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PURPOSE OF REVIEW: To showcase the majority of online intraocular lens (IOL) calculation tools and highlight some of their characteristics. RECENT FINDINGS: Online tools are available for preoperative and postoperative IOL-related calculations, including IOL power and toricity selection for standard patients, patients who underwent prior refractive surgery, keratoconus, limbal relaxing incisions for astigmatism management, realignment of a misplaced or rotated toric IOL, surgical induced astigmatism (SIA), formulae comparison, and other tools. SUMMARY: As there are new online developments and technology is advancing rapidly, we hope that this review will assist ophthalmologists in becoming acquainted with a large variety of online tools.
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Astigmatismo , Lentes Intraoculares , Facoemulsificación , Procedimientos Quirúrgicos Refractivos , Humanos , Implantación de Lentes Intraoculares , Astigmatismo/cirugía , Refracción Ocular , Estudios RetrospectivosRESUMEN
PURPOSE: Phenotypic heterogeneity with variable severity has been reported in female carriers of retinitis pigmentosa GTPase regulator (RPGR) mutations, including a male-type phenotype. A phenomenon not fully understood is peripapillary retinal nerve fiber layer (pRNFL) thickening in male patients with RPGR-associated X-linked retinitis pigmentosa, especially in the temporal sector. We aim to describe the genetic spectrum, retinal phenotypes, and pRNFL thickness in a cohort of Caucasian RPGR-mutation heterozygotes. METHODS: A cross-sectional study was conducted at an inherited retinal degeneration (IRD) reference center in Portugal. Female patients heterozygous for clinically significant RPGR variants were identified using the IRD-PT registry. A complete ophthalmologic examination was performed, complemented by macular and peripapillary spectral domain optical coherence tomography (SD-OCT), ultra-widefield color fundus photography (UW-CFP), and ultra-widefield fundus autofluorescence (UW-FAF). The retinal phenotypes were graded according to previously described classifications. The pRNFL thickness across the superior, inferior, nasal, and temporal quadrants was compared to the Spectralis® RNFL age-adjusted reference database. RESULTS: Forty-eight eyes from 24 females (10 families) were included in the study. Genetic analysis yielded 8 distinct clinically significant frameshift variants in RPGR gene, 3 of which herein reported for the first time. No association was found between mutation location and best-corrected visual acuity (BCVA) or retinal phenotype. Age was associated with worse BCVA and more advanced phenotypes on SD-OCT, UW-CFP, and UW-FAF. Seven women (29.17%) presented a male-type phenotype on UW-FAF in at least one eye. An association was found between UW-FAF and pRNFL thickness in the temporal sector (p = 0.003), with the most advanced fundus autofluorescence phenotypes showing increased pRNFL thickness in this sector. CONCLUSION: This study expands the genetic landscape of RPGR-associated disease by reporting 3 novel clinically significant variants. We have shown that clinically severe phenotypes are not uncommon among female carriers. Furthermore, we provide novel insights into pRNFL changes observed in RPGR heterozygotes that mimic what has been reported in male patients.
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Degeneración Retiniana , Retinitis Pigmentosa , Femenino , Humanos , Masculino , Estudios Transversales , Proteínas del Ojo/genética , Heterocigoto , Fenotipo , Retina , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , Tomografía de Coherencia Óptica/métodos , Fibras Nerviosas , Neuronas RetinianasRESUMEN
BACKGROUND & AIMS: Chronic liver disease is a major worldwide cause of morbidity and mortality. Palliative care policies are not clearly established in chronic liver disease. The NECPAL CCOMS-ICO© (NECesidades PALiativas/Palliative Needs) is a tool to identify palliative care needs, including a section for liver disease. AIM: The aim of this study was to identify palliative care needs in liver patients hospitalised in a tertiary referral Liver Unit. METHODS: Single-centre prospective observational study. One hundred and twenty patients with cirrhosis were included and NECPAL questionnaire was applied to all patients in a 7-month period. RESULTS: 84.2% of patients were considered as requiring palliative intervention; however, clinicians identified those needs only in 65.8% of the cases and caregivers in 6.7% of the cases; less than 8% of the patients were referred for palliative care consultation. An excessive use of healthcare resources (positive answer to question 3) was strongly associated with a positive need for palliative care (positive NECPAL): OR 7.305, CI 95% 2.54-20.995, P < .001). An excessive use of healthcare facilities has a sensitivity of 84.2% and a specificity of 42.1% for prediction of a positive NECPAL result (AUC 0.710, 95% CI 0.570-0.850, P = .004). CONCLUSIONS: The NECPAL CCOMS-ICO© represents a feasible and easy-to-use tool to identify palliative care needs in patients with chronic liver disease.
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Necesidades y Demandas de Servicios de Salud/estadística & datos numéricos , Mortalidad Hospitalaria , Cirrosis Hepática/terapia , Cuidados Paliativos , Anciano , Femenino , Humanos , Cirrosis Hepática/mortalidad , Modelos Logísticos , Masculino , Persona de Mediana Edad , Planificación de Atención al Paciente , Portugal/epidemiología , Estudios Prospectivos , Curva ROC , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To describe the prevalence of lamellar hole-associated epiretinal proliferation (LHEP) and to correlate this finding with lamellar macular hole (LMH) morphology and prognosis after a surgical or conservative approach. METHODS: This is a retrospective multicenter case series comprising consecutive LMH patients followed for ≥6 months. Serial spectral-domain optical coherence tomographies were evaluated for the presence of epiretinal membrane (ERM) and LHEP, diameter of the LMH aperture, base, and floor thickness. Pars plana vitrectomy with ERM and internal limiting membrane peeling was performed in the surgical cases. RESULTS: A total of 62 eyes from 57 consecutive patients were included. Mean follow-up time was 27.1 ± 19.8 months. LHEP was observed in 33 (53.2%) eyes. Patients with LMH and LHEP presented a larger external diameter (p = 0.001) and thinner floors (p = 0.018). Twenty-seven (81.8%) of the patients with LMH and LHEP presented a degenerative intraretinal cavitation, compared to 23.3% in the non-LHEP group (p = 0.001). No differences were observed in visual performance or closure rate between the 2 groups after surgery or in the subset of patients followed conservatively. CONCLUSIONS: LHEP was correlated with the anatomical conformation of the LMH, yielding thinner floors and larger external diameters. However, it did not correlate with the anatomical or functional results, both in the patients who underwent surgery and in those managed conservatively.
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Membrana Epirretinal/etiología , Perforaciones de la Retina/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Membrana Epirretinal/diagnóstico por imagen , Membrana Epirretinal/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Pronóstico , Perforaciones de la Retina/diagnóstico por imagen , Perforaciones de la Retina/cirugía , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Agudeza Visual/fisiología , VitrectomíaRESUMEN
PURPOSE: To investigate the influence of the vitreoretinal interface on the outcomes of different ranibizumab regimens for exudative age-related macular degeneration. METHODS: We conducted a retrospective subanalysis of 2 prospective clinical trials. Patients were treated with ranibizumab for 12 months according to 3 different regimens: pro-re-nata (PRN), treat and extend (T&E), and monthly. Vitreoretinal interface was assessed for absence (group ON) or presence (group OFF) of posterior vitreous detachment (PVD). RESULTS: We included 64 eyes from 64 patients. Visual improvement was poorer for group ON (0.3 ± 10.7 letters) than for group OFF (9.2 ± 13.3; p = 0.007). A significant difference in letters of improvement between groups was observed in the PRN cohort (ON: -5.0 ± 12.9; OFF: 11.4 ± 11.9; p = 0.003), but not in the cohorts with monthly (ON: 5.7 ± 7.8; OFF: 7.9 ± 15.2; p = 0.735) or T&E (ON: 4.3 ± 4.3; OFF: 7.8 ± 11.1; p = 0.424) treatment. CONCLUSION: The negative impact of absence of PVD is regimen dependent, with monthly dosing providing similar outcomes to PVD patients. In the absence of PVD (group ON), PRN should be avoided, and T&E might be an alternative.
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Inhibidores de la Angiogénesis/uso terapéutico , Ranibizumab/uso terapéutico , Retina/fisiopatología , Cuerpo Vítreo/fisiopatología , Desprendimiento del Vítreo/fisiopatología , Degeneración Macular Húmeda/tratamiento farmacológico , Anciano , Exudados y Transudados , Femenino , Adhesiones Focales/fisiología , Humanos , Inyecciones Intravítreas , Masculino , Estudios Prospectivos , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual/fisiología , Degeneración Macular Húmeda/diagnóstico por imagen , Degeneración Macular Húmeda/fisiopatologíaRESUMEN
INTRODUCTION: We conducted a multimodal, cross-sectional evaluation. METHODS: Eyes were divided into 4 study groups: controls, early/intermediate age-related macular degeneration (AMD), fellow eyes of retinal angiomatous proliferation (RAP), and RAP eyes. Patients were evaluated with spectral-domain optical coherence tomography (OCT), enhanced depth imaging-OCT, and OCT angiography (OCTA). OCTA images were processed to generate maps of the vessel density and perfusion density of the superficial and deep retinal layers (SRL and DRL) and the choriocapillaris level (CL). The thickness of the outer nuclear layer and choroid was manually assessed. RESULTS: We included 135 eyes of 100 patients (51 controls, 30 AMD, 42 RAP, and 12 fellow eyes). The fellow eyes showed a significantly lower vascular perfusion of the SRL, DRL, and CL (p < 0.02) than the early/intermediate AMD and control eyes did. Similarly, RAP eyes presented a lower vascular perfusion of the DRL and CL (p < 0.05). Besides, structural analyses of the fellow eyes and RAP eyes revealed a significantly higher prevalence of macular pigmentary changes, atrophy of the retinal pigment epithelium, hyperreflective "clumps" above flat drusen, amongst others, than early/intermediate AMD and control eyes (p < 0.05). CONCLUSION: We present the first report on the OCTA analysis of the fellow eye of patients with RAP. The reduced perfusion density and vessel density observed contributes, in association with clearly defined structural changes, to a wider characterization of RAP as a distinctive phenotype.
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Degeneración Macular/patología , Neovascularización Retiniana/patología , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Neovascularización Coroidal/patología , Estudios Transversales , Femenino , Angiografía con Fluoresceína , Humanos , Degeneración Macular/diagnóstico por imagen , Pigmento Macular/análisis , Masculino , Persona de Mediana Edad , Imagen Multimodal , Drusas Retinianas/patología , Neovascularización Retiniana/diagnóstico por imagen , Epitelio Pigmentado de la Retina/patología , Vasos Retinianos/diagnóstico por imagen , Tomografía de Coherencia ÓpticaRESUMEN
AIM: Evaluate the real-life experience with ocriplasmin on vitreomacular traction (VMT) release and full-thickness macular hole (FTMH) closure in Portugal. METHODS: Multicentric, retrospective study of 83 eyes of 78 patients who were treated with intravitreal ocriplasmin for VMT with and without FTMH. Primary outcomes were VMT release and FTMH closure. Secondary outcomes included visual acuity changes and structural features on spectral-domain ocular coherence tomography. RESULTS: VMT resolved in 47 of the 83 eyes (56.6%) and 6 of the 12 FTMH were closed (50.0%). Mean best-corrected visual acuity (BCVA) improved from 65.1 at baseline to 70.8 ETDRS letters at the end of follow-up (p < 0.0001) with a mean follow-up of 138.8 days. Improvement in BCVA was significantly better in eyes with VMT release (p = 0.021). Approximately 73% of patients had normal ellipsoid zone integrity at the end of follow-up, 87% had no neurosensorial detachment and 40% had no intra- or subretinal fluid. CONCLUSION: VMT release and FTMH closure were achieved in more than half of the treated eyes and were correlated with significant BCVA improvements and favorable baseline characteristics. In fact, if a careful patient selection is carried out, VMT resolution with ocriplasmin can be optimized, tailoring the best approach to each patient.
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Fibrinolisina/administración & dosificación , Fragmentos de Péptidos/administración & dosificación , Tomografía de Coherencia Óptica/métodos , Desprendimiento del Vítreo/tratamiento farmacológico , Anciano , Femenino , Estudios de Seguimiento , Humanos , Inyecciones Intravítreas , Masculino , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento , Agudeza Visual , Desprendimiento del Vítreo/diagnóstico , Desprendimiento del Vítreo/fisiopatologíaRESUMEN
OBJECTIVE: To assess the possible correlation between patients' personality traits and subjective perception of quality of vision (QoV), after multifocal intraocular lens (mIOL) implantation. METHODS: patients who had bilateral implantation of a non-diffractive X-WAVE or a trifocal lens were assessed 6 months postoperatively. Patients answered the NEO-Five Factor Inventory (NEO-FFI-20) questionnaire ("Big Five five-factor personality model") to examine their personality. Six months following surgery, patients were asked to fill a QoV questionnaire where they graded the frequency of 10 common visual symptoms. Primary outcomes were to evaluate the correlation between personality scores and the reported frequency of visual disturbances. RESULTS: The study comprised 20 patients submitted to bilateral cataract surgery, 10 with a non-diffractive X-WAVE lens (AcrySof® IQ Vivity) and 10 with a trifocal lens (AcrySof® IQ PanOptix). Mean age was 60.23 (7.06) years. Six months following surgery, patients with lower scores of conscientiousness and extroversion reported a higher frequency of visual disturbances (blurred vision, P = .015 and P = .009, seeing double images P = .018 and P = .006, and having difficulties focusing, P = .027 and P = .022, respectively). In addition, patients with high neuroticism scores had more difficulty focusing (P = .033). CONCLUSIONS: In this study, personality traits such as low conscientiousness and extroversion and high neuroticism significantly influenced QoV perception 6 months after bilateral multifocal lens implantation. Patients' personality questionnaires could be a useful preoperative assessment test to a mIOL.
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Lentes Intraoculares , Lentes Intraoculares Multifocales , Facoemulsificación , Humanos , Persona de Mediana Edad , Implantación de Lentes Intraoculares/métodos , Agudeza Visual , Satisfacción del Paciente , Personalidad , Diseño de Prótesis , Refracción OcularRESUMEN
PURPOSE: To evaluate prediction accuracy of formulas included in the ESCRS-Online-IOL-Calculator using standard keratometry (K) or total keratometry (TK). SETTING: Hospital-based academic practice. DESIGN: Retrospective case-series. METHODS: Participants: 523 cataract patients (523 eyes). Outcome Measures: trimmed-means of the spherical equivalent prediction error (SEQ-PE, trueness), precision and absolute SEQ-PE (accuracy) of all seven formulas available on the ESCRS-Online-IOL-Calculator as well as the mean (Mean-All) and median (Median-All) of the predicted SEQ refraction of all formulas. Sub-group analyses evaluated the effect of axial length on formula accuracy. RESULTS: Trimmed-mean SEQ-PE range of all formulas varied from -0.075 to +0.071D for K-based and from -0.003 to +0.147D for TK-based calculations, with TK-based being more hyperopic in all formulas (p<0.001). Precision ranged from 0.210 to 0.244D for both K-based and TK-based calculations. Absolute SEQ-PE ranged from 0.211 to 0.239D for K-based and from 0.218 to 0.255D for TK-based calculations. All formulas, including Mean-All and Median-All, showed high accuracy with 84-90% of eyes having SEQ-PEs within 0.50D.Myopic trimmed-mean SEQ-PEs significantly different from zero were observed in long eyes for Pearl DGS (-0.110D, p=0.005), Hill RBF (-0.120D, p<0.001) and Hoffer QST (-0.143D, p=0.001), and in short eyes for EVO 2.0 (-0.252D, p=0.001), Kane (-0.264D, p=0.001), Hoffer QST (-0.302D, p<0.001), Mean-All (-0.122D, p=0.038) and Median-All (-0.125D, p=0.043). CONCLUSION: Prediction accuracy of all ESCRS IOL Calculator formulas was high and globally comparable. TK-based calculations did not increase prediction accuracy and tended towards hyperopia. Observations indicating formula superiority in long and short eyes merit further evaluation.
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PURPOSE: To describe the natural history, genetic landscape, and phenotypic spectrum of Eyes shut homolog (EYS)-associated retinal degeneration (EYS-RD). DESIGN: Retrospective, single-center cohort study complemented by a cross-sectional examination. SUBJECTS: Patients with biallelic EYS variants were recruited at an inherited RD referral center in Portugal. METHODS: Every patient underwent a cross-sectional examination comprising a comprehensive ophthalmic examination including best-corrected visual acuity (BCVA), dilated slit-lamp anterior segment, and fundus biomicroscopy; ultrawide-field color fundus photography and fundus autofluorescence imaging; and spectral domain-OCT. In the setting of a retinitis pigmentosa (RP) diagnosis, every patient was classified as typical or atypical RP according to imaging criteria. Baseline demographics, age at onset of symptoms, family history, history of consanguinity, symptoms, age at diagnosis, BCVA at baseline and throughout follow-up, and EYS variants were collected from each individual patient file. MAIN OUTCOME MEASURES: Clinical/demographic, genetic, multimodal imaging data, and BCVA variation were compared between typical and atypical RP. Additionally, BCVA variation during follow-up was used as an endpoint to describe EYS-RD natural history. RESULTS: Fifty-eight patients (59% men; mean age 52 ± 14 years) from 48 White families of Portuguese ancestry were included. Twenty distinct EYS variants were identified, 8 of which are novel. In 32.8% of patients, onset of symptoms was in early adulthood (21-30 years). A clinical diagnosis of RP was established in 57 patients and cone-rod dystrophy in 1 patient. Regarding RP, 75.0% of the patients were graded as typical and 25.0% as atypical. Atypical EYS-RP commonly presents with inferior crescent-shaped macular atrophy with superior midperipheral sparing. In EYS-RD, a negative correlation was found between age and BCVA (r = -0.50; P < 0.001), with an average loss of 1.45 letters per year. When stratifying for RP phenotype, lower average loss of letters per year (P < 0.001), higher BCVA (P < 0.001), and larger ellipsoid zone widths (P < 0.001) were found in atypical RP. CONCLUSIONS: This study expands the genetic spectrum of EYS-RD by reporting 8 novel variants. A high frequency of atypical phenotypes was identified. These patients have better BCVA and larger ellipsoidal zone widths, thus presenting an overall better prognosis. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.
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Degeneración Retiniana , Retinitis Pigmentosa , Humanos , Degeneración Retiniana/diagnóstico , Degeneración Retiniana/genética , Estudios de Cohortes , Estudios Retrospectivos , Estudios Transversales , Mutación , Proteínas del Ojo/genética , Tomografía de Coherencia Óptica , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , FenotipoRESUMEN
BACKGROUND: During the first wave of the COVID-19 pandemic, distancing measures were enforced to reduce virus spread, which likely had an impact on the overall mental health of the population. AIMS: To investigate the prevalence of mental health outcomes (depression, anxiety and insomnia), and associated risk factors, during a physical distancing period imposed in the first wave of COVID-19. METHOD: During the first month of Portugal's state of emergency, an online survey was created and disseminated through social media channels. Sociodemographic and clinical variables were assessed via self-reported questionnaires. Univariate linear regressions were used to identify associations between the collected variables and mental health outcomes. Multivariate regression analyses were performed to identify independent risk factors for clinical outcomes, with adjustment for potential confounders. RESULTS: We analysed data from 1626 participants: a significant proportion showed depression (30.2%), anxiety (53.1%) and insomnia (36.3%) symptoms. Multivariate regression models showed that being male and working from home were protective for all mental health outcomes analysed, whereas the perception of infection, being under psychiatric care and taking medication were risk factors (P < 0.05). Days in isolation and being unemployed were risk factors for depression and insomnia (P < 0.05). Younger age and being a student were risk factors for depression, whereas being a healthcare professional was protective (P < 0.05). Indirect contact with COVID-19 was a risk factor for anxiety (P < 0.05). CONCLUSIONS: COVID-19-related distancing measures were associated with high levels of adverse mental health symptoms. Several risk factors were associated with these symptoms, which highlight the importance of identifying vulnerable groups during physical distancing periods.
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PURPOSE: To comparatively evaluate the accuracy of newer intraocular lens (IOL) calculation formulas and common third-generation formulas after Wang-Koch adjustment in the prediction of postoperative refraction in highly myopic eyes. METHODS: This was a retrospective study including eyes with high myopia that had uncomplicated cataract surgery with implantation of an AcrySof MA60MA IOL (power range: -5.00 to +5.00 diopters [D]) (Alcon Laboratories, Inc). All patients underwent optical biometry (Carl Zeiss IOLMaster 500 and IOLMaster 700, and Allegro Biograph) and the postoperative spherical equivalent for the implanted IOL was estimated using SRK/T, Holladay 1 (both Wang-Koch adjusted), Haigis, Barrett Universal II, Kane, Ladas, and Hill-RBF v2.0 formulas. Outcomes included the median absolute prediction error (MedAE) and the proportion of eyes within ±0.25, ±0.50, and ±1.00 D of the preoperative prediction. RESULTS: Eighty-two eyes with a mean axial length of 30.89 ± 1.85 mm were included. The MedAE in ascending order was Hill-RBF v2.0 0.31 D, Kane 0.33 D, Barrett 0.36 D, Holladay Iwk 0.37 D, SRK/Twk 0.37 D, Holladay Iwk 0.43 D, HaigisULIB 0.54 D, and Ladas 0.61 D. The formula with the lowest MedAE (Hill-RBF v2.0) yielded a prediction error within ±0.25, ±0.50, and ±1.00 D in 43.1%, 70.6%, and 94.1% of cases, respectively. CONCLUSIONS: Recent formulas such as Barrett Universal II, Kane, and Hill-RBF v2.0 and Wang-Koch adjusted formulas perform well in this subset of patients with high myopia. The Hill-RBF v2.0 formula had the lowest MedAE and highest proportion of eyes within ±0.25, ±0.50, and ±1.00 D of the predicted target. [J Refract Surg. 2021;37(3):207-211.].
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Lentes Intraoculares , Miopía , Facoemulsificación , Longitud Axial del Ojo , Biometría , Humanos , Implantación de Lentes Intraoculares , Miopía/cirugía , Óptica y Fotónica , Refracción Ocular , Estudios RetrospectivosRESUMEN
PURPOSE: To evaluate Microperimetry (MP) and multifocal electroretinogram (mfERG) as whole-macula functional markers of treatment response in naive diabetic macular oedema (DMO) patients undergoing ranibizumab treatment. METHODS: An exploratory sub-analysis of a prospective study (NCT01947881-CHARTRES). Patients received three monthly ranibizumab injections (loading dose) followed by pro re nata (PRN) regimen during 1 year. At baseline, during and after treatment (Months 0, 3, 6 and 12), subjects were tested using BCVA, OCT, MP and mfERG. MP was performed in the central 12°, and retinal sensitivity was measured overall (mean sensitivity (MS)), and in three concentric rings (R1-R3). mfERG P1 amplitude and implicit time were measured over six concentric rings (R1-R6). RESULTS: Thirty-two eyes were included. MP mean and rings sensitivity were significantly lower in DMO (p < 0.001). After loading dose, a significant improvement in retina sensitivity was observed, particularly in good BCVA responders (MS = +2.28 dB; R1 = +2.33 dB, R2 = +2.20 dB, R3 = +2.25 dB; p = 0.049). Overall retinal sensitivity was significantly correlated with BCVA improvement (r = 0.54; p = 0.026) and inversely correlated with OCT central subfield thickness improvement (r = -0.39; p = 0.026). mfERG amplitude and implicit time were also lower in DMO (p < 0.011). An improvement of mfERG P1 amplitude and implicit time in R1 was noted in good responders after ranibizumab loading dose (+16.49 nV/deg2; p = 0.013 and -0.005 ms; p = 0.048, respectively). When changing to PRN treatment regimen, BCVA was maintained during the 12 months of follow-up but worsening of the visual function was detected by MP and mfERG. CONCLUSIONS: Microperimetry and mfERG were able to demonstrate DMO functional improvement after treatment loading dose, as well as early visual changes when treatment regimen was switched to PRN.
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Diabetes Mellitus , Retinopatía Diabética , Edema Macular , Inhibidores de la Angiogénesis/uso terapéutico , Retinopatía Diabética/tratamiento farmacológico , Humanos , Inyecciones Intravítreas , Edema Macular/tratamiento farmacológico , Estudios Prospectivos , Ranibizumab/uso terapéutico , Retina , Tomografía de Coherencia Óptica , Agudeza Visual , Pruebas del Campo VisualRESUMEN
PURPOSE:: Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations. Herein, we present a rare case of a patient diagnosed with Alport syndrome and bilateral giant macular holes. CASE DESCRIPTION:: A 40-year-old woman with a previously unreported mutation in the COL4A4 gene suggestive of autosomal-recessive Alport syndrome presented at our department. The patient exhibited bilateral full-thickness macular holes measuring >1500 µm at their smallest diameters. The very large dimensions of both macular holes were indicative of a bad prognosis regarding hole closure, and a conservative approach was adopted. The patient was maintained on renal substitution therapy, and genetic counseling was offered to other family members. CONCLUSION:: Ophthalmological findings associated to Alport syndrome commonly include anterior lenticonus and dot-and-fleck retinopathy, although giant macular holes can also be associated with this condition. A multidisciplinary approach is crucial in the management of these patients, as Alport syndrome is an inherited systemic basement membrane disease.
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Nefritis Hereditaria/diagnóstico , Perforaciones de la Retina/diagnóstico , Adulto , Colágeno Tipo IV/genética , Femenino , Asesoramiento Genético , Humanos , Mutación , Nefritis Hereditaria/genética , Enfermedades Raras , Terapia de Reemplazo Renal , Tomografía de Coherencia ÓpticaRESUMEN
PURPOSE: Chronic relapsing inflammatory optic neuropathy (CRION) is a type of idiopathic recurrent optic neuritis that responds to systemic corticosteroids and relapses on steroid withdrawal or dose reduction. Central serous chorioretinopathy (CSCR) is often associated with glucocorticoid therapy. This paper aims to highlight CSCR as a cause of visual loss in patients being treated with corticosteroids for optic neuritis. OBSERVATIONS: We describe the case of a 42-year-old woman with a history of CRION in her left eye who presented with painful vision loss in the right eye and diffuse right optic disc edema. Steroid therapy was initiated, leading to visual and perimetric improvement. Two months later however, the patient returned with painless visual loss, now related to CSCR. Despite oral steroids being continued, there was spontaneous tomographic and visual recovery after four months. CONCLUSIONS AND IMPORTANCE: We believe this is the first report of CSCR causing vision loss in a patient with CRION treated with oral corticosteroids. CSCR should be suspected in patients with optic neuritis of any cause who develop vision loss while on treatment with steroids.
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PURPOSE: To report a case of Purtscher retinopathy imaged with optical coherence tomography angiography. METHODS: Case-report. Left eye fundoscopic examination in a 21-year old male after a road traffic accident with chest compression revealed multiple peri-papillary cotton-wool spots and intra- and pre-retinal hemorrhages. A diagnosis of Purtscher retinopathy was assumed. RESULTS: In both the superficial and deep retinal plexuses, acute stage optical coherence tomography angiography identified multiple irregular areas of capillary non-perfusion that extended beyond the clinically visible peri-papillary cotton-wool spots. At 5-month follow-up, despite the clearing of visible cotton-wool spots, there were still permanent areas of irregular capillary non-perfusion and inner retina atrophy. These sequelae, along with a decrease in the peri-papillary retinal nerve fiber layer thickness, were consistent with a suboptimal visual outcome and a dense inferior arcuate scotoma. CONCLUSION: Baseline and follow-up optical coherence tomography angiography was able to detect, quantify, and map focal microvascular abnormalities at the level of the superficial and deep inner retinal vascular plexuses. These lesions were consistent with late stage structural and functional sequelae, conferring them prognostic value.
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Angiografía con Fluoresceína/métodos , Retina/patología , Enfermedades de la Retina/diagnóstico , Vasos Retinianos/patología , Tomografía de Coherencia Óptica/métodos , Capilares/patología , Estudios de Seguimiento , Fondo de Ojo , Humanos , Masculino , Adulto JovenRESUMEN
OBJECTIVES: This study aimed to characterize the association of lifestyle and nutritional risk profiles with age-related macular degeneration (AMD) in two subpopulations with differing AMD prevalence. METHODS: This case-control study (n = 1992) included 768 patients with AMD and 1224 age- and sex-matched participants without AMD with a single visit at a primary health care unit. Enrolled participants completed a validated lifestyle and food frequency questionnaire. A score to measure adherence to the Mediterranean diet (mediSCORE; Range, 0-9) was constructed from individual food intakes, which were further analyzed by conversion to nutrient consumption. RESULTS: Higher adherence to the Mediterranean diet (mediSCORE ≥6) was significantly associated with no AMD (odds ratio [OR] = 0.73; P = 0.009). The subpopulation with lower AMD prevalence presented significantly higher adherence to the Mediterranean diet in relation to all individual food groups that comprised the mediSCORE (P < 0.014) with the exception of cereals. Food group analysis showed significant associations between the increased consumption of vegetables (OR = 0.63; P < 0.001) and fruit and nuts (OR = 0.78; P = 0.010) with no AMD. Nutrient analysis revealed that an increased ingestion of water, fibers, total fat, monounsaturated and polyunsaturated fatty acids, linoleic acid, vitamins A and C, carotene, alpha-tocopherol, folate, magnesium, iron, and zinc were significantly associated with no AMD (P < 0.0013). Finally, regular physical activity was associated with no AMD (P = 0.003). CONCLUSIONS: High adherence to a Mediterranean diet and regular physical activity seem to be protective factors for AMD in a Portuguese population. The effect of the diet is likely driven by the increased consumption of vegetables, fruits, and nuts.
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Dieta Mediterránea/estadística & datos numéricos , Evaluación Geriátrica/estadística & datos numéricos , Estilo de Vida , Degeneración Macular/epidemiología , Cooperación del Paciente/estadística & datos numéricos , Anciano , Estudios de Casos y Controles , Estudios Transversales , Ejercicio Físico , Femenino , Humanos , Degeneración Macular/prevención & control , Masculino , Portugal/epidemiología , PrevalenciaRESUMEN
PURPOSE: To characterize the lifestyle and nutritional risk profile associated with the Mediterranean diet in a Portuguese population with and without age-related macular degeneration (AMD). METHODS: Nested case-control study (n = 883) within the Coimbra Eye Study, including 434 subjects with AMD and 449 age- and sex-matched subjects without AMD. All enrolled subjects underwent a full risk assessment, including lifestyle-related risk factors and a thorough food frequency questionnaire. This allowed us to build an adherence score to the Mediterranean diet (mediSCORE, range 0-9) constructed from individual food intakes. Food intake was also further analysed by conversion to micronutrient consumption. RESULTS: Our results suggest that physical activity has a protective role in AMD [p = 0.018 after multivariate adjustment, OR: 0.69 (0.51-0.93)]. High (mediSCORE ≥6) was also found to be protective [p = 0.041, OR: 0.62 (95% CI: 0.38-0.97)]. Food group analysis unveiled a specific protective role for increased fruits consumption (p = 0.029). Finally, micronutrient analysis revealed a protective role associated with increased consumption of caffeine, fibres, beta-carotene, vitamin C and vitamin E (p < 0.05). CONCLUSION: High mediSCORE appears to confer protection against the development of AMD in a Mediterranean population. This effect is driven by increased consumption of fruits and some antioxidant micronutrients, which emerged as statistically significant protective factors. Further studies are required to establish dietary recommendations with clinical application.
Asunto(s)
Dieta Mediterránea , Estilo de Vida , Degeneración Macular/dietoterapia , Cooperación del Paciente , Vigilancia de la Población , Medición de Riesgo , Población Rural/estadística & datos numéricos , Anciano , Estudios de Casos y Controles , Estudios Transversales , Femenino , Humanos , Degeneración Macular/epidemiología , Masculino , Portugal/epidemiología , Prevalencia , Pronóstico , Factores de RiesgoRESUMEN
PURPOSE: We aimed to evaluate the ability of new psychophysical discrimination tests, based on readily available hardware, to probe motion, achromatic, and chromatic contrast sensitivity, across the natural history of glaucoma. We assessed the sensitivity of these tests to detect functional damage at ocular hypertension stage, using receiver operating characteristic analysis. We also explored whether eccentricity-related patterns of damage change with disease progression. PATIENTS AND METHODS: We studied a cohort of 43 participants, who were divided between different groups: ocular hypertension (n=16 eyes), glaucoma suspects (n=15), and primary open-angle glaucoma (n=12). These patients were compared with an age-matched control group (n=15 eyes). We tested distinct subsets of retinal ganglion cell populations using 3 novel 2-alternative forced choice psychophysical discrimination tests (independent variables: motion, achromatic, and chromatic L, M, and S-cone contrasts) between 2 separated peripheral, small moving single dots at 4 distinct meridians. Notably these tests were implemented in relatively standard hardware. RESULTS: All tests showed significant correlation with disease progression (mean ρ±SD=0.708±0.075; P<0.0001) and had sufficient power to discriminate glaucoma subgroups. Most tests using this design had large sensitivity (above 90% for 80% specificity) to detect functional damage at the ocular hypertensive stage. Disease-related eccentricity patterns of damage were also found, matching the expected pattern of progression. CONCLUSIONS: Our new psychophysical discrimination tests are capable of probing disease progression and to detect functional damage at ocular hypertension stage. It is therefore possible to customize psychophysical test software to detect early changes and monitor disease progression, including progressive loss of functional reserve, using relatively simple hardware.