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1.
Telemed J E Health ; 30(2): 341-353, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37585566

RESUMO

Background: The current medical scenario is closely linked to recent progress in telecommunications, photodocumentation, and artificial intelligence (AI). Smartphone eye examination may represent a promising tool in the technological spectrum, with special interest for primary health care services. Obtaining fundus imaging with this technique has improved and democratized the teaching of fundoscopy, but in particular, it contributes greatly to screening diseases with high rates of blindness. Eye examination using smartphones essentially represents a cheap and safe method, thus contributing to public policies on population screening. This review aims to provide an update on the use of this resource and its future prospects, especially as a screening and ophthalmic diagnostic tool. Methods: In this review, we surveyed major published advances in retinal and anterior segment analysis using AI. We performed an electronic search on the Medical Literature Analysis and Retrieval System Online (MEDLINE), EMBASE, and Cochrane Library for published literature without a deadline. We included studies that compared the diagnostic accuracy of smartphone ophthalmoscopy for detecting prevalent diseases with an accurate or commonly employed reference standard. Results: There are few databases with complete metadata, providing demographic data, and few databases with sufficient images involving current or new therapies. It should be taken into consideration that these are databases containing images captured using different systems and formats, with information often being excluded without essential detailing of the reasons for exclusion, which further distances them from real-life conditions. The safety, portability, low cost, and reproducibility of smartphone eye images are discussed in several studies, with encouraging results. Conclusions: The high level of agreement between conventional and a smartphone method shows a powerful arsenal for screening and early diagnosis of the main causes of blindness, such as cataract, glaucoma, diabetic retinopathy, and age-related macular degeneration. In addition to streamlining the medical workflow and bringing benefits for public health policies, smartphone eye examination can make safe and quality assessment available to the population.


Assuntos
Retinopatia Diabética , Telemedicina , Humanos , Inteligência Artificial , Smartphone , Reprodutibilidade dos Testes , Retinopatia Diabética/diagnóstico , Telemedicina/métodos , Cegueira
2.
Retina ; 43(11): 1960-1970, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37657077

RESUMO

PURPOSE: To perform an unsupervised machine learning clustering of patients with punctate inner choroidopathy (PIC) and provide new insights into the significance of pachychoroid disease features in PIC eyes. METHODS: Retrospective multicenter study, including 102 eyes from 82 patients diagnosed with PIC. Demographics, clinical data, and multimodal imaging, including fundus photography, optical coherence tomography, and indocyanine green angiography, were collected. Clusters of eyes were identified, and multilevel logistic regression analysis was performed to compare between-group differences. RESULTS: Using 17 clinical features, two distinct clusters of patients with PIC were identified. Cluster 1 patients were characterized by older age, high myopia, myopic maculopathy features, thin choroids, multiple lesions, and a higher likelihood of developing patchy chorioretinal atrophy. Cluster 2 consisted of younger age, emmetropia or low myopia, thick choroids, choroidal vascular hyperpermeability on late-phase indocyanine green angiography, and high prevalence of focal choroidal excavation. These features exhibited significant differences ( P < 0.05) between the two clusters. CONCLUSION: While PIC typically affects young myopic female patients with thin choroids, a subset of patients with PIC exhibits features associated with pachychoroid disease. Considering the potential influence of choroidal venous insufficiency on PIC manifestations and secondary complications, we propose the term "punctate inner pachychoroidopathy" to characterize this distinct subtype of PIC.


Assuntos
Miopia , Síndrome dos Pontos Brancos , Feminino , Humanos , Corioide/patologia , Demografia , Angiofluoresceinografia/métodos , Verde de Indocianina , Inflamação , Miopia/patologia , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Síndrome dos Pontos Brancos/diagnóstico , Masculino
3.
Graefes Arch Clin Exp Ophthalmol ; 258(4): 787-793, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31897703

RESUMO

PURPOSE: To assess the functional and anatomical outcomes of concurrent administration of aflibercept injection and dexamethasone (DEX) implant in patients with macular edema (ME) secondary to retinal vein occlusion (RVO), refractory to each of the two drugs previously administered as monotherapy. Secondary outcomes included the number of retreatments required in a 12-month follow-up and safety. METHODS: This is a prospective, interventional case series of consecutive patients with refractory ME secondary to RVO, followed over a year. One injection of aflibercept was followed by a DEX implant on the same day; retreatment was driven by the persistence of ME on SD-OCT at least 4 months after the previous combined therapy. Central retinal thickness (CRT), best-corrected visual acuity (BCVA), and intraocular pressure (IOP) were collected at 1 month and then every 2 months until the end of follow-up. RESULTS: Thirty eyes of 30 Caucasian patients were enrolled; mean duration of RVO before the first combined treatment was 25 ± 5 months (range 11 ± 30). Baseline BCVA was 0.73 ± 0.5 LogMAR, with no significant changes at 12 months (0.77 ± 0.51 µm, p = 0.2). Baseline CRT was 578.3 ± 161 µm, reducing to 352.5 ± 81 µm at 12 months (p = 0.003). Thirteen eyes (43.3%) required a second treatment. Twenty eyes (66.6%) showed no ME at the end of follow-up. One patient (3.3%) required topical IOP-lowering therapy during the study. CONCLUSION: In eyes with ME secondary to RVO unresponsive to either aflibercept or DEX administered singularly, a combination therapy with simultaneous administration of aflibercept and DEX was effective in resolving ME, despite the absence of visual improvement. Earlier combined treatment in the course of the disease might lead to better functional outcomes.


Assuntos
Dexametasona/administração & dosagem , Edema Macular/tratamento farmacológico , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Proteínas Recombinantes de Fusão/administração & dosagem , Oclusão da Veia Retiniana/complicações , Acuidade Visual , Adulto , Idoso , Inibidores da Angiogênese/administração & dosagem , Implantes de Medicamento , Quimioterapia Combinada , Feminino , Seguimentos , Glucocorticoides/administração & dosagem , Humanos , Injeções Intravítreas , Macula Lutea/patologia , Edema Macular/diagnóstico , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Oclusão da Veia Retiniana/diagnóstico , Oclusão da Veia Retiniana/tratamento farmacológico , Fatores de Tempo , Tomografia de Coerência Óptica , Resultado do Tratamento
4.
Retina ; 39(5): 1009-1015, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-29370036

RESUMO

PURPOSE: To study multimodal imaging features of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). METHODS: Six patients (3 males, mean age 11 years) and a healthy age-matched control group made up of 15 healthy subjects (8 males, mean age 12.6 years) were included in the analysis. Complete ophthalmologic examination was performed, including best-corrected visual acuity, anterior and posterior segment slit-lamp evaluation, and tonometry. The multimodal imaging protocol included fundus images, structural optical coherence tomography (OCT), and swept-source OCT angiography (OCTA). The main outcome measures included the qualitative evaluation of both OCT and OCTA features of CHRRPE, retinal and choroidal thickness measurements, and the quantitative analysis of superficial capillary plexus, deep capillary plexus, and choriocapillaris vessel densities. RESULTS: Optical coherence tomography features of CHRRPE were examined extensively. Multiple little hyperreflective triangular outer retinal alterations were found at the CHRRPE edges in all patients; these were dubbed the "shark-teeth" sign. Optical coherence tomography angiography showed rarefaction and morphologic alterations of all retinal plexa. Moreover, quantitative analysis revealed a statistically significant decrease in superficial capillary plexus, deep capillary plexus, and choriocapillaris vessel densities in patients affected by CHRRPE compared with the control group. CONCLUSION: Optical coherence tomography and OCTA analyses allowed the accurate qualitative and quantitative analyses of CHRRPE features. Further studies are needed to better define OCTA changes of CHRRPE better and to improve our understanding of the possible causes of the shark-teeth sign.


Assuntos
Angiofluoresceinografia/métodos , Hamartoma/diagnóstico , Doenças Retinianas/diagnóstico , Epitélio Pigmentado da Retina/patologia , Vasos Retinianos/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Criança , Corioide/patologia , Feminino , Fundo de Olho , Humanos , Masculino , Reprodutibilidade dos Testes
5.
Retina ; 39(3): 608-613, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29252973

RESUMO

PURPOSE: To assess foveal and parafoveal vasculature at superficial capillary plexus (SCP), deep capillary plexus, and choriocapillaris using optical coherence tomography angiography in the fellow eyes of patients with Coats disease. METHODS: Observational and prospective case series. Thirteen patients with unilateral Coats and 14 healthy age- and sex-matched controls were consecutively recruited at Manchester Royal Eye Hospital and the Department of Ophthalmology of San Raffaele Hospital. Both groups underwent complete ophthalmologic examination, including optical coherence tomography angiography (Topcon Corp) 3 mm × 3 mm scans. Images were imported into ImageJ software and binarized; foveal avascular zone area was manually outlined and vessel density analyzed in inner (foveal) and outer (parafoveal) areas of SCP, deep capillary plexus, and choriocapillaris. RESULTS: Fellow eyes disclosed a significant increase in the foveal vessel density of SCP (P = 0.04); in particular, superior and temporal quadrants showed more marked alterations (P = 0.02 and 0.04, respectively). Analysis of foveal avascular zone area revealed a significant enlargement in the SCP (P = 0.04). No correlation was found between fellow eyes and the stage of affected eyes. CONCLUSION: Fellow eyes of Coats patients carry quantitative foveal vascular alterations at SCP. These may represent markers of altered inner blood-retinal barrier, due to a bilateral defect in midcapillary angiogenesis.


Assuntos
Fóvea Central/irrigação sanguínea , Macula Lutea/irrigação sanguínea , Telangiectasia Retiniana/patologia , Vasos Retinianos/patologia , Adolescente , Barreira Hematorretiniana/patologia , Criança , Pré-Escolar , Feminino , Angiofluoresceinografia/métodos , Humanos , Masculino , Estudos Prospectivos , Tomografia de Coerência Óptica/métodos
6.
Retina ; 38(12): 2379-2386, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29065010

RESUMO

PURPOSE: To report on the presence of hyperreflective foci (HF) on spectral domain optical coherence tomography in patients with Best vitelliform macular dystrophy (BVMD), and to describe the relationship between HF and stages of the disease. METHODS: Consecutive patients diagnosed with BVMD were enrolled in a prospective cross-sectional study. All patients and control subjects underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. MAIN OUTCOME MEASURE: identification of HF in BVMD. Secondary outcome: assessment of the HF in each stage and correlation with best-corrected visual acuity. RESULTS: Overall, 75 eyes of 39 patients were included in the study (Stage 1: 13%, Stage 2: 43%, Stage 3: 15%, Stage 4: 21%, and Stage 5: 8%). On spectral domain optical coherence tomography assessment, intraretinal HF were present in 83% of all eyes, in 91% of eyes affected by clinical BVMD (Stages 2-5) and in 100% of patients in Stages 4 and 5. In 46% of clinically diseased eyes, HF were localized in the fovea and in correspondence with the BVMD lesions at the level of the outer nuclear layer and outer plexiform layer. Hyperreflective foci were present in 16% of control eyes. Mean number of HF in eyes affected by clinical BVMD stood at 7.67 ± 7.35. These were predominantly small HF (6.23 ± 6.14, P < 0.001) localized in the outer nuclear layer (5.19 ± 5.38, P = 0.001) and presented largely in the extrafoveal, rather than the foveal area (5.21 ± 5.57 vs 2.46 ± 2.73, P = 0.001). Analysis of HF distribution revealed that the control group and Stage 1 eyes had the fewest HF; Stage 4 displayed a significant increase in the number of HF compared with Stages 2 and 3; Stage 5 also showed an increased number of HF, although this difference was statistically significant only with Stage 3 eyes. The best-corrected visual acuity was negatively related to the number of HF, with best-corrected visual acuity deteriorating as the number of HF increased in Stages 2 to 5 (P < 0.001). CONCLUSION: This study describes the presence of HF in BVMD using spectral domain optical coherence tomography. Our data suggest that HF identification is correlated with the progression of the disease and could represent a useful biomarker of BVMD.


Assuntos
Angiofluoresceinografia/métodos , Macula Lutea/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Distrofia Macular Viteliforme/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Estudos Transversais , Progressão da Doença , Feminino , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Adulto Jovem
7.
Graefes Arch Clin Exp Ophthalmol ; 255(2): 271-279, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27491512

RESUMO

PURPOSE: Inherited retinal dystrophies and cone dysfunction syndromes may show a sharp hyporeflective interruption in the outermost retinal layers on optical coherence tomography (OCT), known as foveal cavitation (FC). The aim of the study was to describe the morpho-functional features of FC in patients affected by retinal dystrophies by means of multimodal imaging. METHODS: A consecutive series of patients affected by FC were prospectively recruited for the study. Patients underwent short-wavelength (SW) and near-infraRed (NIR) fundus autofluorescence (FAF), spectral domain OCT (SD-OCT), microperimetry (MP), and multifocal electroretinogram (mfERG). Mean size of FC on OCT was correlated with best-corrected visual acuity (BCVA). RESULTS: Overall, 15 patients (30 eyes) were enrolled. Mean age was 38.2 ± 14.5 years (range: 10-60), with nine females (60 %). Mean BCVA was 0.5 ± 0.4 LogMAR. SD-OCT revealed focal loss of outer retinal layers and disruption of inner segment ellipsoid zone. Vertical height of FC (mean 27.77 ± 18.77 µm) was indirectly related to BCVA; complete forms of FC, with total loss of outer OCT bands, showed a poorer visual outcome. The FC size on NIR-FAF turned out to be larger with respect to SD-OCT and SW-FAF. CONCLUSION: Our data indicate that the presence of FC worsens functional outcome in patients affected by retinal disorders; complete and higher lesions are associated with a worse morpho-functional prognosis in these eyes.


Assuntos
Eletrorretinografia/métodos , Angiofluoresceinografia/métodos , Fóvea Central/patologia , Imagem Multimodal/métodos , Distrofias Retinianas/diagnóstico , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adolescente , Adulto , Criança , Feminino , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Distrofias Retinianas/fisiopatologia , Índice de Gravidade de Doença , Testes de Campo Visual , Campos Visuais , Adulto Jovem
8.
Retina ; 37(5): 998-1002, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27627747

RESUMO

PURPOSE: To evaluate in vivo the vascular anatomy and functionality of early manifestation retinitis pigmentosa (RP) by means of a dynamic and static vessel analyzer. METHODS: Fourteen patients with early RP and 14 normal subjects were consecutively enrolled in this observational, prospective study. Each patient underwent a complete ophthalmologic examination, including dynamic and static retinal vessel analysis using the Dynamic Vessel Analyzer. RESULTS: The patients with RP and the control group were well matched in age and sex. Patients with RP had a mean best-corrected visual acuity of 20/25 (range: 20/40-20/20). Dynamic vessel analysis performed in patients with RP showed an arterial and venous dilation during flicker stimulation of 5.28 ± 1.7% and 4.07 ± 1.78%, respectively. Only arterial dilation was statistically different compared with control subjects (3.33 ± 0.99%, P = 0.0062). Static retinal vessel analysis in patients with RP showed a decreased mean central retinal artery equivalent (P < 0.001) and central retinal vein equivalent (P < 0.001) compared with control subjects. By contrast, the arterial-to-venous ratio was similar in both groups (RP: 0.79 ± 0.11, control group 0.86 ± 0.04, P = 0.072). CONCLUSION: Our data confirm that retinal arterial and venous narrowing is present at an early stage in patients affected by RP. However, dynamic vessel analysis shows how the retina of patients with RP with no best-corrected visual acuity loss presents an augmented artery dilation response compared with normal subjects and retained neurovascular coupling.


Assuntos
Vasos Retinianos , Retinose Pigmentar , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Prospectivos , Análise de Regressão , Artéria Retiniana/patologia , Artéria Retiniana/fisiopatologia , Veia Retiniana/patologia , Veia Retiniana/fisiopatologia , Vasos Retinianos/patologia , Vasos Retinianos/fisiopatologia , Retinose Pigmentar/patologia , Retinose Pigmentar/fisiopatologia , Tomografia de Coerência Óptica , Acuidade Visual , Adulto Jovem
9.
Retina ; 37(7): 1314-1319, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28574419

RESUMO

PURPOSE: To analyze the changes in ganglion cell complex and peripapillary retinal nerve fiber layer thickness, in central macular thickness and choroidal thickness on spectral domain optical coherence tomography in patients with neovascular age-related macular degeneration treated with intravitreal ranibizumab injections. METHODS: All consecutive patients with untreated neovascular age-related macular degeneration received loading phase of three monthly intravitreal ranibizumab, followed by retreatments on a pro re nata protocol for 12 months. PRIMARY OUTCOME: changes in ganglion cell complex and retinal nerve fiber layer at the end of follow-up. Secondary outcome: changes in best-corrected visual acuity, central macular thickness, and choroidal thickness at the end of follow-up. Choroidal thickness was measured at 500 µm, 1000 µm, and 1,500 µm intervals nasally, temporally, superiorly, and inferiorly to the fovea, respectively, on horizontal and vertical line scans centered on the fovea. RESULTS: Twenty-four eyes were included. Ganglion cell complex and peripapillary retinal nerve fiber layer thickness did not show statistically significant changes through 12 months (55.6 ± 18.5 and 81.9 ± 9.9 µm at baseline, 52.7 ± 19.3 and 84.6 ± 15.5 µm at month 12, P > 0.05). Central macular thickness showed progressive decrease from baseline to month 12, with maximum reduction at month 3 (P < 0.001). Statistically significant reduction in choroidal thickness was registered in the nasal 500, 1000, and 1,500 µm from the fovea, corresponding to the papillomacular region (from 169.6 ± 45.3 to 153.9 ± 46.9, P < 0.001). CONCLUSION: Intravitreal ranibizumab injections did not affect retinal nerve fiber layer and ganglion cell complex thickness in 1-year follow-up. Choroidal thickness in papillomacular area and central macular thickness was significantly reduced at the end of treatment. Further studies, with larger sample, longer follow-up, and greater number of injections, are warranted.


Assuntos
Fóvea Central/efeitos dos fármacos , Fibras Nervosas/efeitos dos fármacos , Ranibizumab/administração & dosagem , Células Ganglionares da Retina/efeitos dos fármacos , Tomografia de Coerência Óptica/mortalidade , Degeneração Macular Exsudativa/tratamento farmacológico , Idoso , Inibidores da Angiogênese/administração & dosagem , Feminino , Angiofluoresceinografia , Fóvea Central/patologia , Fundo de Olho , Humanos , Injeções Intravítreas , Masculino , Fibras Nervosas/patologia , Células Ganglionares da Retina/patologia , Resultado do Tratamento , Degeneração Macular Exsudativa/diagnóstico
11.
Graefes Arch Clin Exp Ophthalmol ; 254(7): 1297-302, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26490373

RESUMO

PURPOSE: To identify the fundus autofluorescence (FAF) patterns in Best vitelliform macular dystrophy (VMD). METHODS: Patients affected by VMD in vitelliform, pseudohypopyon, and vitelliruptive stages underwent a complete ophthalmological examination, including best-corrected visual acuity (BCVA), short-wavelength FAF (SW-FAF), near-infrared FAF (NIR-FAF) and microperimetry. MAIN OUTCOME MEASURES: the identification of the correlation between SW-FAF and NIR-FAF patterns of the foveal region with BCVA, and central retinal sensitivity in eyes affected by VMD. The secondary outcomes included the definition of the frequency of foveal patterns on SW-FAF and NIR-FAF. RESULTS: Thirty-seven of 64 (58 %), 8 of 64 (12.5 %) and 19 of 64 (29.5 %) eyes showed vitelliform, pseudohypopyon, and vitelliruptive stages respectively. Three main FAF patterns were identified on both techniques: hyper-autofluorescent pattern, hypo-autofluorescent pattern, and patchy pattern. BCVA was significantly different in eyes with hypo-autofluorescent and patchy patterns with respect to eyes showing a hyper-autofluorescent pattern. Similar differences were registered in the FS according to SW-FAF classification. However, the FS differed in each subgroup in the NIR-FAF analysis. Subgroup analyses were performed on the patchy pattern, combining FAF and fundus abnormalities. Considering both FAF techniques, the BCVA differed between the vitelliform and pseudohypopyon stages, and between the vitelliform and vitelliruptive stages. In the NIR-FAF classification, there was a significant statistical difference in the FS between each subgroup; in the SW-FAF, there was a significant difference between the vitelliform and pseudohypopyon stages and the vitelliform and vitelliruptive stages. CONCLUSIONS: Three main FAF patterns can be identified in VMD. The patchy pattern is the most frequent, accounting for 70 % of eyes on SW-FAF and 80 % of eyes on NIR-FAF. A tighter correlation links the classification of NIR-FAF patterns and FS. Longitudinal investigations are warranted to evaluate the course of FAF patterns and their role in disease monitoring.


Assuntos
Angiofluoresceinografia/métodos , Retina/diagnóstico por imagem , Acuidade Visual , Campos Visuais , Distrofia Macular Viteliforme/diagnóstico , Adulto , Feminino , Fundo de Olho , Humanos , Masculino , Estudos Prospectivos , Tomografia de Coerência Óptica , Distrofia Macular Viteliforme/fisiopatologia
12.
Retina ; 36(6): 1119-25, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26579787

RESUMO

PURPOSE: To evaluate the rate of adherence to prescribed nutritional supplementation in patients affected by age-related macular degeneration, in an Italian tertiary referral tertiary center. METHODS: Patients with age-related macular degeneration, age-related eye disease study Categories 3 and 4, were recruited and underwent an 11-item questionnaire. RESULTS: The study included a total of 193 patients meeting the age-related eye disease study nutritional supplementation criteria (174 patients with age-related eye disease study Category 4 and 19 with Category 3). Seventy-seven (40%) were taking oral supplementation, 70 of whom (90%) 1 tablet/day. Oral supplementation was recommended by the personal ophthalmologist in 85 patients (44%), including all those currently receiving it. Eight patients of 85 (9.4%) rejected supplementation despite it being recommended, mostly because they were already taking other medicines. Ninety-four patients (48%) claimed they had not received any information from their ophthalmologist. CONCLUSION: Our data reveal that Italian patients with age-related eye disease study Categories 3 and 4 have a low adherence to nutritional supplementation. In 65% of cases, patients were not adequately informed by their ophthalmologist of the potential benefits of oral supplementation for age-related macular degeneration; indeed, 108 patients (56%) were not even aware such nutritional treatments are available. Ophthalmologists should be aware of the importance of giving advice to persons with age-related macular degeneration regarding the benefits of oral supplements.


Assuntos
Antioxidantes/administração & dosagem , Suplementos Nutricionais , Degeneração Macular/prevenção & controle , Cooperação do Paciente/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Vitaminas/administração & dosagem , Administração Oral , Idoso , Idoso de 80 Anos ou mais , Ácido Ascórbico/administração & dosagem , Estudos Transversais , Progressão da Doença , Ácidos Graxos Ômega-3/administração & dosagem , Feminino , Humanos , Itália , Degeneração Macular/diagnóstico , Masculino , Pessoa de Meia-Idade , Fenômenos Fisiológicos da Nutrição , Inquéritos e Questionários , Zinco/administração & dosagem , beta Caroteno/administração & dosagem
13.
Optom Vis Sci ; 93(10): 1315-1318, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27668495

RESUMO

PURPOSE: To describe a peculiar flecked-retina phenotype in a young female affected by early-onset retinal dystrophy due to a heterozygous mutation in the cone-rod transcription factor CRX gene. CASE REPORT: A 5-year-old girl presented with poor vision and nystagmus from the first month after birth. Opththalmologic examination at baseline revealed an altered foveal reflex, epiretinal membrane, and yellow fleck-like retinal deposits in the mid- and extreme periphery bilaterally that disappeared after 3 years of follow-up. Electoretinogram was non-recordable in both rods and cones components bilaterally. Genomic sequencing identified a heterozygous missense mutation -c.425A > G (Tyr142Cys) in CRX. CONCLUSIONS: We identified a novel early-onset retinal dystrophy-related heterozygous CRX mutation associated with early and severe rod and cone dysfunction and regressive flecked-retina appearance on ophthalmoscopy.

15.
Retina ; 35(8): 1662-9, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26214316

RESUMO

PURPOSE: To compare retinal sensitivity obtained with MP1 and MAIA microperimeters in patients affected by retinal dystrophies (RD) and in healthy subjects. METHODS: Thirty-six patients affected by RD and 25 healthy subjects were considered for the study. All patients and controls underwent a complete ophthalmic examination including fundus-related perimetry, performed by means of two microperimeters, the MP1 (Nidek Technologies) and the MAIA (CenterVue). Main outcome of the study was the comparison of retinal sensitivity. Such comparison was performed converting the MP1 decibel (dB) values to their MAIA equivalent dB values. RESULTS: Mean retinal sensitivity in patients affected by RD was 5.68 ± 6.08 dB (mean ± SD) on MP1 (9.66 ± 10.06 dB converted to their equivalent MAIA values) and 14.66 ± 9.37 dB on MAIA (P < 0.0001). Mean retinal sensitivity in healthy subjects was 18.46 ± 3.10 dB on MP1 (22.44 ± 7.08 dB on their converted equivalent MAIA values) and 28.52 ± 1.12 dB on MAIA (P < 0.0001). Thirty eyes affected by RD (41%) showed retinal areas characterized by sensitivity under 1 dB on MP1, whereas the MAIA examination of the same areas revealed a mean retinal sensitivity of 4.7 dB. Moreover, 28 of these eyes disclosed also areas of absolute scotoma on MP1, but examining the same areas on MAIA, just 13 of these eyes (46%) disclosed an absolute scotoma. In addition, in a subgroup of 6 eyes affected by RD (8%) showing a retinal sensitivity of 20 dB on MP1, the corresponding value on MAIA varied from 26.3 dB to 30.0 dB, with a mean value of 27.8 ± 1.3 dB. CONCLUSION: The MAIA microperimeter provides a more accurate characterization of functional impairment in RD with respect to the MP1 system, especially in cases with low and high retinal sensitivity. MAIA microperimeter could reveal particularly useful in precisely identifying and monitoring subtle changes in retinal sensitivity, especially in view of the availability of therapies aiming at a functional rescue in patients with RD.


Assuntos
Retina/fisiologia , Distrofias Retinianas/fisiopatologia , Escotoma/fisiopatologia , Testes de Campo Visual/instrumentação , Campos Visuais/fisiologia , Adulto , Feminino , Fundo de Olho , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Distrofias Retinianas/diagnóstico , Escotoma/diagnóstico , Limiar Sensorial , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia
16.
Optom Vis Sci ; 92(4 Suppl 1): S51-4, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25730336

RESUMO

PURPOSE: To describe a case of extensive macular atrophy and pseudodrusen complicated by bilateral choroidal neovascularization (CNV). METHODS: A 53-year-old woman showed extensive macular atrophy at the posterior pole associated with disciform scar in the right eye and fibrotic juxtafoveal CNV in the left eye. RESULTS: The patient underwent a complete ophthalmological examination including fundus autofluorescence, fluorescein angiography, and spectral-domain optical coherence tomography, showing a disciform scar at the posterior pole of the right eye and an extensive macular atrophy associated with a fibrotic juxtafoveal CNV. The patient was previously treated with four and seven intravitreal bevacizumab injections, respectively, in the right eye and in the left eye. Molecular analyses of the ABCA4 gene revealed the variant c.1268A

Assuntos
Neovascularização de Coroide/etiologia , Distrofias Hereditárias da Córnea/complicações , Drusas Retinianas/complicações , Transportadores de Cassetes de Ligação de ATP/genética , Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Bevacizumab , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/tratamento farmacológico , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/tratamento farmacológico , Feminino , Angiofluoresceinografia , Humanos , Injeções Intravítreas , Pessoa de Meia-Idade , Drusas Retinianas/diagnóstico , Drusas Retinianas/tratamento farmacológico , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologia
17.
Retina ; 39(5): e14-e15, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30883532
18.
Ophthalmic Genet ; 45(1): 44-50, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37041716

RESUMO

BACKGROUND: Autosomal Recessive Bestrophinopathy (ARB) is an inherited retinal disease caused by biallelic mutations in the BEST1 gene. Herein, we report the multimodal imaging findings of ARB presenting with cystoid maculopathy and investigate the short-term response to combined systemic and topical carbonic anhydrase inhibitors (CAIs). MATERIAL AND METHODS: An observational, prospective, case series on two siblings affected by ARB is presented. Patients underwent genetic testing and optical coherence tomography (OCT), blue-light fundus autofluorescence (BL-FAF), near-infrared fundus autofluorescence (NIR-FAF), fluorescein angiography (FA), MultiColor imaging, and OCT angiography (OCTA). RESULTS: Two male siblings, aged 22 and 16, affected by ARB resulting from c.598C>T, p.(Arg200*) and c.728C>A, p.(Ala243Glu) BEST1 compound heterozygous variants, presented with bilateral multifocal yellowish pigment deposits scattered through the posterior pole that corresponded to hyperautofluorescent deposits on BL-FAF. Vice versa, NIR-FAF mainly disclosed wide hypoautofluorescent areas in the macula. A cystoid maculopathy and shallow subretinal fluid were evident on structural OCT, albeit without evidence of dye leakage or pooling on FA. OCTA demonstrated disruption of the choriocapillaris throughout the posterior pole and sparing of intraretinal capillary plexuses. Six months of combined therapy with oral acetazolamide and topical brinzolamide resulted in limited clinical benefit. CONCLUSIONS: We reported two siblings affected by ARB, presenting as non-vasogenic cystoid maculopathy. Prominent alteration of NIR-FAF signal and concomitant choriocapillaris rarefaction on OCTA were noted in the macula. The limited short-term response to combined systemic and topical CAIs might be explained by the impairment of the RPE-CC complex.


Assuntos
Oftalmopatias Hereditárias , Degeneração Macular , Doenças Retinianas , Humanos , Masculino , Tomografia de Coerência Óptica , Antagonistas de Receptores de Angiotensina , Estudos Prospectivos , Canais de Cloreto/genética , Proteínas do Olho/genética , Inibidores da Enzima Conversora de Angiotensina , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/genética , Angiofluoresceinografia , Bestrofinas/genética
19.
Invest Ophthalmol Vis Sci ; 65(6): 30, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38899961

RESUMO

Purpose: The purpose of this study was to investigate the clinical role of multi-signal quantitative optical coherence tomography angiography (OCTA) perfusion sampling in neovascular age-related macular degeneration (AMD). Methods: The study was designed as a cross-sectional case series. We collected data from already treated macular neovascularization (MNV), characterized by (I) clinically relevant recurrent exudation, (II) nonclinically relevant recurrent exudation, and (III) inactive lesion. We proposed a new OCTA metric, calculating the gap between high-resolution (HR) and high-speed (HS) OCTA samplings, hypothesizing that this gap might improve the detection of new secondary MNV branches, being also associated with exudation recurrence. Main outcome measures were the HR-HS gap-based categorization of MNV lesions and the assessment of its association with exudative, minimally exudative, and inactive lesions. Results: Our cohort (which consisted of 32 MNV eyes; 32 patients; mean disease duration 5 years) was classified as type 1 (17; 53%), type 2 (11; 34%), or mixed type (4; 13%) MNV. Subretinal fibrosis was found in 17 out of 32 eyes (53%), whereas outer retinal atrophy involved 22 of 32 eyes (69%). HR-HS MNV gap was significantly different among MNV subgroups: 18% for the exudative subgroup, 12% for the minimally exudative subgroup, and 4% for the inactive subgroup. HR-HS gap significantly correlated with best corrected visual acuity (BCVA), disease duration, fibrosis, and outer retinal atrophy. Conclusions: HR-HS gap is a novel quantitative metric to detect the secondary novel branches of AMD-related MNV. This parameter is clinically relevant because it is associated with fluid recurrence. The integration of HR-HS gap in artificial intelligence models might help to predict MNV reactivation and to optimize treatment strategies.


Assuntos
Angiofluoresceinografia , Recidiva , Tomografia de Coerência Óptica , Acuidade Visual , Degeneração Macular Exsudativa , Humanos , Tomografia de Coerência Óptica/métodos , Masculino , Feminino , Estudos Transversais , Idoso , Degeneração Macular Exsudativa/diagnóstico , Angiofluoresceinografia/métodos , Idoso de 80 Anos ou mais , Acuidade Visual/fisiologia , Inibidores da Angiogênese/uso terapêutico , Fundo de Olho , Estudos Retrospectivos , Pessoa de Meia-Idade , Exsudatos e Transudatos
20.
Eur J Ophthalmol ; 34(2): 357-366, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37113027

RESUMO

Retinitis pigmentosa (RP) is a group of inherited rod-cone dystrophies, noted for a high genotypical and phenotypical heterogeneity.Traditionally, VA, visual field, and electroretinography have been used to assess RP progression. However, visual acuity and visual field tests are essentially subjective and, especially in the late stages of the disease, are unable to confidently reveal minor progression. Therefore, there is a need for novel examination modalities that rely on quantitative, structural measurements. In this regard, several non-invasive imaging techniques have been studied, including spectral-domain optical coherence tomography, optical coherence tomography angiography, and fundus autofluorescence. By correlating surrogate biomarkers with functional measurements of the disease, these techniques may be able to develop reliable outcome meters that can be used to gain a deeper understanding of the underlying causes of the disease and to assess the effectiveness of therapy even before an actual loss of vision occurs.In this review, we will summarize the recent imaging findings and biomarkers that have been identified in RP patients. Our goal is to provide information that can promptly aid in selecting patients for clinical trials and new gene therapies, monitoring the disease progression, and evaluating treatment outcomes.


Assuntos
Retinose Pigmentar , Humanos , Retinose Pigmentar/diagnóstico por imagem , Retinose Pigmentar/genética , Eletrorretinografia , Campos Visuais , Tomografia de Coerência Óptica , Biomarcadores , Imagem Multimodal , Retina
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