of which 38 eyes underwent surgical correction (pars plicata/plana vitrectomy, with or without lensectomy, and intraocular lens implantation) at the median age of 6.0 months (range: 0.7 to 82.0). The mean follow-up was 68.8 months ± 38.0 months. The axial length change in the eyes undergoing surgery was significantly higher than the eyes without surgery (p = 0.025). Initial anterior chamber collapse and retinal detachment were associated with poor vision (p = 0.006 and p = 0.002, respectively). In addition, 37% of eyes with posterior or combined PFV had vision better than counting fingers. Surgery for eyes with PFV could result in better eye growth. Visual outcomes remained poor and were associated with the level of macular abnormality. Initial anterior chamber collapse and retinal detachment at presentation were the risk factors for poor visual outcomes. Vitrectomy for selected PFV eyes is valuable and associated with a better cosmetic outcome (better eye growth).


Assuntos
Vítreo Primário Hiperplásico Persistente , Descolamento Retiniano , Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Estudos Retrospectivos , Vítreo Primário Hiperplásico Persistente/diagnóstico , Vítreo Primário Hiperplásico Persistente/cirurgia , Vitrectomia , Resultado do Tratamento , Complicações Pós-Operatórias
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