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PURPOSE: The quality of visual acuity (VA) measurement in emergency department (ED) settings can be affected by patient immobility and lack of standardized testing conditions. We implemented a previously validated, novel VA chart, the Runge Sloan letter near card, in a hospital ED and evaluated its impact on frequency and consistency of VA testing. METHODS: Two hundred seventeen hospital ED ophthalmology consult records from December 1, 2016, to November 15, 2017, were evaluated in an IRB-approved protocol. Frequency of VA measurement and agreement between nonophthalmic ED technicians and ophthalmology physicians-in-training were assessed. RESULTS: Implementation of the Runge card saw missed technician VA evaluations decrease from 36% (43/120) to 21% (20/97) of ophthalmic consults (p = .01), without significant change in agreement of VA measurements. After implementation, the proportion of VA measurements differing between technicians and residents by ≤2 lines was 51%; with pinhole testing, it improved to 64% (p < .05). In patients with good VA of >20/80, pinhole increased agreement from 58% to 73% (p < .05). CONCLUSIONS: Implementation of the Runge card was associated with improved frequency of VA measurement and, when combined with pinhole testing, increased agreement rates. Our findings suggest utility of training in the use of the Runge card in ED settings.
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Servicio de Urgencia en Hospital/normas , Oftalmopatías/diagnóstico , Oftalmología/normas , Derivación y Consulta/normas , Pruebas de Visión/métodos , Pruebas de Visión/normas , Agudeza Visual , Femenino , Humanos , Masculino , Guías de Práctica Clínica como Asunto , WisconsinRESUMEN
Purpose: Aflibercept (Eylea™, Regeneron) is supplied in single-use glass vials along with 1 cc polycarbonate syringes. We sought to determine if storage of aflibercept for sustained periods within these syringes would result in loss of antivascular endothelial growth factor (anti-VEGF) activity. Methods: Aflibercept samples were drawn from commercially available glass vials into manufacturer-supplied 1-mL syringes and stored at 4°C. Anti-VEGF activity was assessed using enzyme-linked immunosorbent assays at the following storage durations: 0, 4, 9, 14, and 28 days. Frozen samples stored at -20°C for 28 and 56 days were also assayed. Also, a subset of aflibercept samples was stored and then diluted to 1:10 and progressively smaller concentrations and the assays repeated. Aggregation of aflibercept was tested using a dynamic light scattering assay. Results: There were no statistical differences in anti-VEGF activity among aflibercept samples of 1:1 or 1:10 dilution stored at either 4°C or -20°C at any of the storage intervals (P > 0.05). We also observed persistence of robust anti-VEGF activity for up to 14 days when diluted poststorage to 1:16,000, a concentration that would be expected after >7 vitreous half-lives within the eye (estimated at >50 days). No evidence of drug aggregation in specimens stored for 14 days was observed. Conclusions: Our findings support feasibility of prefilling and storage of aflibercept within manufacturer-supplied polycarbonate syringes for as long as 14 days before use under pharmacy-based sterile conditions, facilitating greater safety and efficiency in many clinics delivering anti-VEGF therapy.
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Inhibidores de la Angiogénesis/farmacología , Cemento de Policarboxilato/química , Proteínas Recombinantes de Fusión/farmacología , Factores de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Inhibidores de la Angiogénesis/efectos adversos , Inhibidores de la Angiogénesis/química , Almacenaje de Medicamentos , Humanos , Inyecciones Intravítreas , Receptores de Factores de Crecimiento Endotelial Vascular/química , Proteínas Recombinantes de Fusión/efectos adversos , Proteínas Recombinantes de Fusión/químicaRESUMEN
OBJECTIVE: We evaluated the Runge card, a near-vision eye chart designed for ease of use, by testing agreement in visual acuity results between it and the Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity chart. As a clinical reference point, we compared the Runge card and an electronic Snellen chart with respect to agreement with ETDRS results. METHODS: Participants consisted of adult eye clinic patient volunteers who underwent a protocol refraction, followed by testing with a Runge card, ETDRS chart, and Snellen chart. Mean logMAR visual acuities were calculated for each method. Agreement levels among the tests were assessed for the group overall and for subjects with good (ETDRS logMAR < 0.6; better than 20/80 Snellen equivalent) and poor (logMAR ≥ 0.6) acuity. RESULTS: One hundred and thirty-eight participants completed testing. The mean ( ± standard deviation) logMAR visual acuities (Snellen equivalent) with Runge, ETDRS, and Snellen, respectively, were 0.66 ± 0.50 (20/91, n = 138), 0.59 ± 0.51 (20/78, n = 138), and 0.67 ± 0.62 (20/94, n = 137). Runge testing agreed similarly with ETDRS and Snellen testing, with CCC 0.92 between Runge and ETDRS, and 0.87 between Runge and Snellen (p = 0.14). Runge agreed better with ETDRS than Snellen agreed with ETDRS in participants with poor acuity (CCC = 0.79 vs. 0.63, respectively, p = 0.001) but not in those with good acuity (CCC = 0.70 vs. 0.87, respectively, p = 0.005). CONCLUSION: Visual acuity measurements with the Runge near card agreed with measurements from the ETDRS to approximately the same degree as did the Snellen chart, suggesting potential utility of the Runge near card, particularly given its user-friendly characteristics and ease of use.
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Algoritmos , Atención Ambulatoria/métodos , Retinopatía Diabética/fisiopatología , Atención Primaria de Salud/métodos , Pruebas de Visión/instrumentación , Agudeza Visual , Anciano , Anciano de 80 o más Años , Diseño de Equipo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Reproducibilidad de los ResultadosRESUMEN
PURPOSE: Compare changes in retinal nerve fiber layer (RNFL) thickness between eyes assigned to intravitreous ranibizumab or panretinal photocoagulation and assess correlations between changes in RNFL and visual field sensitivity and central subfield thickness. METHODS: Eyes with proliferative diabetic retinopathy were randomly assigned to ranibizumab or panretinal photocoagulation. Baseline and annual follow-up spectral domain optical coherence tomography RNFL imaging, optical coherence tomography macular imaging, and automated static perimetry (Humphrey visual field 60-4 algorithm) were performed. RESULTS: One hundred forty-six eyes from 120 participants were analyzed. At 2 years, for the ranibizumab (N = 74) and panretinal photocoagulation (N = 66) groups, respectively, mean change in average RNFL thickness was -10.9 ± 11.7 µm and -4.3 ± 11.6 µm (difference, -4.9 µm; 95% confidence interval [-7.2 µm to -2.6 µm]; P < 0.001); the correlation between change in RNFL thickness and 60-4 Humphrey visual field mean deviation was -0.27 (P = 0.07) and +0.33 (P = 0.035); the correlation between change in RNFL thickness and central subfield thickness was +0.63 (P < 0.001) and +0.34 (P = 0.005), respectively. CONCLUSION: At 2 years, eyes treated with ranibizumab had greater RNFL thinning than eyes treated with panretinal photocoagulation. Correlations between changes in RNFL thickness, visual field, and central subfield thickness suggest that the decrease in RNFL thickness with ranibizumab is likely due to decreased edema rather than loss of axons.
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Retinopatía Diabética/terapia , Coagulación con Láser/métodos , Fibras Nerviosas/patología , Ranibizumab/administración & dosificación , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Campos Visuales/fisiología , Adulto , Inhibidores de la Angiogénesis/administración & dosificación , Retinopatía Diabética/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Disco Óptico/patología , Estudios Retrospectivos , Resultado del Tratamiento , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza VisualRESUMEN
OBJECTIVE: Previous work using adaptive optics scanning light ophthalmoscopy (AOSLO) imaging has shown photoreceptor disruption to be a common finding in head and ocular trauma patients. Here an expanded trauma population was examined using a novel imaging technique, split-detector AOSLO, to assess remnant cone structure in areas with significant disruption on confocal AOSLO imaging and to follow photoreceptor changes longitudinally. METHODS AND ANALYSIS: Eight eyes from seven subjects with head and/or ocular trauma underwent imaging with spectral domain optical coherence tomography, confocal AOSLO and split-detector AOSLO to assess foveal and parafoveal photoreceptor structure. RESULTS: Confocal AOSLO imaging revealed hyporeflective foveal regions in two of eight eyes. Split-detector imaging within the hyporeflective confocal areas showed both remnant and absent inner-segment structure. Both of these eyes were imaged longitudinally and showed variation of the photoreceptor mosaic over time. Four other eyes demonstrated subclinical regions of abnormal waveguiding photoreceptors on multimodal AOSLO imagery but were otherwise normal. Two eyes demonstrated normal foveal cone packing without disruption. CONCLUSION: Multimodal imaging can detect subtle photoreceptor abnormalities not necessarily detected by conventional clinical imaging. The addition of split-detector AOSLO revealed the variable condition of inner segments within confocal photoreceptor disruption, confirming the usefulness of dual-modality AOSLO imaging in assessing photoreceptor structure and integrity. Longitudinal imaging demonstrated the dynamic nature of the photoreceptor mosaic after trauma. Multimodal imaging with dual-modality AOSLO improves understanding of visual symptoms and photoreceptor structure changes in patients with head and ocular trauma.
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PURPOSE: To describe visual outcome and prognostic indicators in neovascular age-related macular degeneration with advanced visual loss at the initiation of anti-vascular endothelial growth factor therapy. METHODS: A retrospective chart review was performed on a consecutive series of 1,410 patients with neovascular age-related macular degeneration treated with anti-vascular endothelial growth factor therapy at the Medical College of Wisconsin. Subjects were included if at the initiation of therapy they had 20/200 or worse visual acuity (VA) with no other visually limiting eye disease and a minimum follow-up of 6 months. The change in VA at 6 months and 12 months was assessed compared with baseline. Visual improvement/worsening was defined as at least ± 0.3 logMAR (equivalent to 15 ETDRS [Early Treatment Diabetic Retinopathy Study] letters) change. Other factors for analysis included number of injections received, drug type, and various clinical and imaging findings. RESULTS: One hundred thirty-one cases met the study criteria, and 97 were followed for 12 months. Baseline VA was 1.38 logMAR (20/480 Snellen equivalent). Mean VA change (logMAR) consisted of an improvement of 0.23 (P < 0.0001) at 6 months and 0.17 (P = 0.003) at 12 months. At 12 months, VA improved in 45% and worsened in 20%. Among subjects with baseline VA worse than 20/400, VA improved in 57% and worsened in 20%. On univariate analysis at either the 6 months or 12 months follow-up, visual improvement was associated with retinal hemorrhage (P = 0.03) and subretinal fluid (P = 0.02), whereas visual worsening was associated with retinal pigment epithelial detachment (P = 0.04) and intraretinal fluid (P = 0.01). With multivariate analysis, visual improvement was predicted by both a larger number of injections received (P = 0.001) and a poorer baseline VA (P = 0.001). Injection medication type did not influence outcome. CONCLUSION: Statistically significant visual improvement was observed in association with anti-vascular endothelial growth factor therapy in patients with severe neovascular age-related macular degeneration, even in patients whose initial VA was worse than that studied in large anti-vascular endothelial growth factor clinical trials. Numerous clinically discernable or potentially modifiable factors may influence outcome in such patients.
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Inhibidores de la Angiogénesis/uso terapéutico , Ceguera/etiología , Neovascularización Coroidal/tratamiento farmacológico , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Degeneración Macular Húmeda/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Bevacizumab/uso terapéutico , Ceguera/tratamiento farmacológico , Neovascularización Coroidal/complicaciones , Femenino , Estudios de Seguimiento , Humanos , Inyecciones Intravítreas , Masculino , Análisis Multivariante , Pronóstico , Ranibizumab/uso terapéutico , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Estudios Retrospectivos , Agudeza Visual , Degeneración Macular Húmeda/complicacionesRESUMEN
PURPOSE: The Rapid Access Vitreal Injection (RAVI) guide combines the function of an eyelid speculum and measuring caliper into a single instrument for assisting intravitreal injections. This study clinically evaluated the RAVI guide with respect to patient acceptance, complication rates, and operative goals. METHODS: A prospective study was performed on 54 patients undergoing intravitreal injections using the RAVI guide (n = 32) or the speculum/caliper (n = 22). Device-related pain was assessed using the Wong-Baker scoring system, scaled from 0 (no pain) to 10 (agonizing pain). RESULTS: Mean device-related pain score did not differ significantly between the 2 groups, with scores of 0.6 and 0.7 for the RAVI guide and speculum groups, respectively. The rate of significant pain (score of ≥2) was twice as high in the speculum group (7 of 22, 32%) compared with the RAVI guide group (5 of 32, 16%), but this difference was not statistically significant (P = 0.19, Fisher's exact test). Operative goals of avoiding needle touch to lashes/lids and guiding needle insertion to the intended site were achieved in all patients. CONCLUSION: The RAVI guide appeared equivalent to the eyelid speculum in achieving operative goals, with similarly low pain scores. It has the potential for facilitating efficient, accurate, and safe intravitreal injections.
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Inyecciones Intravítreas/métodos , Adulto , Femenino , Humanos , Inyecciones Intravítreas/instrumentación , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Satisfacción del Paciente , Estudios ProspectivosRESUMEN
PURPOSE: The purpose of this study was to examine cone photoreceptor structure in retinitis pigmentosa (RP) and Usher syndrome using confocal and nonconfocal split-detector adaptive optics scanning light ophthalmoscopy (AOSLO). METHODS: Nineteen subjects (11 RP, 8 Usher syndrome) underwent ophthalmic and genetic testing, spectral-domain optical coherence tomography (SD-OCT), and AOSLO imaging. Split-detector images obtained in 11 subjects (7 RP, 4 Usher syndrome) were used to assess remnant cone structure in areas of altered cone reflectivity on confocal AOSLO. RESULTS: Despite normal interdigitation zone and ellipsoid zone appearance on OCT, foveal and parafoveal cone densities derived from confocal AOSLO images were significantly lower in Usher syndrome compared with RP. This was due in large part to an increased prevalence of non-waveguiding cones in the Usher syndrome retina. Although significantly correlated to best-corrected visual acuity and foveal sensitivity, cone density can decrease by nearly 38% before visual acuity becomes abnormal. Aberrantly waveguiding cones were noted within the transition zone of all eyes and corresponded to intact inner segment structures. These remnant cones decreased in density and increased in diameter across the transition zone and disappeared with external limiting membrane collapse. CONCLUSIONS: Foveal cone density can be decreased in RP and Usher syndrome before visible changes on OCT or a decline in visual function. Thus, AOSLO imaging may allow more sensitive monitoring of disease than current methods. However, confocal AOSLO is limited by dependence on cone waveguiding, whereas split-detector AOSLO offers unambiguous and quantifiable visualization of remnant cone inner segment structure. Confocal and split-detector thus offer complementary insights into retinal pathology.
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Fóvea Central/patología , Oftalmoscopía/métodos , Células Fotorreceptoras de Vertebrados/patología , Retinitis Pigmentosa/diagnóstico , Tomografía de Coherencia Óptica/métodos , Síndromes de Usher/diagnóstico , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Agudeza Visual , Adulto JovenRESUMEN
PURPOSE: To demonstrate a method for correlating photoreceptor mosaic structure with optical coherence tomography (OCT) and microperimetry findings in patients with Stargardt disease. METHODS: A total of 14 patients with clinically diagnosed Stargardt disease were imaged using confocal and split-detection adaptive optics scanning light ophthalmoscopy. Cone photoreceptors were identified manually in a band along the temporal meridian. Resulting values were compared to a normative database (n = 9) to generate cone density deviation (CDD) maps. Manual measurement of outer nuclear layer plus Henle fiber layer (ONL+HFL) thickness was performed, in addition to determination of the presence of ellipsoid zone (EZ) and interdigitation zone (IZ) bands on OCT. These results, along with microperimetry data, were overlaid with the CDD maps. RESULTS: Wide variation in foveal structure and CDD maps was seen within this small group. Disruption of ONL+HFL and/or IZ band was seen in all patients, with EZ band preservation in regions with low cone density in 38% of locations analyzed. Normality of retinal lamellar structure on OCT corresponded with cone density and visual function at 50/78 locations analyzed. Outer retinal tubulations containing photoreceptor-like structures were observed in 3 patients. CONCLUSIONS: The use of CDD color-coded maps enables direct comparison of cone mosaic local density with other measures of retinal structure and function. Larger normative datasets and improved tools for automation of image alignment are needed. TRANSLATIONAL RELEVANCE: The approach described facilitates comparison of complex multimodal data sets from patients with inherited retinal degeneration, and can be expanded to incorporate other structural imaging or functional testing.
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BACKGROUND AND OBJECTIVE: To evaluate the safety and efficacy of a blunt sub-Tenon's cannula for local anesthesia before vitreoretinal surgery compared to a sharp retrobulbar needle. PATIENTS AND METHODS: Retrospective, comparative study of all patients undergoing vitreoretinal surgery at the Medical College of Wisconsin between August 2009 and November 2013. Institutional review board approval was obtained. RESULTS: Of 940 surgeries performed with a sub-Tenon's cannula, 99% (938 of 940) were completed. Of the 771 surgeries performed with a sharp retrobulbar needle, 99% (770 of 771) were completed. Factors associated with use of a sharp retrobulbar needle over sub-Tenon's cannula were presence of prior scleral buckle (P < .01) and inclusion of scleral buckle placement in the procedure (P < .01). No case of globe perforation, severe retrobulbar hemorrhage, or severe conjunctival chemosis was observed in either group. CONCLUSION: Blunt sub-Tenon's cannula appears as effective and safe as a sharp retrobulbar needle for local anesthesia during vitreoretinal surgery. Vitreoretinal surgeons may wish to consider a blunt sub-Tenon's cannula for local surgical anesthesia.
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Anestesia Local/instrumentación , Anestésicos Locales/administración & dosificación , Catéteres , Agujas , Cirugía Vitreorretiniana , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Anestesia Local/métodos , Femenino , Humanos , Lidocaína/administración & dosificación , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Cápsula de Tenon/efectos de los fármacos , Adulto JovenRESUMEN
PURPOSE: To compare images of photoreceptor layer disruptions obtained with optical coherence tomography (OCT) and adaptive optics scanning light ophthalmoscopy (AOSLO) in a variety of pathologic states. METHODS: Five subjects with photoreceptor ellipsoid zone disruption as per OCT and clinical diagnoses of closed-globe blunt ocular trauma (n = 2), macular telangiectasia type 2 (n = 1), blue-cone monochromacy (n = 1), or cone-rod dystrophy (n = 1) were included. Images were acquired within and around photoreceptor lesions using spectral domain OCT, confocal AOSLO, and split-detector AOSLO. RESULTS: There were substantial differences in the extent and appearance of the photoreceptor mosaic as revealed by confocal AOSLO, split-detector AOSLO, and spectral domain OCT en face view of the ellipsoid zone. CONCLUSION: Clinically available spectral domain OCT, viewed en face or as B-scan, may lead to misinterpretation of photoreceptor anatomy in a variety of diseases and injuries. This was demonstrated using split-detector AOSLO to reveal substantial populations of photoreceptors in areas of no, low, or ambiguous ellipsoid zone reflectivity with en face OCT and confocal AOSLO. Although it is unclear if these photoreceptors are functional, their presence offers hope for therapeutic strategies aimed at preserving or restoring photoreceptor function.
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Defectos de la Visión Cromática/diagnóstico , Lesiones Oculares/diagnóstico , Células Fotorreceptoras de Vertebrados/patología , Telangiectasia Retiniana/diagnóstico , Retinitis Pigmentosa/diagnóstico , Tomografía de Coherencia Óptica , Heridas no Penetrantes/diagnóstico , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oftalmoscopía , Retina/lesiones , Escotoma/diagnóstico , Agudeza Visual/fisiología , Adulto JovenAsunto(s)
Retinopatía Diabética/complicaciones , Edema Macular/complicaciones , Desprendimiento de Retina/etiología , Vasos Retinianos/patología , Retinopatía Diabética/diagnóstico , Retinopatía Diabética/fisiopatología , Femenino , Angiografía con Fluoresceína , Humanos , Edema Macular/diagnóstico , Edema Macular/fisiopatología , Persona de Mediana Edad , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/fisiopatología , Líquido Subretiniano , Tomografía de Coherencia Óptica , Agudeza Visual/fisiologíaRESUMEN
Incontinentia pigmenti (IP) is a rare syndrome with skin lesions, ocular abnormalities in the retina and elsewhere, central nervous system abnormalities, and teeth defects. The authors present an updated review of the literature, highlighting diagnosis, epidemiology, pathophysiology, clinical features, and management of IP. IP is an X-linked dominant syndrome with an incidence of 0.0025%; most patients are female. IP is caused by a mutation in the IKBKG gene, causing a loss of function of NF-κß, leaving cells susceptible to apoptosis from intrinsic factors. The cardinal feature of IP is four stages of skin distinctive lesions. Of those with IP, 36.5% have detectable eye pathology and 60% to 90% of those have retinal issues. Peripheral avascularity and macular occlusive disease commonly occur. The authors performed a comprehensive review of Medline from 1947 to 2014. All papers mentioning IP in ophthalmologic journals were reviewed as well as applicable publications from other medical specialties.
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Incontinencia Pigmentaria , Enfermedades de la Retina , Humanos , Quinasa I-kappa B/genética , Incidencia , Incontinencia Pigmentaria/diagnóstico , Incontinencia Pigmentaria/epidemiología , Incontinencia Pigmentaria/fisiopatología , Mutación , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/epidemiología , Enfermedades de la Retina/fisiopatología , Factores SexualesRESUMEN
PURPOSE: To evaluate sensitivity, specificity and reproducibility of colour difference plot analysis (CDPA) of 103 hexagon multifocal electroretinogram (mfERG) in detecting established hydroxychloroquine (HCQ) retinal toxicity. METHODS: Twenty-three patients taking HCQ were divided into those with and without retinal toxicity and were compared with a control group without retinal disease and not taking HCQ. CDPA with two masked examiners was performed using age-corrected mfERG responses in the central ring (Rc ; 0-5.5 degrees from fixation) and paracentral ring (Rp ; 5.5-11 degrees from fixation). An abnormal ring was defined as containing any hexagons with a difference in two or more standard deviations from normal (colour blue or black). RESULTS: Categorical analysis (ring involvement or not) showed Rc had 83% sensitivity and 93% specificity. Rp had 89% sensitivity and 82% specificity. Requiring abnormal hexagons in both Rc and Rp yielded sensitivity and specificity of 83% and 95%, respectively. If required in only one ring, they were 89% and 80%, respectively. In this population, there was complete agreement in identifying toxicity when comparing CDPA using Rp with ring ratio analysis using R5/R4 P1 ring responses (89% sensitivity and 95% specificity). Continuous analysis of CDPA with receiver operating characteristic analysis showed optimized detection (83% sensitivity and 96% specificity) when ≥4 abnormal hexagons were present anywhere within the Rp ring outline. Intergrader agreement and reproducibility were good. CONCLUSIONS: Colour difference plot analysis had sensitivity and specificity that approached that of ring ratio analysis of R5/R4 P1 responses. Ease of implementation and reproducibility are notable advantages of CDPA.
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Antirreumáticos/efectos adversos , Electrorretinografía/métodos , Hidroxicloroquina/efectos adversos , Enfermedades de la Retina/inducido químicamente , Enfermedades de la Retina/diagnóstico , Adolescente , Adulto , Anciano , Artritis Reumatoide/tratamiento farmacológico , Electrorretinografía/efectos de los fármacos , Reacciones Falso Positivas , Femenino , Humanos , Lupus Eritematoso Sistémico/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Curva ROC , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Síndrome de Sjögren/tratamiento farmacológico , Adulto JovenAsunto(s)
Neovascularización Coroidal/diagnóstico , Autoevaluación Diagnóstica , Técnicas de Diagnóstico Oftalmológico/instrumentación , Degeneración Macular/diagnóstico , Autocuidado/instrumentación , Telemedicina/instrumentación , Trastornos de la Visión/diagnóstico , Progresión de la Enfermedad , Humanos , Autocuidado/métodos , Telemedicina/métodos , Agudeza Visual/fisiología , Pruebas del Campo Visual , Campos Visuales/fisiologíaAsunto(s)
Membrana Epirretinal/etiología , Complicaciones Intraoperatorias , Complicaciones Posoperatorias , Desprendimiento de Retina/etiología , Perforaciones de la Retina/etiología , Vitrectomía/efectos adversos , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/cirugía , Estudios de Seguimiento , Humanos , Recurrencia , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/cirugía , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/cirugía , Estudios Retrospectivos , Factores de Riesgo , Curvatura de la EscleróticaAsunto(s)
Inhibidores de la Angiogénesis/administración & dosificación , Guías de Práctica Clínica como Asunto , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Degeneración Macular Húmeda/diagnóstico , Degeneración Macular Húmeda/tratamiento farmacológico , Inhibidores de la Angiogénesis/economía , Anticuerpos Monoclonales Humanizados/administración & dosificación , Anticuerpos Monoclonales Humanizados/economía , Bevacizumab , Costos de los Medicamentos , Humanos , RanibizumabRESUMEN
IMPORTANCE: The diagnostic accuracy of computer detection programs has been reported to be comparable to that of specialists and expert readers, but no computer detection programs have been validated in an independent cohort using an internationally recognized diabetic retinopathy (DR) standard. OBJECTIVE: To determine the sensitivity and specificity of the Iowa Detection Program (IDP) to detect referable diabetic retinopathy (RDR). DESIGN AND SETTING: In primary care DR clinics in France, from January 1, 2005, through December 31, 2010, patients were photographed consecutively, and retinal color images were graded for retinopathy severity according to the International Clinical Diabetic Retinopathy scale and macular edema by 3 masked independent retinal specialists and regraded with adjudication until consensus. The IDP analyzed the same images at a predetermined and fixed set point. We defined RDR as more than mild nonproliferative retinopathy and/or macular edema. PARTICIPANTS: A total of 874 people with diabetes at risk for DR. MAIN OUTCOME MEASURES: Sensitivity and specificity of the IDP to detect RDR, area under the receiver operating characteristic curve, sensitivity and specificity of the retinal specialists' readings, and mean interobserver difference (κ). RESULTS: The RDR prevalence was 21.7% (95% CI, 19.0%-24.5%). The IDP sensitivity was 96.8% (95% CI, 94.4%-99.3%) and specificity was 59.4% (95% CI, 55.7%-63.0%), corresponding to 6 of 874 false-negative results (none met treatment criteria). The area under the receiver operating characteristic curve was 0.937 (95% CI, 0.916-0.959). Before adjudication and consensus, the sensitivity/specificity of the retinal specialists were 0.80/0.98, 0.71/1.00, and 0.91/0.95, and the mean intergrader κ was 0.822. CONCLUSIONS: The IDP has high sensitivity and specificity to detect RDR. Computer analysis of retinal photographs for DR and automated detection of RDR can be implemented safely into the DR screening pipeline, potentially improving access to screening and health care productivity and reducing visual loss through early treatment.
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Retinopatía Diabética/diagnóstico , Interpretación de Imagen Asistida por Computador , Fotograbar , Retina/patología , Área Bajo la Curva , Retinopatía Diabética/clasificación , Reacciones Falso Negativas , Femenino , Humanos , Edema Macular/clasificación , Edema Macular/diagnóstico , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Oftalmología/normas , Valor Predictivo de las Pruebas , Curva ROC , Derivación y Consulta , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
Pediatric cataracts are observed in 1-15 per 10,000 births with 10-25 % of cases attributed to genetic causes; autosomal dominant inheritance is the most commonly observed pattern. Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to concurrently screen all known cataract genes and to examine novel candidate factors for a disease-causing mutation in probands from 23 pedigrees affected with familial dominant cataract. Review of WES data for 36 known cataract genes identified causative mutations in nine pedigrees (39 %) in CRYAA, CRYBB1, CRYBB3, CRYGC (2), CRYGD, GJA8 (2), and MIP and an additional likely causative mutation in EYA1; the CRYBB3 mutation represents the first dominant allele in this gene and demonstrates incomplete penetrance. Examination of crystallin genes not yet linked to human disease identified a novel cataract gene, CRYBA2, a member of the ßγ-crystallin superfamily. The p.(Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance. Expression studies detected cryba2 transcripts during early lens development in zebrafish, supporting its role in congenital disease. Our data highlight the extreme genetic heterogeneity of dominant cataract as the eleven causative/likely causative mutations affected nine different genes, and the majority of mutant alleles were novel. Furthermore, these data suggest that less than half of dominant cataract can be explained by mutations in currently known genes.