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1.
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
2.
Am J Ophthalmol ; 265: 165-175, 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38710352

RESUMO

PURPOSE: The optimal management of pediatric traumatic macular holes (TMH) is unclear from lack of prospective randomized trials. The literature is divided into early (≤1month post-trauma), delayed (>1 month) pars plana vitrectomy (PPV), and observation. Our aim is to find which group can achieve best-superior spectacle corrected visual acuity (VA), visual gain, and time for hole closure. DESIGN: Systematic review. METHODS: This systematic review was registered with PROSPERO (ID:CRD42022383134). The databases searched from inception until July 31, 2023, were MEDLINE OVID, Scopus, Web of Science, Embase, and Google Scholar. The articles were screened for title and abstract then for full text. Risk of bias was also assessed. Three outcome measures were analyzed: final VA, visual gain, and time to closure of macular hole (MH). MH size was divided into small (≤250 µm), medium (>250-500 µm), and large (>500 µm). RESULTS: Ninety eight (98) studies with 234 patients in the PPV group and 87 patients in the observation group were included in the review. Final VA (logarithm of the minimum angle of resolution) and visual gain were respectively in PPV vs observation groups: (1) small MH 0.37 ± 0.52 vs 0.42 ± 0.56 (P = .484) and -0.96 ± 0.83 vs -0.49 ± 0.40 (P = .005); (2) medium MH 0.58 ± 0.39 vs 0.34 ± 0.34 (P = .06) and -0.36 ± 0.42 vs -0.74 ± 0.44 (P < .001); (3) large MH 0.62 ± 0.42 vs 0.59 ± 0.35 (P = .337) and -0.31 ± 0.48 vs -0.62 ± 0.37 (P = .11). Small TMH had comparable closure time: 3.21 ± 2.52 months vs 3.49 ± 4.43 (P = .954) in the PPV and observation groups. Early and late PPV yielded comparable final VA 0.67 ± 0.66 vs 0.54 ± 0.35 (P = .576) and visual gain -0.58 ± 0.69 vs -0.49 ± 0.48 (P = .242) in the PPV and observation groups. CONCLUSIONS: PPV was very effective in closing TMH and VA gain in children throughout a wide range of hole size. Early and delayed PPV yielded similar anatomic and visual results. Observation and PPV yielded comparable final VA and closure time. Clinicians can choose either early PPV or delayed PPV when healing biomarkers are absent on periodic optical coherence tomography.

3.
Eur J Ophthalmol ; : 11206721241247421, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38602021

RESUMO

PURPOSE: To compare non-syndromic and syndromic forms of USH2A-related retinitis pigmentosa (RP) by means of structural optical coherence tomography (OCT) and OCT-angiography (OCTA). METHODS: Observational, cross-sectional, multicenter study. All patients underwent best corrected visual acuity (BCVA) measurement, OCT (Spectralis HRA + OCT, Heidelberg Engineering) and OCTA (OCT DRI Topcon Triton, Topcon Corporation). We compared subfoveal choroidal thickness (SCT), choroidal vascularity index (CVI), presence of cystroid macular edema (CME), macular vessel density (VD) at the superficial and deep capillary plexa, as well as VD of the radial peripapillary capillary (RPC) network, between syndromic and non-syndromic patients with USH2A-associated retinopathy. RESULTS: Thirty-four eyes from 18 patients (7 females) were included. Thirteen patients (72.2%) were affected by Usher syndrome type 2, whereas the remaining 5 subjects (27.8%) had non-syndromic retinitis pigmentosa (nsRP). Syndromic patients were younger than nsRP (p = 0.01) and had a worse visual acuity than those with the exclusively retinal phenotype. Patients with Usher syndrome type 2 had a higher prevalence of CME and a thicker choroid compared to nsRP, although these results were not statistically significant (p = 0.775 and p = 0.122, respectively). Similarly, none of the other quantitative OCT and OCTA parameters was statistically different between the two groups. CONCLUSIONS: Despite their younger age, patients with Usher syndrome type 2 displayed similar choroidal and microvascular changes compared to those with nsRP.

4.
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
5.
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
6.
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
7.
Artigo em Inglês | MEDLINE | ID: mdl-38091605

RESUMO

PURPOSE: To report the acute onset of macular atrophy soon after photobiomodulation (PBM) administration in a patient with intermediate age-related macular degeneration (AMD). METHODS: Optical coherence tomography (OCT) was performed in the study eye before and after PBM. RESULTS: A patient with drusenoid pigment epithelium detachment (D-PED) underwent PBM. A few weeks after PBM the D-PED collapsed, resulting in incomplete retinal pigment epithelium and outer retinal atrophy with visual acuity worsening. CONCLUSION: Thinning of the outer retinal layers over a D-PED and posterior hypertrasmission may represent bad prognostic factors for PBM, accelerating the lesion's natural history towards atrophic evolution.

8.
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
10.
Transl Vis Sci Technol ; 12(5): 11, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37163285

RESUMO

Purpose: The development of optical coherence tomography angiography (OCTA) has radically changed the diagnostic assessment of the intraretinal vascular network. Two different OCTA acquisition modalities have recently been introduced in clinical practice, namely high-resolution (HR) and high-speed (HS) scans. HR OCTA requires more acquisition time and provides higher quality data, whereas HS OCTA is faster but furnishes lower quality data. The main aim of the present study is to gauge how much extra blood flow perfusion information can be obtained through the combined use of HR and HS OCTA. Methods: We compared HR and HS OCTA acquisitions to assess the reliability of both techniques, also putting forward a new set of quantitative metrics to measure the HR/HS OCTA gap and to highlight different perfusion information. Results: In essence, both HR and HS OCTA acquisitions proved highly feasible in detecting the intraretinal vascular flow signal, as confirmed by the stability of quantitative OCTA metrics, thus displaying their suitability for use in clinical practice. We detected an HR/HS overlapping gap of 21.6 ± 6.5% for intraretinal capillaries, and 4.3 ± 1.2% for choriocapillaris, highlighting the greater information obtained by HR OCTA. Conclusions: This novel HR/HS OCTA gap assessment might pave the way for the development of new quantitative metrics for retinal diseases that would focus on the earlier detection of perfusion impairment and relate it to the stage of the disease and its progression. Translational Relevance: This study proposes a new quantitative way to detect different perfusion signals based on OCTA. The findings presented in this paper can lay the foundations for the development of new quantitative metrics focused on the separate analysis of high flow and low flow signals, enabling very early changes in intraretinal perfusion to be detected.


Assuntos
Vasos Retinianos , Tomografia de Coerência Óptica , Angiofluoresceinografia/métodos , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Reprodutibilidade dos Testes , Perfusão
11.
Eur J Ophthalmol ; 33(6): NP6-NP9, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36755384

RESUMO

PURPOSE: To report a case of Pigmented Paravenous Chorioretinal Atrophy (PPCRA) associated with a novel RPGRIP1 dominant variant. METHODS: Case report. The patient underwent multimodal retinal imaging, including spectral-domain optical coherence tomography (OCT), OCT Angiography (OCTA), blue-light autofluorescence (BAF), and ultra-widefield pseudocolor retinography and autofluorescence. Genetic testing was performed using next-generation sequencing. RESULTS: A 67-year-old male presented with a clinical suspicion of retinitis pigmentosa. His best-corrected visual acuity was 20/32 in the right eye and 20/200 in the left eye. On fundus examination, paravenous pigment clumping and chorioretinal atrophy were seen bilaterally, matching confluent hypoautofluorescent areas departing from the optic disc. This clinical presentation suggested a case of PPCRA. Genetic testing found a heterozygous deletion of nucleotide 631 (c.631del) in the RPGRIP1 gene, a frameshift variant that generates a premature stop codon (p.Ser211Valfs*64) and therefore results in a truncated or absent protein product. The variant was regarded as likely pathogenic (class IV). CONCLUSION: In this report, we describe a case of PPCRA in association with a novel, likely pathogenic c.631del, p.Ser211Valfs*64 variant in RPGRIP1, a gene that has been associated with Leber congenital amaurosis and cone-rod dystrophy. Our case expands the spectrum of genes associated with PPCRA and prompts further studies to ascertain the molecular etiopathogenesis of this disease.

12.
Transl Vis Sci Technol ; 12(2): 1, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36723966

RESUMO

Purpose: This study assesses the repeatability of quantitative autofluorescence (qAF) in a multicenter setting and evaluates qAF as the end point for clinical trials in recessive Stargardt disease 1 (STGD1). Methods: A total of 102 patients with STGD1 underwent qAF imaging as part of the Stargardt Remofuscin Treatment Trial (STARTT; EudraCT No. 2018-001496-20). For 166 eyes, we obtained qAF imaging at 2 visits, with 2 recordings per visit. The qAF8 values were independently determined by the study site and a central reading center. Intra- and inter-visit reproducibility, as well as interobserver (study site versus reading center) reproducibility were obtained using intraclass correlation (ICC), one-sample t-test, and Bland-Altman coefficient of repeatability. Results: The qAF repeatability was ± 26.1% for intra-visit, ± 40.5% for inter-visit, and ± 20.2% for the interobserver reproducibility measures. Intra-visit repeatability was good to excellent for all sites (ICC of 0.88-0.96). Variability between visits was higher with an overall ICC of 0.76 (0.69-0.81). We observed no significant difference in qAF values across sites between visits (7.06 ± 93.33, P = 0.238). Conclusions: Real-life test-retest variability of qAF is higher in this set of data than previously reported in single center settings. With improved operator training and by selecting the better of two recordings for evaluation, qAF serves as a useful method for assessing changes in autofluorescence signal. Translational Relevance: The qAF can be adopted as a clinical trial end point, but steps to counterbalance variability should be considered.


Assuntos
Imagem Óptica , Epitélio Pigmentado da Retina , Humanos , Doença de Stargardt , Fundo de Olho , Oftalmoscopia/métodos , Reprodutibilidade dos Testes
13.
Ophthalmol Ther ; 12(2): 953-968, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36588113

RESUMO

INTRODUCTION: Photobiomodulation (PBM) represents a potential treatment for non-exudative age-related macular degeneration (AMD). PBM uses wavelengths of light to target components of the mitochondrial respiratory chain to improve cellular bioenergetic outputs. The aim of this study was to further investigate the effects of PBM on clinical, quality of life (QoL) and anatomical outcomes in subjects with intermediate stage non-exudative AMD. METHODS: The multicenter LIGHTSITE II study was a randomized clinical trial evaluating safety and efficacy of PBM in intermediate non-exudative AMD. The LumiThera Valeda® Light Delivery System delivered multiwavelength PBM (590, 660 and 850 nm) or sham treatment 3 × per week over 3-4 weeks (9 treatments per series) with repeated treatments at baseline (BL), 4 and 8 months. Subjects were enrolled with 20/32 to 20/100 best-corrected visual acuity (BCVA) and no central geographic atrophy (GA) within the central fovea (500 µm). RESULTS: LIGHTSITE II enrolled 44 non-exudative AMD subjects (53 eyes). PBM-treated eyes showed statistically significant improvement in BCVA at 9 months (n = 32 eyes, p = 0.02) with a 4-letter gain in the PBM-treated group versus a 0.5-letter gain in the sham-treated group (ns, p < 0.1) for patients that received all 27 PBM treatments (n = 29 eyes). Approximately 35.3% of PBM-treated eyes showed ≥ 5-letter improvement at 9 months. Macular drusen volume was not increased over time in the PBM-treated group but did show increases in the sham-treated group. While PBM and sham groups both showed GA lesion growth in the trial period, there was 20% less growth in the PBM group over 10 months, suggesting potential disease-modifying effects. No safety concerns or signs of phototoxicity were observed. CONCLUSION: These results confirm previous clinical testing of multiwavelength PBM and support treatment with Valeda as a novel therapy with a unique mechanism of action as a potential treatment for non-exudative AMD. TRIAL REGISTRATION: Clinicaltrial.Gov Registration Identifier: NCT03878420.

14.
Retin Cases Brief Rep ; 17(1): 74-79, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-33395020

RESUMO

PURPOSE: To describe the multimodal imaging characteristics of benign foveal depigmentation. METHODS: The study was designed as prospective observational case series. Patients with benign foveal depigmentation were prospectively investigated by means of multimodal imaging, including blue-light and near-infrared fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, color testing, microperimetry, and electrophysiology. The main outcome measures were vessel density and retinal pigment epithelium (RPE)/photoreceptor complex OCT reflectivity. RESULTS: Overall, 4 patients were identified, with bilateral and unilateral involvement in 1 case and 3 cases, respectively. Fundus autofluorescence provided variable results, showing more impairment on near-infrared fundus autofluorescence. Structural OCT revealed slight attenuation of the outer retinal bands in the area affected by benign foveal depigmentation, associated with choroidal hypertransmission, whereas enface OCT better delineated the attenuation of the reflectivity signal. The mean reflectivity intensity of RPE/photoreceptor complex was statistically significantly reduced in patients with respect to control subjects in the benign foveal depigmentation area. Optical coherence tomography angiography, color testing, microperimetry, electrooculogram, and electroretinogram findings were normal. CONCLUSION: Benign foveal depigmentation may represent a focal RPE disease. The limited alterations within the RPE band, as visualized on enface OCT and confirmed on near-infrared fundus autofluorescence, suggest an impairment in melanin production or distribution within the RPE cells.


Assuntos
Epitélio Pigmentado da Retina , Tomografia de Coerência Óptica , Humanos , Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodos , Eletrorretinografia , Imagem Multimodal , Transtornos da Visão
15.
Ophthalmic Genet ; 44(4): 408-413, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36226416

RESUMO

BACKGROUND: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) findings in patients with SB CSNB. METHODS: Prospective, observational case series including three patients with genetically confirmed CSNB along with matched controls, who underwent complete ophthalmic examination and multimodal imaging. RESULTS: On SD-OCT, a significant focal outer plexiform layer (OPL) thickening and a corresponding focal outer nuclear layer (ONL) thinning were identified in the macular area (p < 0.001). OCTA analysis overall showed decreased density of macular deep capillary plexus (mDCP) and macular choriocapillaris (mCC) (p = 0.008 and p = 0.033, respectively). DCP vessel density in the area corresponding to OPL thickening was significantly increased compared to the remaining retina (p < 0.001). CONCLUSION: SB CSNB is characterized by retinal vascular impairment, as detected on OCTA.


Assuntos
Cegueira Noturna , Humanos , Angiofluoresceinografia , Imagem Multimodal , Cegueira Noturna/diagnóstico , Cegueira Noturna/genética , Estudos Prospectivos , Retina/diagnóstico por imagem , Vasos Retinianos , Tomografia de Coerência Óptica
16.
Ophthalmic Genet ; 44(1): 49-53, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36239612

RESUMO

BACKGROUND: The diagnosis of inherited retinal diseases (IRDs) can only be confirmed through genetic testing. The aim of our study is to investigate the propensity of Italian patients affected by IRDs to undergo genetic testing. MATERIALS AND METHODS: One hundred and thirty-two patients diagnosed with IRDs referred to Italian Retina Onlus were enrolled from 1st January 2021 to 31th December 2021 in this cross-sectional study to answer to a twelve-item questionnaire. RESULTS: One hundred and four patients were aware of the possibility of taking a genetic test, and 94 of them did. Most of genetically tested patients (93.6%) had been informed about advantages and limitations of genetic investigations. The most common reason for undergoing genetic testing was to gather information for their relatives, while the most frequent reason for patients not taking the test was lack of someone who encourages them to do so. Most of genetically tested patients believed that the results could aid medical research in the search for a treatment for IRDs, while who did not undergo DNA testing often did not have a clear opinion on the topic. Almost all patients (98.9%) performed the test through the Italian National Health System. CONCLUSIONS: Our study investigated the tendency of Italian patients affected by IRDs to undergo genetic testing, highlighting the importance of educating both patients and healthcare professionals on this topic.


Assuntos
Pesquisa Biomédica , Doenças Retinianas , Humanos , Estudos Transversais , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética , Testes Genéticos , Retina
17.
Ophthalmol Retina ; 6(9): 753-761, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35202889

RESUMO

PURPOSE: To develop a consensus nomenclature for reporting OCT angiography (OCTA) findings in retinal vascular disease (e.g., diabetic retinopathy, retinal vein occlusion) by international experts. DESIGN: Delphi-based survey. SUBJECTS, PARTICIPANTS, AND/OR CONTROLS: Twenty-five retinal vascular disease and OCTA imaging experts. METHODS, INTERVENTION, OR TESTING: A Delphi method of consensus development was used, comprising 2 rounds of online questionnaires, followed by a face-to-face meeting conducted virtually. Twenty-five experts in retinal vascular disease and retinal OCTA imaging were selected to constitute the OCTA Nomenclature in Delphi Study Group for retinal vascular disease. The 4 main areas of consensus were: definition of the parameters of "wide-field (WF)" OCTA, measurement of decreased vascular flow on conventional and WF-OCTA, nomenclature of OCTA findings, and OCTA in retinal vascular disease management and staging. The study end point was defined by the degree of consensus for each question: "strong consensus" was defined as ≥85% agreement, "consensus" as 80% to 84%, and "near consensus" as 70% to 79%. MAIN OUTCOME MEASURES: Consensus and near consensus on OCTA nomenclature in retinal vascular disease. RESULTS: A consensus was reached that a meaningful change in percentage of flow on WF-OCTA imaging should be an increase or decrease ≥30% of the absolute imaged area of flow signal and that a "large area" of WF-OCTA reduced flow signal should also be defined as ≥30% of the absolute imaged area. The presence of new vessels and intraretinal microvascular abnormalities, the foveal avascular zone parameters, the presence and amount of "no-flow areas," and the assessment of vessel density in various retinal layers should be added for the staging and classification of diabetic retinopathy. Decreased flow ≥30% of the absolute imaged area should define an ischemic central retinal vein occlusion. Several other items did not meet consensus requirements or were rejected in the final discussion round. CONCLUSIONS: This study provides international consensus recommendations for reporting OCTA findings in retinal vascular disease, which may help to improve the interpretability and description in clinic and clinical trials. Further validation in these settings is warranted and ongoing. Efforts are continuing to address unresolved questions.


Assuntos
Retinopatia Diabética , Doenças Retinianas , Oclusão da Veia Retiniana , Retinopatia Diabética/diagnóstico , Angiofluoresceinografia/métodos , Humanos , Doenças Retinianas/diagnóstico , Oclusão da Veia Retiniana/diagnóstico , Vasos Retinianos , Tomografia de Coerência Óptica/métodos
18.
Artigo em Inglês | MEDLINE | ID: mdl-37641639

RESUMO

Background: Vascular endothelial growth factor (VEGF) is a significant modulator of ocular angiogenesis, including that of neovascular age-related macular degeneration (nAMD). Intravitreal injection of anti-VEGF is the benchmark treatment for most retinal vascular diseases, including nAMD, diabetic maculopathy, and macular edema secondary to retinal venous occlusion. Anti-VEGF treatment is a high-frequency, time-consuming, non-cost-effective therapy, especially in countries and regions with limited resources. This treatment is easily restricted, and in practice, maintaining long-term periodic care is challenging for patients. Hypothesis: Light peripheral panretinal photocoagulation (PPRP) is applied in a mild form (barely visible mild light gray mark) anterior to the equator so as not to jeopardize the visual field. PPRP lessens the ischemia that causes neovascularization and decreases the metabolic demand in the peripheral retina. PPRP reduces serum angiopoietin-2 and VEGF levels in patients with type 2 diabetes mellitus with proliferative diabetic retinopathy. We propose using light PPRP to suppress VEGF secretion, aiming to attenuate the VEGF drive and halt choroidal neovascular growth in eyes with nAMD. Our regimen is based on two concepts: first, nAMD is a diffuse or generalized disease that affects the posterior segment; and second, PPRP is very effective in regressing diabetic retinopathy. PPRP has reportedly been successful in cases of macular edema (diabetic or following venous occlusion) resistant to VEGF antagonists. Light PPRP may be used as prophylaxis, adjunctive treatment, or monotherapy in nAMD when intravitreal injections of VEGF antagonists are not feasible. Conclusions: The established light PPRP therapy could be promising as a one-time, cost-effective therapy or prophylaxis in patients with nAMD or at high risk. This proposed modality could be suitable for patients who have injection phobia or prefer a one-time affordable therapy to the long-term monthly visits to retinologists. Future trials are necessary to verify the safety and efficacy of this proposed treatment modality in selected patients with nAMD.

19.
Br J Ophthalmol ; 106(4): 564-567, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-33293267

RESUMO

BACKGROUND: To analyse multimodal imaging alterations in the subclinical form of best vitelliform macular dystrophy (BVMD). METHODS: The study was designed as an observational, cross-sectional case series. Eleven eyes of 7 subclinical patients with BVMD and 12 age-matched and sex-matched controls were included. Multimodal imaging included fundus blue-light autofluorescence, near-infrared autofluorescence (NIR-AF), structural optical coherence tomography (OCT) and OCT angiography (OCTA). The quantitative analysis included the calculation of the following parameters: vessel density (VD), vessel tortuosity (VT), vessel dispersion (Vdisp), vessel rarefaction (VR), foveal avascular zone (FAZ) area, reflectivity of the outer retinal bands and choriocapillaris porosity (CCP). RESULTS: Mean best-corrected visual acuity was 0.0±0.0 LogMAR in both groups. The round central hypoautofluorescent alteration on NIR-AF corresponded to a significant reflectivity attenuation of the outer retinal bands on structural OCT (0.55±0.18 vs 0.75±0.08; p<0.001). VD, VT, VR and Vdisp were normal compared with controls (all p>0.05). The FAZ area turned out to be significantly restricted at the level of the deep capillary plexus in subclinical BVMD eyes (p<0.001). Furthermore, quantitative OCTA revealed a significant central increase of CCP, compared with controls (18.25±2.43 vs 4.58±1.36; p<0.001). CONCLUSIONS: The subclinical stage of BVMD is characterised by significant alterations of the outer retinal bands and the choriocapillaris. Quantitative multimodal imaging assessment suggests that subclinical BVMD is affected by the functional impairment of the outer retinal structures, leading to an alteration in melanin and growth factor production.


Assuntos
Distrofia Macular Viteliforme , Estudos Transversais , Angiofluoresceinografia/métodos , Humanos , Imagem Multimodal , Vasos Retinianos , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Distrofia Macular Viteliforme/diagnóstico por imagem
20.
Br J Ophthalmol ; 106(10): 1463-1468, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-33926863

RESUMO

PURPOSE: To ascertain the anatomic factors that help achieve non-surgical sealing in full thickness macular hole (FTMH). METHODS: Retrospective collaborative study of FTMH that closed without surgical intervention. RESULTS: A total of 78 patients (mean age 57.9 years) included 18 patients with blunt ocular trauma, 18 patients that received topical or intravitreal therapies and 42 patients with idiopathic FTMH. Mean±SD of the initial corrected visual acuity (VA) in logMAR improved from 0.65±0.54 to 0.34±0.45 (p<0.001) at a mean follow-up of 33.8±37.1 months. FTMH reopened in seven eyes (9.0%) after a mean of 8.6 months. Vitreomacular traction was noted in 12 eyes (15.8%), perifoveal posterior vitreous detachment in 42 (53.8%), foveal epiretinal membrane in 10 (12.8%), cystoid macular oedema (CME) in 49 (62.8%) and subretinal fluid (SRF) in 20 (25.6%). By multivariate analysis, initial VA correlated to the height (p<0.001) and narrowest diameter of the hole (p<0.001) while final VA correlated to the basal diameter (p<0.001). Time for closure of FTMH (median 2.8 months) correlated to the narrowest diameter (p<0.001) and the presence of SRF (p=0.001). Mean time for closure (in months) was 1.6 for eyes with trauma, 4.3 for eyes without trauma but with therapy for CME, 4.4 for eyes without trauma and without therapy in less than 200 µm in size and 24.7 for more than 200 µm. CONCLUSION: Our data suggest an observation period in new onset FTMH for non-surgical closure, in the setting of trauma, treatment of CME and size <200 µm.


Assuntos
Perfurações Retinianas , Ferimentos não Penetrantes , Fóvea Central , Humanos , Pessoa de Meia-Idade , Perfurações Retinianas/diagnóstico , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Acuidade Visual , Vitrectomia , Ferimentos não Penetrantes/diagnóstico , Ferimentos não Penetrantes/cirurgia
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