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1.
Artigo em Inglês | MEDLINE | ID: mdl-37938378

RESUMO

PURPOSE: Visual function is a complex process in which external visual stimuli are interpreted. Patients with retinal diseases and prolonged follow-up times may experience changes in their visual function that are not detected by the standard visual acuity measure, as they are a result of other alterations in visual function. With the advancement of different methods to evaluate visual function, additional measurements have become available, and further standardization suggests that some methods may be promising for use in clinical trials or routine clinical practice. The objectives of this article are to review these additional measurements and to provide guidance on their application. METHODS: The Vision Academy's membership of international retinal disease experts reviewed the literature and developed consensus recommendations for the application of additional measures of visual function in routine clinical practice or clinical trials. RESULTS: Measures such as low-luminance visual acuity, contrast sensitivity, retinal fixation and microperimetry, and reading performance are measures which can complement visual acuity measurements to provide an assessment of overall visual function, including impact on patients' quality of life. Measures such as dark adaptation, color vision testing, binocular vision testing, visual recognition testing, and shape discrimination require further optimization and validation before they can be implemented in everyday clinical practice. CONCLUSION: Additional measurements of visual function may help identify patients who could benefit from earlier diagnosis, detection of disease progression, and therapeutic intervention. New and additional functional clinical trial endpoints are required to fully understand the early stages of macular disease, its progression, and the response to treatment.

2.
NPJ Genom Med ; 8(1): 8, 2023 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-37217489

RESUMO

This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.

3.
Int Ophthalmol ; 43(1): 147-153, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35792974

RESUMO

PURPOSE: The aim of this study was to describe the anatomical outcomes of Brilliant Blue G (BBG)-assisted extensive internal limiting membrane peeling for proliferative vitreoretinopathy (PVR) under three-dimensional (3D) visualization. METHODS: This study constitutes a retrospective case series conducted in a private retina practice, of 14 consecutive patients (14 eyes) with rhegmatogenous retinal detachment complicated by PVR who underwent pars plana vitrectomy between January 2019 and January 2020. The internal limiting membrane (ILM) was selectively stained with BBG, and perspectives were enhanced with a 3D visualization system. We peeled off the ILM beyond the vascular arcades up to the periphery. The main outcome was anatomical success, defined as persistent retinal reattachment after removal of the silicone oil tamponade. RESULTS: Anatomic success was achieved with a single surgery in 11 of 14 (78.6%) eyes, and eventual success was achieved in all eyes. The mean patient follow-up time was 12.3 months (range, 7-16 months). The mean preoperative best-corrected visual acuity (BCVA) was 2.93 ± 0.79 logMAR which improved to 1.75 + 0.91 at the last follow-up. CONCLUSION: Extensive ILM peeling allowed the creation of a cleavage plane underlying the PVR membranes that facilitated its complete removal, thereby achieving anatomically reattached retina and reducing the risk of recurrence of retinal detachment. The long-term effects of this technique need further research.


Assuntos
Membrana Epirretiniana , Descolamento Retiniano , Vitreorretinopatia Proliferativa , Humanos , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/cirurgia , Descolamento Retiniano/complicações , Vitreorretinopatia Proliferativa/complicações , Vitreorretinopatia Proliferativa/cirurgia , Estudos Retrospectivos , Membrana Epirretiniana/cirurgia , Retina , Vitrectomia/métodos , Membrana Basal/cirurgia
4.
Int J Retina Vitreous ; 8(1): 76, 2022 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-36258240

RESUMO

BACKGROUND: AQUILA (NCT03470103) was a prospective, observational, 12-month cohort study evaluating treatment patterns, clinical effectiveness, and safety of intravitreal aflibercept (IVT-AFL) in patients from Latin America with neovascular age-related macular degeneration (nAMD). METHODS: Treatment-naïve and previously treated (switching to IVT-AFL) patients (aged ≥ 55 years) were enrolled from March 2018, with a primary completion date of September 2020, from Argentina, Colombia, Costa Rica, and Mexico. Patients received IVT-AFL in a routine clinical practice setting. RESULTS: Of 274 patients in the full analysis set, 201 were treatment-naïve and 73 had received previous treatment. The mean ± standard deviation number of IVT-AFL injections received by month 12 was 4.2 ± 1.9 (treatment-naïve) and 5.2 ± 2.7 (previously treated). The median duration from diagnosis to IVT-AFL treatment was 1.2 months (treatment-naïve) and 19.5 months (previously treated). Mean best-corrected visual acuity (BCVA) (Early Treatment Diabetic Retinopathy Study [ETDRS] letters) improved from baseline to month 12 by + 5.2 ± 18.3 (treatment-naïve; baseline: 48.2 ± 23.5) and + 3.1 ± 15.3 letters (previously treated; baseline: 47.7 ± 21.4). CONCLUSION: AQUILA is the first study to assess the use of IVT-AFL in routine clinical practice in Latin America. Mean BCVA and other visual acuity outcomes improved in both treatment groups, despite many patients not receiving the IVT-AFL label-recommended regimen of three initial monthly doses, or seven or more injections in 12 months. Patients who did receive the label-recommended number of injections had numerically greater improvements in visual acuity outcomes. Patients with nAMD treated regularly and more frequently with IVT-AFL, therefore, have the potential to achieve outcomes consistent with those observed in interventional studies. TRIAL REGISTRATION: Clinicaltrials.gov, NCT03470103. Registered February 5, 2018, https://clinicaltrials.gov/ct2/show/NCT03470103.

5.
Int J Retina Vitreous ; 8(1): 52, 2022 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-35918743

RESUMO

BACKGROUND: AQUILA (NCT03470103) was a prospective, observational, 12-month cohort study to understand treatment patterns and to evaluate the clinical effectiveness and safety of intravitreal aflibercept (IVT-AFL) in patients from Latin America with diabetic macular edema (DME). METHODS: Treatment-naïve and previously treated (switching to IVT-AFL) patients (aged ≥ 18 years) were enrolled from March 2018, with a primary completion date of September 2020, from Argentina, Colombia, Costa Rica and Mexico. Patients received IVT-AFL in a routine clinical practice setting. RESULTS: Of 258 patients in the full analysis set, 181 were treatment-naïve and 77 had received previous treatment. The mean ± standard deviation number of IVT-AFL injections by Month 12 was 3.7 ± 1.8 (treatment-naïve) and 4.0 ± 2.2 (previously treated). The median duration from diagnosis to IVT-AFL treatment was 1.8 months (treatment-naïve) and 16.0 months (previously treated). Mean best-corrected visual acuity (Early Treatment Diabetic Retinopathy Study letters) improved from baseline to Month 12 by + 8.1 ± 17.7 (treatment-naïve; baseline: 54.5 ± 19.4) and + 4.6 ± 15.4 letters (previously treated; baseline: 52.9 ± 18.6). CONCLUSION: AQUILA is the first study to assess the use of IVT-AFL in routine clinical practice in Latin America. Despite few patients being treated with the label-recommended regimen of 5 initial monthly doses or receiving ≥ 8 injections in 12 months, functional and anatomic visual outcomes improved during 12 months of treatment with IVT-AFL. Patients receiving the label-recommended number of injections had numerically greater improvements in visual acuity outcomes. Patients with DME treated regularly and more frequently with IVT-AFL therefore have the potential to achieve outcomes consistent with those observed in interventional studies. Trial registration Clinicaltrials.gov, NCT03470103. Registered February 5, 2018, https://clinicaltrials.gov/ct2/show/NCT03470103.

7.
J Neurointerv Surg ; 14(10): 968-972, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34987072

RESUMO

BACKGROUND: There is considerable overlap of contributors to cardiovascular disease and the development of age-related macular degeneration (AMD). Compromised ocular microcirculation due to aging and vascular disease contribute to retinal dysfunction and vision loss. Decreased choroidal perfusion is evident in eyes with dry AMD and is thought to play a role in retinal pigment epithelial dysfunction, the rate of development of geographic atrophy, and the development of neovascularization. The aim of the study was to demonstrate that AMD is correlated with a compromised blood flow in the ocular pathway and show OA angioplasty as a potential treatment of late-stage AMD. METHODS: Based on the potential for the ophthalmic artery (OA) to be an anatomical target for the treatment of AMD as outlined above, five patients were found to be eligible for compassionate use treatment, presenting clinically significant late-stage AMD with profound vision loss in one or both eyes, and are included in this retrospective study. RESULTS: OA narrowing, or significant calcium burden at the ophthalmic segment of the internal carotid artery compromising the origin of the OA was confirmed in all cases. Subsequent OA cannulation was achieved in all patients with some difficulty. Subjective patient reports indicated that all patients perceived a benefit following the procedure; however, improved postoperative visual acuity did not confirm that perceived benefit for one of the patients. CONCLUSIONS: Feasibility and safety of the OA angioplasty were demonstrated, and a benefit perceived in five patients with profound vision loss and a desire to achieve improved quality of life. A clinical trial with controlled schedule, imaging, and methodologies is needed to confirm these results.


Assuntos
Degeneração Macular , Artéria Oftálmica , Angioplastia , Humanos , Degeneração Macular/tratamento farmacológico , Degeneração Macular/terapia , Artéria Oftálmica/diagnóstico por imagem , Artéria Oftálmica/cirurgia , Qualidade de Vida , Estudos Retrospectivos
8.
Case Rep Ophthalmol ; 12(1): 150-153, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33976673

RESUMO

Retinal arterial macroaneurysms (RAM) are characterized by a saccular or fusiform dilation of the retinal artery wall. An 84-year-old Caucasian woman with a medical history of poorly controlled hypertension was diagnosed with RAM in the left eye. Previous macular spectral-domain optical coherence tomography images from the patient were available for comparison. Near-infrared reflectance imaging (NIR-R), taken 3 years before, demonstrated a cuff-type thickening of the arteriolar vessel wall at the site of the current complicated RAM that had gone completely unnoticed. These findings suggest that NIR-R may contribute to the detection of early damage of the arterial wall that may predict arterial aneurysm formation in hypertensive patients.

9.
PLoS One ; 14(11): e0224981, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31697752

RESUMO

PURPOSE: To compare the intraocular lens calculation formulas and evaluate postoperative refractive results of patients with previous hyperopic corneal refractive surgery. DESIGN: Retrospective, comparative, observational study. SETTING: Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA. METHODS: Clinical charts and optical biometric data of 39 eyes from 24 consecutive patients diagnosed with previous hyperopic laser vision correction and cataract surgery were reviewed and analyzed. The Intraocular lens (IOL) power calculation using the Holladay 2 formula (Lenstar) and the American Society of Cataract and Refractive Surgery (ASCRS) Post-Refractive IOL Calculator (version 4.9, 2017) were compared to the actual manifest refractive spherical equivalent (MRSE) following cataract surgery. No pre-Lasik / PRK or post-Lasik / PRK information was used in any of the calculations. The IOL prediction error, the mean IOL prediction error, the median absolute refractive prediction error, and the percentages of eyes within ±0.50 diopter (D) and ±1.00 D of the predicted refraction were calculated. RESULTS: The Holladay 2 formula produced a mean arithmetic IOL prediction error significantly different from zero (P = 0.003). Surprisingly, the mean arithmetic IOL prediction errors generated by Shammas, Haigis-L and Barret True K No History formulas were not significantly different from zero (P = 0.14, P = 0.49, P = 0.81, respectively).There were no significant differences in the median absolute refractive prediction error or percentage of eyes within ± 0.50 D or ± 1.00 D of the predicted refraction between formulas or methods. CONCLUSION: In eyes with previous hyperopic LASIK/PRK and no prior data, there were no significant differences in the accuracy of IOL power calculation between the Holladay 2 formula and the ASCRS Post-refractive IOL calculator.


Assuntos
Hiperopia/fisiopatologia , Hiperopia/cirurgia , Lentes Intraoculares , Refração Ocular , Idoso , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos
10.
Acta Diabetol ; 56(10): 1141-1147, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31089929

RESUMO

AIM: Main failure of diabetic tractional retinal detachment (TRD) surgery is the development of proliferative vitreoretinopathy (PVR), causing higher re-detachment rates. We investigated whether the use of dexamethasone (DEX) implant at the end of pars plana vitrectomy (PPV) with silicone oil tamponade might have an impact on these outcomes. DESIGN: Comparative, nonrandomized, retrospective study. PARTICIPANTS: A total of 148 eyes from 148 patients that underwent PPV with silicone oil tamponade for diabetic TRD (with DEX implant, n = 52; without DEX implant, n = 96). METHODS: Consecutive patients' records were reviewed for time between TRD diagnosis and surgery; lens status before surgery and after 6, 12, and 24 months; retina attachment rate after primary PPV; change in postoperative PVR severity; rate of re-detachment at 6, 12, and 24 months; use of IOP lowering treatment after 6, 12, and 24 months; surgery details; intra- and postoperative complications. Correlations between outcome measures, postoperative PVR severity, and re-detachment rates were analyzed. MAIN OUTCOME MEASURES: Change in postoperative PVR severity and retinal re-detachment rates with and without the adjuvant use of DEX implant. RESULTS: Retinal re-detachment rates were significantly higher in the group of patients that did not receive DEX implant [11/96 (11.5%) vs. 0/52 (0%), p = 0.049; 11/84 (12.9%) vs. 4/52 (7.7%), p = 0.007; 14/71 (19.7%) vs. 5/52 (10%) p < 0.001 at 6, 12, and 24 months, respectively]. PVR severity correlated with retinal status at 12 and 24 months (p = 0.018 and p = 0.027, respectively). The difference in PVR severity between the two groups was statistically significant at 6, 12, and 24 months (p < 0.001). CONCLUSIONS: DEX implant at the end of PPV in patients with diabetic TRD improves PVR severity and decreases re-detachment rates. This should be considered as an option in the customized treatment of TRD.


Assuntos
Dexametasona/administração & dosagem , Retinopatia Diabética/tratamento farmacológico , Retinopatia Diabética/cirurgia , Descolamento Retiniano/tratamento farmacológico , Descolamento Retiniano/cirurgia , Vitrectomia/métodos , Adulto , Idoso , Terapia Combinada , Dexametasona/efeitos adversos , Retinopatia Diabética/complicações , Implantes de Medicamento/administração & dosagem , Implantes de Medicamento/efeitos adversos , Feminino , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Período Pós-Operatório , Retina/efeitos dos fármacos , Retina/fisiopatologia , Estudos Retrospectivos , Óleos de Silicone/administração & dosagem , Óleos de Silicone/efeitos adversos , Acuidade Visual/efeitos dos fármacos , Vitrectomia/efeitos adversos , Vitreorretinopatia Proliferativa/tratamento farmacológico , Vitreorretinopatia Proliferativa/etiologia , Vitreorretinopatia Proliferativa/cirurgia
11.
Infect Immun ; 86(8)2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29844238

RESUMO

Extraintestinal pathogenic Escherichia coli (ExPEC) is responsible for various infections outside the gastrointestinal tract in humans and other animals. ExPEC strain MT78 is invasive to various nonphagocytic cells and highly virulent in vivo To identify genes required for invasion of nonphagocytic cells by this strain, we applied signature-tagged mutagenesis to generate a library of mutants and tested them for invasion of avian fibroblasts. Mutants showing reduced cellular invasion included those with insertions in the fim operon, encoding type 1 fimbriae. Another attenuated mutant showed a disruption in the treA gene, which encodes a periplasmic trehalase. The substrate of TreA, trehalose, can be metabolized and used as a carbon source or can serve as an osmoprotectant under conditions of osmotic stress in E. coli K-12. We generated and characterized mutant MT78ΔtreA In contrast to the wild type, MT78ΔtreA was able to grow under osmotic stress caused by 0.6 M urea but not in minimal M9 medium with trehalose as the only carbon source. It presented decreased association and invasion of avian fibroblasts, decreased yeast agglutination titer, and impaired type 1 fimbria production. In a murine model of urinary tract infection, MT78ΔtreA was less able to colonize the bladder. All phenotypes were rescued in the complemented mutant. Our results show that the treA gene is needed for optimal production of type 1 fimbriae in ExPEC strain MT78 and that loss of treA significantly reduces its cell invasion capacity and colonization of the bladder in a murine model of urinary tract infection.


Assuntos
Infecções por Escherichia coli/patologia , Escherichia coli Extraintestinal Patogênica/enzimologia , Escherichia coli Extraintestinal Patogênica/patogenicidade , Fímbrias Bacterianas/metabolismo , Proteínas Periplásmicas/metabolismo , Trealase/metabolismo , Fatores de Virulência/metabolismo , Animais , Aves , Células Cultivadas , Meios de Cultura/química , Modelos Animais de Doenças , Endocitose , Infecções por Escherichia coli/microbiologia , Escherichia coli Extraintestinal Patogênica/genética , Escherichia coli Extraintestinal Patogênica/crescimento & desenvolvimento , Fibroblastos/microbiologia , Fímbrias Bacterianas/genética , Deleção de Genes , Teste de Complementação Genética , Camundongos Endogâmicos CBA , Mutagênese , Proteínas Periplásmicas/genética , Trealase/genética , Bexiga Urinária/microbiologia , Infecções Urinárias/microbiologia , Infecções Urinárias/patologia , Virulência , Fatores de Virulência/genética
12.
Retina ; 36(3): 582-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26383713

RESUMO

PURPOSE: The objective of this study was to introduce and validate a next-generation dual bore cannula for microincisional vitrectomy surgery. METHODS: The SideFlo cannula with a closed tip and four vent ports on the sides was designed and manufactured. The cannula is designed to inject vital dyes for macular staining and perfluorocarbon liquids. Injection and venting properties were assessed subjectively in vivo, and venting was quantified in a plastic eye model system; 23-, 25-, and 27-gauge SideFlo cannulas were assessed and compared with existing axial dual bore cannula designs. RESULTS: The SideFlo cannula created a broad fan-like egress of fluid that was perpendicular to the axial direction of the cannula and eliminated the possibility for retinal fluid jet damage. Enhanced outflow venting was clinically relevant in terms of smoother injection experience and less intraocular pressure rise when compared with previous dual bore designs. Testing in a model eye system confirmed marked improvement in passive outflow compared with the first-generation dual bore cannula single vent port design for all gauges. CONCLUSION: The SideFlo cannula represents a novel next-generation dual bore cannula design with significantly improved performance over first-generation dual bore cannulas. Axial jet damage from fluid injection is eliminated, and pressure equilibration by passive venting from the eye is significantly enhanced.


Assuntos
Cateterismo/instrumentação , Catéteres , Corantes/administração & dosagem , Fluorocarbonos/administração & dosagem , Verde de Indocianina/administração & dosagem , Vitrectomia/instrumentação , Drenagem/instrumentação , Desenho de Equipamento , Humanos , Modelos Anatômicos , Cirurgia Vitreorretiniana
13.
J Cataract Refract Surg ; 31(3): 636-9, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15811759

RESUMO

We used an Orbscan II topography system (Bausch & Lomb) to study anterior and posterior surface abnormalities, keratometry, and topographic pachymetry in a patient with circumscribed posterior keratoconus. This system clearly showed a marked localized paracentral annular elevation in the posterior corneal surface that corresponded to an abrupt decrease in thickness and a slightly localized anterior surface bulge in the anterior float.


Assuntos
Topografia da Córnea/métodos , Endotélio Corneano/patologia , Ceratocone/diagnóstico , Dilatação Patológica , Humanos , Masculino , Pessoa de Meia-Idade
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