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1.
Ophthalmic Res ; 66(1): 727-748, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36878196

RESUMEN

INTRODUCTION: The aim of this study was to evaluate the current management of RPE65 biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of voretigene neparvovec (VN, LuxturnaTM) in 2018. By July 2022, over 200 patients have been treated outside the USA, of whom about 90% in Europe. We conducted among all centers of the European Vision Institute Clinical Research Network (EVICR.net) and health care providers (HCPs) of the European Reference Network dedicated to Rare Eye Diseases (ERN-EYE) the second multinational survey on management of IRDs in Europe elaborated by EVICR.net with a special focus on RPE65-IRD. METHODS: An electronic survey questionnaire with 48 questions specifically addressing RPE65-IRD (2019 survey 35) was developed and sent by June 2021 to 95 EVICR.net centers and 40 ERN-EYE HCPs and affiliated members. Of note, 11 centers are members of both networks. Statistical analysis was performed with Excel and R. RESULTS: The overall response rate was 44% (55/124); 26 centers follow RPE65 biallelic mutation-associated IRD patients. By June 2021, 8/26 centers have treated 57 RPE65-IRD cases (1-19/center, median 6) and 43 planned for treatment (range 0-10/center, median 6). The overall age range was 3-52 years, and on average 22% of the patients did not (yet) qualify for treatment (range 2-60%/center, median 15%). Main reasons were too advanced (range 0-100, median 75%) or mild disease (range 0-100, median 0). Eighty-three percent of centers (10/12) that follow RPE65 mutation-associated IRD patients treated with VN participate in the PERCEIVE registry (EUPAS31153, http://www.encepp.eu/encepp/viewResource.htm?id=37005). Quality of life and full-field stimulus test improvements had the highest scores of the survey-reported outcome parameters in VN treatment follow-up. CONCLUSION: This second multinational survey on management of RPE65-IRD by EVICR.net centers and ERN-EYE HCPs in Europe indicates that RPE65-IRD might be diagnosed more reliably in 2021 compared to 2019. By June 2021, 8/26 centers reported detailed results including VN treatment. Main reasons for non-treatment were too advanced or mild disease, followed by absence of 2 class 4 or 5 mutations on both alleles or because of a too young age. Patient satisfaction with treatment was estimated to be high by 50% of the centers.


Asunto(s)
Calidad de Vida , Degeneración Retiniana , Humanos , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Estudios de Seguimiento , Degeneración Retiniana/genética , Degeneración Retiniana/terapia , Proyectos de Investigación , Europa (Continente) , Mutación
2.
Ophthalmic Res ; 66(1): 550-568, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36592621

RESUMEN

INTRODUCTION: An increasing number of gene-specific therapies are being developed for inherited retinal degenerations (IRDs). Identification of well-characterized patients is an emerging need. We conducted the second multinational survey among the EVICR.net and ERN-EYE members to understand the management and treatment of IRDs in Europe and compared it to the 2019 survey. METHODS: An electronic survey questionnaire was developed and sent to 124 clinical centers (25 countries) by June/July 2021. Statistical analysis was performed with Excel and R. RESULTS: The overall response rate was 44% but varied among countries. Only 9% of responding centers do not see IRD patients (2019 survey 14%), 42% follow at least 200 patients per year, 18% follow 500-999, and 2% more than 1,000. Databases exist in 86% of the centers (local 86%; national web based 12%). IRD patients are referred to EVICR.net and ERN-EYE centers mainly by general ophthalmologists, patient self-referral, or medical retina specialists. Most IRD patients are first seen as adults. Signs and symptoms depend on age of onset: in infancy, nystagmus; at older age, night blindness and reduced visual field; reduced visual acuity is described at any age. Comprehensive ophthalmic examination always includes visual acuity and almost always visual field multimodal retinal imaging, electrophysiology, color vision testing, and refraction. Identification of genotypes is successful in 72% of centers in 40-80% of cases (2019 survey 69% of centers). The time for confirmation of the genetic diagnosis varies from 2-4 weeks to 24 months (2019 survey >4 weeks ≤10 years). Genetic testing is covered by public health service in 83%, private health insurance in 29%, research funds in 24%; 5% do not have access to genetic testing (2019 survey 15%). The most striking result is the high increase in the involvement of centers in natural history and gene therapy trials that more than doubled for the latter. DISCUSSION: This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increasing genotyping in diagnostic laboratories. The important increase in involvement of centers in natural history and gene therapy trials reflects the rapidly evolving field of gene therapy development. The survey provides important follow-up data for researchers, clinicians, caregivers, patient advocate groups, pharmaceutical companies, and investors.


Asunto(s)
Degeneración Retiniana , Adulto , Humanos , Degeneración Retiniana/diagnóstico , Degeneración Retiniana/genética , Degeneración Retiniana/terapia , Estudios de Seguimiento , Pruebas de Visión , Proyectos de Investigación , Europa (Continente)
3.
Int J Mol Sci ; 24(11)2023 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-37298558

RESUMEN

The disorganization of retinal inner layers (DRIL) is an optical coherence tomography (OCT) biomarker strictly associated with visual outcomes in patients with diabetic macular edema (DME) whose pathophysiology is still unclear. The aim of this study was to characterize in vivo, using retinal imaging and liquid biopsy, DRIL in eyes with DME. This was an observational cross-sectional study. Patients affected by center-involved DME were enrolled. All patients underwent spectral domain optical coherence tomography (SD-OCT) and proteomic analysis of aqueous humor (AH). The presence of DRIL at OCT was analyzed by two masked retinal experts. Fifty-seven biochemical biomarkers were analyzed from AH samples. Nineteen eyes of nineteen DME patients were enrolled. DRIL was present in 10 patients (52.63%). No statistically significant difference was found between DME eyes with and without DRIL, considering the AH concentration of all the analyzed biomarkers except for glial fibrillary acidic protein (GFAP), a biomarker of Müller cells dysfunction (p = 0.02). In conclusion, DRIL, in DME eyes, seems to strictly depend on a major dysfunction of Müller cells, explaining its role not only as imaging biomarker, but also as visual function Müller cells-related parameter.


Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Edema Macular , Humanos , Edema Macular/diagnóstico por imagen , Edema Macular/patología , Retinopatía Diabética/patología , Estudios Transversales , Células Ependimogliales/patología , Proteómica , Estudios Retrospectivos , Agudeza Visual , Angiografía con Fluoresceína/métodos , Retina/patología , Tomografía de Coherencia Óptica/métodos , Biomarcadores , Diabetes Mellitus/patología
4.
Graefes Arch Clin Exp Ophthalmol ; 259(12): 3549-3560, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34216255

RESUMEN

PURPOSE: This article aims to review the impact of detecting and quantifying intraocular biomarkers (liquid biopsy) in both aqueous and vitreous humor in eyes of people affected by diabetes mellitus. METHODS: This is a detailed review about aqueous and/or vitreous humor sampling in human diabetic eyes for proteomic and/or metabolomic analysis contributing to the understanding of the pathophysiology and treatment effects of diabetic retinopathy. RESULTS: Aqueous and vitreous humor molecular biomarkers proved to be directly correlated to each other and valuable to study retinal conditions. Moreover, proteomic and metabolomic analysis showed that the biomarkers of neuroinflammation, neurodegeneration, and vasculopathy are detectable in intraocular fluids and that their concentration changes in different stages of disease, and in response to treatment of all diabetic retinopathy aspects, mainly diabetic macular edema and proliferative retinopathy. CONCLUSIONS: Liquid biopsy offers the possibility to improve our knowledge of intraocular eye disease induced by diabetes mellitus. The exact quantification of intraocular biomarkers contributes to the precision medicine approach even in the diabetic retinopathy scenario. The diffusion of this approach should be encouraged to have quantifiable information directly from the human model, which may be coupled with imaging data.


Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Edema Macular , Humor Acuoso , Biomarcadores , Retinopatía Diabética/diagnóstico , Humanos , Biopsia Líquida , Proteómica
5.
Retina ; 41(5): 979-986, 2021 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-32833785

RESUMEN

PURPOSE: To analyze and classify neurofibromatosis Type 1 (NF1)-related retinal vascular abnormalities (RVAs), their natural history and correlation with disease severity, in a large cohort of patients. METHODS: This was an observational longitudinal study with prospective enrollment. Four hundred and seventy-three patients affected by NF1 and 150 age-matched healthy subjects were consecutively enrolled. Retinal vascular abnormalities were detected by means of near-infrared reflectance and studied by optical coherence tomography angiography. The superficial vascular plexus and the deep vascular complex (DVC) were quantitatively and qualitatively analyzed. RESULTS: We identified RVAs in 82 of 473 (17%) NF1 patients, but in none of the 150 healthy subjects. A comparison revealed that NF1 patients with RVAs showed a higher number of NF1 diagnostic criteria (4.3 ± 1.5 vs. 3.9 ±1.5, respectively; P = 0.02) than patients without RVAs. Three different RVA types were identified on optical coherence tomography angiography: macrovascular angiomatosis of the sole superficial vascular plexus; macrovascular angiomatosis of the superficial vascular plexus combined with microvascular angiomatosis of the deep vascular complex; and combined macrovascular angiomatosis of both superficial vascular plexus and deep vascular complex. The prospective analysis of optical coherence tomography angiography images showed no significant longitudinal evolution of RVAs (mean follow-up: 3.7 ± 2.8 years). A single patient developed a de novo single RVA, and two RVAs showed detectable changes during follow-up. CONCLUSION: In NF1 patients, RVAs are a characteristic sign that correlates with a more severe systemic disease expression, usually remaining stable during time. Optical coherence tomography angiography allows for the identification of different RVAs subtypes.


Asunto(s)
Angiografía con Fluoresceína/métodos , Neurofibromatosis 1/complicaciones , Vasos Retinianos/anomalías , Tomografía de Coherencia Óptica/métodos , Malformaciones Vasculares/etiología , Agudeza Visual , Adolescente , Coroides/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Fondo de Ojo , Humanos , Masculino , Estudios Prospectivos , Vasos Retinianos/diagnóstico por imagen , Factores de Tiempo , Malformaciones Vasculares/diagnóstico
6.
Retina ; 40(7): 1279-1285, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31274711

RESUMEN

PURPOSE: To analyze the macular function of eyes with macular-foveal capillaries (MFC), a condition characterized by the absence of the foveal avascular zone (FAZ), identified by optical coherence tomography angiography. METHODS: Eight eyes with MFC at optical coherence tomography angiography and normal visual acuity were consecutively recruited. Eight eyes of healthy subjects were enrolled as healthy controls. All eyes underwent optical coherence tomography, optical coherence tomography angiography, best-correct visual acuity, low-luminance visual acuity, contrast sensitivity measurement, colour vision tests, and both mesopic and scotopic microperimetry. RESULTS: Best-corrected visual acuity, low-luminance visual acuity, contrast sensitivity, and colour vision tests did not differ between the two groups. At mesopic microperimetry, both foveal retinal sensitivity and mean mesopic retinal sensitivity of the central 1° were statistically inferior in MFC versus control eyes (P < 0.0001 and P < 0.0001, respectively). At scotopic microperimetry, a dense foveal scotoma, normally present in control eyes, was completely lacking in MFC eyes. Scotopic foveal retinal sensitivity was statistically superior in MFC versus control eyes (P = 0.009). CONCLUSION: The absence of the foveal dense scotoma in scotopic conditions underlines that the foveal rod-free zone is not present when capillaries are present in this area. An anomalous foveal distribution of photoreceptors, with both rods and cones present in this area, may be postulated in MFC eyes.


Asunto(s)
Capilares/patología , Angiografía con Fluoresceína/métodos , Enfermedades de la Retina/diagnóstico , Vasos Retinianos/patología , Tomografía de Coherencia Óptica/métodos , Pruebas del Campo Visual/métodos , Campos Visuales/fisiología , Adulto , Femenino , Fóvea Central/irrigación sanguínea , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Enfermedades de la Retina/fisiopatología , Estudios Retrospectivos , Agudeza Visual
7.
Retina ; 40(1): 126-134, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30300267

RESUMEN

PURPOSE: To evaluate the changes in activity of biomarkers of Mu[Combining Diaeresis]ller cells (MC) in aqueous humor of patients with diabetic macular edema after subthreshold micropulse laser, over 1 year. METHODS: Patients with untreated diabetic macular edema and central retinal thickness ≤ 400 µm were enrolled. Best-corrected visual acuity, full ophthalmic examination, and optical coherence tomography were performed. Subthreshold micropulse laser was applied every 3 months. Glial fibrillary acidic protein and inwardly rectifying potassium channel (Kir 4.1), MC activity markers, and vascular endothelial growth factor were quantified in the aqueous humor collected at baseline and at 1, 3, and 12 months after laser. Changes in the macular thickness and inner nuclear layer thickness, where MC bodies are located, were measured. RESULTS: Ten eyes of 10 patients were included. Best-corrected visual acuity improved at 3 months (P = 0.047) and remained stable. Inner nuclear layer thickness significantly reduced at 12 months (P = 0.012). Glial fibrillary acidic protein, Kir 4.1, and vascular endothelial growth factor decreased at 1 and/or 3 and/or 12 months compared with baseline (P < 0.05). CONCLUSION: Subthreshold micropulse laser improves visual function in diabetic macular edema. Kir 4.1 and glial fibrillary acidic protein decrease and inner nuclear layer thickness reduction demonstrate that subthreshold micropulse laser may restore MC function. Subthreshold micropulse laser also reduces vascular endothelial growth factor concentration. The effect of subthreshold micropulse laser in diabetic macular edema may in part be due to changes of MC metabolic activity.


Asunto(s)
Humor Acuoso/metabolismo , Biomarcadores/metabolismo , Retinopatía Diabética/metabolismo , Células Ependimogliales/metabolismo , Edema Macular/metabolismo , Anciano , Western Blotting , Retinopatía Diabética/diagnóstico por imagen , Retinopatía Diabética/cirugía , Ensayo de Inmunoadsorción Enzimática , Femenino , Proteína Ácida Fibrilar de la Glía/metabolismo , Humanos , Coagulación con Láser , Láseres de Semiconductores , Edema Macular/diagnóstico por imagen , Edema Macular/cirugía , Masculino , Persona de Mediana Edad , Canales de Potasio de Rectificación Interna/metabolismo , Tomografía de Coherencia Óptica , Factor A de Crecimiento Endotelial Vascular/metabolismo , Agudeza Visual/fisiología
8.
Retina ; 40(7): 1419-1428, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31283736

RESUMEN

PURPOSE: To identify and classify, by a multimodal imaging approach, the most relevant macular morphologic biomarkers related to visual acuity in patients affected by radiation maculopathy secondary to brachytherapy. METHODS: Fifty-one consecutive patients previously treated with Iodine-125 brachytherapy because of uveal melanoma were enrolled. Each patient underwent full ophthalmologic examination including best-corrected visual acuity and multimodal macular imaging analysis. Macular morphological parameters were processed by a stepwise selection analysis. RESULTS: Three macular parameters were identified as the most relevant macular morphologic biomarkers of poor visual acuity: the vertical thickness of the thickest macular cyst (P = 0.0001), the presence of foveal inner segment/outer segment (IS/OS) layer disruption (P = 0.0054), and the presence of foveal retinal pigment epithelium atrophy (0.0884). The intergrader agreement for these morphologic biomarkers was 0.98, 0.92, and 0.92, respectively (interclass correlation coefficient). CONCLUSION: The vertical thickness of the thickest macular cyst, the presence of foveal retinal pigment epithelium atrophy, and IS/OS layer disruption can be used to clinically characterize radiation maculopathy. These parameters allow for separation of the edematous component of radiation maculopathy, which is potentially treatable in early disease stages, from late onset atrophic components, which are theoretically irreversible.


Asunto(s)
Braquiterapia/efectos adversos , Fóvea Central/patología , Degeneración Macular/clasificación , Melanoma/radioterapia , Neoplasias de la Úvea/radioterapia , Agudeza Visual , Estudios Transversales , Femenino , Angiografía con Fluoresceína/métodos , Estudios de Seguimiento , Fóvea Central/efectos de la radiación , Fondo de Ojo , Humanos , Degeneración Macular/diagnóstico , Degeneración Macular/etiología , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Tiempo , Tomografía de Coherencia Óptica/métodos
9.
Graefes Arch Clin Exp Ophthalmol ; 257(6): 1159-1167, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30903311

RESUMEN

PURPOSE: To better understand the pathophysiology of geographic atrophy (GA), secondary to age-related macular degeneration, eyes affected by unilateral GA (and CNV in the fellow eye; U-GA group) or by bilateral GA (B-GA group) were evaluated using an integrated morpho-functional approach and quantifying biomarker of retinal macroglial activity. METHODS: Patients with U-GA and B-GA and foveal-sparing were consecutively enrolled in a prospective study. All included eyes underwent fundus photography, fundus autofluorescence (FAF), foveal retinal and choroidal thicknesses (RT, CT), contrast sensitivity, best-corrected visual acuity (BCVA), low-luminance VA (LLVA) and low-luminance deficit (LLD), and mesopic and scotopic microperimetry and multifocal electroretinography (mfERG). Glial fibrillary acidic protein (GFAP), biomarker of Müller cell activation, was quantified in the aqueous humor (AH). RESULTS: Forty eyes of 40 patients (18 in the U-GA group and 22 in the B-GA group) were studied. RT, GA area, BCVA, contrast sensitivity, mfERG, and microperimetry (at both background luminances) were not different between groups. CT was significantly thinner in U-GA compared to B-GA group (p = 0.020). Both LLVA and LLD were significantly worse in the B-GA vs U-GA group (p = 0.033 and p = 0.048, respectively). GFAP intraocular concentration was significantly higher in the B-GA group (p = 0.01). CONCLUSIONS: Different pathophysiologic mechanisms may be responsible for GA in unilateral (with CNV in the fellow eye) compared to bilateral GA cases. In unilateral cases, a thinner choroid seems to play a key role. Whereas, in bilateral cases, Müller cells and their supported photoreceptors may be primarily involved.


Asunto(s)
Coroides/irrigación sanguínea , Células Ependimogliales/patología , Fóvea Central/patología , Atrofia Geográfica/diagnóstico , Degeneración Macular/complicaciones , Agudeza Visual , Anciano , Anciano de 80 o más Años , Capilares/patología , Sensibilidad de Contraste , Femenino , Angiografía con Fluoresceína/métodos , Estudios de Seguimiento , Fondo de Ojo , Atrofia Geográfica/etiología , Humanos , Degeneración Macular/diagnóstico , Masculino , Estudios Prospectivos , Tomografía de Coherencia Óptica/métodos
10.
Ophthalmic Res ; 61(2): 73-82, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30625477

RESUMEN

Lamellar macular hole (LMH) is a vitreoretinal disorder characterized by an irregular foveal contour, a break in the inner fovea, dehiscence of the inner foveal retina from the outer retina, and the absence of a full-thickness foveal defect with intact foveal photoreceptors. The pathogenesis is only partially known. The advent of high-resolution optical coherence tomography has allowed distinguishing between two types of epiretinal membrane (ERM) associated with LMH: a conventional ERM (commonly found in macular pucker) and an atypical ERM (known by varied names: dense, epiretinal proliferation, or degenerative). These two types of ERM not only influence LMH morphology but also differ in cell and collagen composition. It remains unclear if these two types are indeed two distinct clinical entities or rather two stages of the same macular disorder. Studies of the natural evolution of LMH have not fully resolved this issue and also offered variable results. Surgical treatment leads to excellent anatomical and functional outcomes, but not without risks. This review provides a critical summary of the available data on LMH including some new insights.


Asunto(s)
Membrana Epirretinal/fisiopatología , Perforaciones de la Retina/fisiopatología , Células Ependimogliales/patología , Fóvea Central/patología , Humanos , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Agudeza Visual
11.
Ophthalmologica ; 242(1): 49-58, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30739110

RESUMEN

OBJECTIVES: To propose a new technique of a double inverted epiretinal membrane (ERM) and internal limiting membrane (ILM) flap (double flap group) for the treatment of idiopathic lamellar macular hole (LMH) with atypical ERM (AERM) and to compare surgical outcomes to those of the standard technique of ERM and ILM peeling of the fovea including LMH (control group). METHODS: AERM was tomographically defined as a medium reflective thickened membrane above the retinal fiber layers without retinal traction signs. A series of patients affected by LMH with AERM were recruited. Preoperative parameters were: intraretinal cysts (IRC), intraretinal splitting diameter, residual foveal thickness, and ellipsoid zone integrity. Postoperative findings were: full-thickness macular hole (FTMH) development, and persistence or new appearance of IRC. Best-corrected visual acuity (BCVA) at baseline, first, third, and sixth postoperative month was evaluated. RESULTS: A total of 48 eyes of 48 patients were included in this study. In the double flap group (30 eyes), a clear improvement of BCVA was noted (p = 0.004), and there were no complications. In the control group (18 eyes), BCVA did not improve and 3 patients developed postoperative FTMH. CONCLUSIONS: The double inverted flap technique is associated with better functional recovery compared to the standard technique and reduces the risk of postoperative FTMH development.


Asunto(s)
Membrana Basal/cirugía , Membrana Epirretinal/cirugía , Perforaciones de la Retina/cirugía , Colgajos Quirúrgicos , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Membrana Epirretinal/diagnóstico por imagen , Membrana Epirretinal/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recuperación de la Función/fisiología , Perforaciones de la Retina/diagnóstico por imagen , Perforaciones de la Retina/fisiopatología , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Resultado del Tratamiento , Agudeza Visual/fisiología , Vitrectomía/métodos
13.
Retina ; 38(5): 922-930, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-28538084

RESUMEN

PURPOSE: To investigate retinal sensitivity (Se) in dome-shaped macula (DSM) using microperimetry and to correlate functional findings to specific spectral domain optical coherence tomography features. METHODS: Patients affected by DSM in at least 1 eye were consecutively enrolled in a prospective, cross-sectional study. All studied eyes performed best-corrected visual acuity measurement, microperimetry to assess Se and optical coherence tomography to investigate DSM pattern and to measure bulge height and retinal and choroidal thicknesses. RESULTS: Fifty-three eyes of 29 patients were studied. Dome-shaped macula was vertically oriented (V-DSM) in 23 (43.4%), symmetric (S-DSM) in 17 (32.1%), and horizontally oriented (H-DSM) in 13 eyes (24.5%). Foveal subretinal fluid was present in 29/53 (54.7%) cases; it correlated to the bulge height (P < 0.0001) and determined a reduction of Se (P < 0.0001) not of best-corrected visual acuity (P = 0.7105). Mean Se was 13.9 ± 3.2 dB. Microperimetry parameters did not differ among the different DSM patterns. However, Se was significantly impaired if foveal subretinal fluid was present in V-DSM and in S-DSM, but not in H-DSM (V-DSM: P < 0.0001; S-DSM: P = 0.0252; H-DSM: P = 0.5723). In H-DSM, inferior choroidal thickness was thicker in cases with foveal subretinal fluid compared with those without it (P = 0.0363). CONCLUSION: In DSM, Se evaluation better reflects the central functional impairment than best-corrected visual acuity, particularly when some optical coherence tomography features, such as foveal subretinal fluid and higher bulge height, are present.


Asunto(s)
Mácula Lútea/anomalías , Mácula Lútea/fisiopatología , Adulto , Anciano , Anciano de 80 o más Años , Coroides/patología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Líquido Subretiniano/fisiología , Tomografía de Coherencia Óptica/métodos , Agudeza Visual/fisiología , Campos Visuales/fisiología , Adulto Joven
14.
Retina ; 38(3): 585-593, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28248826

RESUMEN

PURPOSE: To evaluate the prevalence, the vascular features, and the clinical diagnostic implication of retinal vascular abnormalities (RVAs) associated with neurofibromatosis Type 1 (NF1) in a large cohort of patients. METHODS: Two hundred and ninety-four patients affected by NF1 were consecutively enrolled. The presence of RVAs was detected by means of infrared confocal scanning laser ophthalmoscopy images. Three hundred age- and race-matched healthy subjects were enrolled as a healthy control group. Fluorescein angiography, indocyanine green angiography, and optical coherence tomography angiography were also performed in patients with RVAs. RESULTS: Retinal vascular abnormalities were detected in 18 patients with NF1 (6.1%) and in none of the healthy subjects. Retinal vascular abnormalities appeared in all cases as well-defined, small, tortuous retinal vessels with a spiral aspect, originating from small tributaries of retinal veins. The presence of RVAs did not correlate with the presence of other specific ocular or systemic NF1 features (P > 0.05). On optical coherence tomography angiography, RVAs appeared as an isolated tortuous vessel of the superficial vascular plexus in all cases, associated with localized anomalous crowded and congested capillary network of the deep vascular plexus in 75% of cases. CONCLUSION: Retinal vascular abnormalities are present in a limited proportion of patients affected by NF1 and can be considered an additional distinctive sign of the disease.


Asunto(s)
Neurofibromatosis 1/patología , Enfermedades de la Retina/patología , Vasos Retinianos/patología , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Angiografía con Fluoresceína , Humanos , Masculino , Microscopía Confocal , Neurofibromatosis 1/diagnóstico , Oftalmoscopía , Prevalencia , Estudios Prospectivos , Enfermedades de la Retina/epidemiología , Tomografía de Coherencia Óptica/métodos , Adulto Joven
15.
Ophthalmic Res ; 59(4): 206-211, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29421813

RESUMEN

PURPOSE: To compare the foveal avascular zone (FAZ) area measurements produced by different optical coherence tomography angiography (OCTA). METHODS: Healthy enrolled volunteers underwent OCTA using 2 different devices: Spectralis HRA+OCTA (Heidelberg Engineering, Heidelberg, Germany) and RS-3000 Advance (Nidek, Gamagori, Japan). Two graders measured FAZ in both superficial (SCP) and deep (DCP) retinal capillary plexuses. The SCP and DCP en face images were visualized automatically segmenting 2 separate slabs defined by the arbitrary segmentation lines created by the software of each OCT device. One grader repeated each measure twice. RESULTS: Fifty-nine eyes were included. The mean FAZ was 0.33 ± 0.09 mm2 at the SCP and 0.57 ± 0.17 mm2 at the DCP measured with RS-3000 versus 0.30 ± 0.08 and 0.35 ± 0.08 mm2, respectively, measured with Spectralis. The measurements of the 2 devices were significantly different (p < 0.0001). The intraoperator agreement was excellent at the SCP (intraclass correlation coefficient, ICC: 0.97 with Spectralis and 0.96 with RS-3000). At the DCP, it was good with Spectralis and fair with RS-3000 (ICC: 0.85 and 0.64, respectively). The interoperator agreement was excellent for Spectralis and good for RS-3000 at the SCP (ICC: 0.97 and 0.93, respectively). It was good at the DCP with both devices (ICC: 0.74 with RS-3000 and 0.81 with Spectralis). CONCLUSIONS: FAZ measurements obtained with different OCTA devices differ. These findings should be considered in follow-up studies of patients with retinal vascular diseases.


Asunto(s)
Angiografía con Fluoresceína/métodos , Fóvea Central/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Reproducibilidad de los Resultados , Adulto Joven
17.
Retina ; 36(9): 1664-9, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26960014

RESUMEN

PURPOSE: To better pathophysiologically characterize macular edema secondary to eye irradiation, analyzing the presence of optical coherence tomography (OCT) hyperreflective spots. METHODS: Twenty-five consecutive eyes affected by radiation maculopathy, secondary to irradiation for a primary uveal melanoma, without macular involvement in the irradiation field, were consecutively enrolled. All subjects underwent full ophthalmologic examination, including fluorescein angiography, color fundus photography, and spectral domain OCT, even in en face modality. Optical coherence tomography central subfield thickness was stratified into the following 3 categories: <400 µm, 400 to 600 µm, and >600 µm. Spectral domain OCT images were analyzed to measure and localize hyperreflective spots by two independent masked graders. RESULTS: Hyperreflective spots were documented in all eyes (100%). Hyperreflective spots significantly increased in number according to OCT central subfield thickness (<400 µm, 400-600 µm, >600 µm, P < 0.05). The intergrader agreement was at least substantial for all measurements (intraclass correlation coefficient: 0.80). CONCLUSION: Spectral domain OCT documents discrete intraretinal reflectivity changes (hyperreflective spots) in all (studied) eyes affected by radiation maculopathy. Hyperreflective spots increase in number with increasing central subfield thickness and could be considered as a new clinical biomarker of intraretinal inflammation in patients affected by macular edema secondary to irradiation for uveal melanoma.


Asunto(s)
Braquiterapia/efectos adversos , Edema Macular/diagnóstico por imagen , Traumatismos por Radiación/diagnóstico por imagen , Retina/efectos de la radiación , Tomografía de Coherencia Óptica , Adulto , Anciano , Femenino , Humanos , Radioisótopos de Yodo/efectos adversos , Edema Macular/etiología , Masculino , Melanoma/radioterapia , Persona de Mediana Edad , Traumatismos por Radiación/etiología , Retina/diagnóstico por imagen , Neoplasias de la Úvea/radioterapia , Agudeza Visual
19.
Retina ; 34(12): 2416-22, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25207944

RESUMEN

BACKGROUND: To determine whether scanning laser ophthalmoscope in the retromode (RM-SLO) is useful to evaluate the extent of diabetic macular edema (DME) and its functional characteristics. METHODS: Comparative case series of 37 eyes (27 patients with diabetes). Inclusion criteria were: center involving DME determined by optical coherence tomography; RM-SLO, optical coherence tomography, fluorescein angiography (FA), and microperimetry performed on the same day; no significant media opacities. Two masked retinal specialists independently graded all images. The full extent of DME areas and two grades (small and large) DME areas were separately evaluated. The relationship between the DME extent obtained by RM-SLO and FA was assessed by Pearson correlation coefficient, intraclass correlation coefficient, and Bland-Altman plot. T-test was used to compare DME extent to central retinal thickness and macular sensitivity. RESULTS: The values of RM-SLO from the right and left prospective were highly correlated in the evaluation of the extent of DME (rho = 0.99, P < 0.0001). Mean DME area on RM-SLO was 5.7 + 5.6 mm (range, 0.3-18.2 mm); mean DME area on FA was 6.4 + 5.9 mm (range, 0.3-19.7 mm). The correlation between RM-SLO and FA in the evaluation of DME extent was highly significant (rho = 0.97, P < 0.0001), even when DME extent was divided in 2 major areas (intraclass correlation coefficient >0.8, P < 0.0001). The correlation between retinal sensitivity and DME area (RM-SLO) was significant (rho = -0.61, P = 0.0003). CONCLUSION: The extent has become an important parameter for monitoring DME, with or without treatment. The extent of DME well correlates with functional data, mainly retinal sensitivity. Retromode SLO can be reliably and easily used in the evaluation of DME extent, avoiding the use of invasive FA.


Asunto(s)
Retinopatía Diabética/diagnóstico , Edema Macular/diagnóstico , Oftalmoscopía/métodos , Adulto , Anciano , Retinopatía Diabética/fisiopatología , Femenino , Angiografía con Fluoresceína , Humanos , Edema Macular/fisiopatología , Masculino , Persona de Mediana Edad , Tomografía de Coherencia Óptica , Agudeza Visual/fisiología , Pruebas del Campo Visual , Campos Visuales/fisiología
20.
Surv Ophthalmol ; 2024 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-39029747

RESUMEN

Diabetic macular edema (DME) and neovascular age-related macular degeneration (nAMD) are multifactorial disorders that affect the macula and cause significant vision loss. Although inflammation and neoangiogenesis are hallmarks of DME and nAMD, respectively, they share some biochemical mediators. While inflammation is a trigger for the processes that lead to the development of DME, in nAMD inflammation seems to be the consequence of retinal pigment epithelium and Bruch membrane alterations. These pathophysiologic differences may be the key issue that justifies the difference in treatment strategies. Vascular endothelial growth factor inhibitors have changed the treatment of both diseases, however, many patients with DME fail to achieve the established therapeutic goals. From a clinical perspective, targeting inflammatory pathways with intravitreal corticosteroids has been proven to be effective in patients with DME. On the contrary, the clinical relevance of addressing inflammation in patients with nAMD has not been proven yet. We explore the role and implication of inflammation in the development of nAMD and DME and its therapeutical relevance.

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