RESUMO
Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs and systems. Ocular involvement is estimated to manifest in one-third of individuals with SLE, of which lupus retinopathy and choroidopathy represent the severe subtype accompanied by vision impairment. Advancements in multimodal ophthalmic imaging have allowed ophthalmologists to reveal subclinical microvascular and structural changes in fundus of patients with SLE without ocular manifestations. Both ocular manifestations and subclinical fundus damage have been shown to correlate with SLE disease activity and, in some patients, even precede other systemic injuries as the first presentation of SLE. Moreover, ocular fundus might serve as a window into the state of systemic vasculitis in patients with SLE. Given the similarities of the anatomy, physiological and pathological processes shared among ocular fundus, and other vital organ damage in SLE, such as kidney and brain, it is assumed that ocular fundus involvement has implications in the diagnosis and evaluation of other systemic impairments. Therefore, evaluating the fundus characteristics of patients with SLE not only contributes to the early diagnosis and intervention of potential vision damage, but also holds considerate significance for the evaluation of SLE vasculitis state and prediction of other systemic injuries.
Assuntos
Fundo de Olho , Lúpus Eritematoso Sistêmico , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Doenças Retinianas/etiologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/patologia , Doenças da Coroide/etiologia , Doenças da Coroide/diagnósticoRESUMO
Fundus imaging plays a pivotal role in diagnosing retinal and choroidal diseases. Optical coherence tomography angiography (OCTA), by capturing signals to reconstruct vascular structures, offers a clear depiction of retinal vasculature with notable advantages such as rapid scanning and non-invasiveness. Although OCTA, due to its underlying principles, cannot dynamically assess vascular function, exploring its future applications and potential to eventually replace traditional fundus angiography remains a key focus in the medical community. OCTA provides multiple parameters that conventional fundus angiography cannot obtain. With the expanding coverage area of OCTA scans and improvements in artifact elimination, the detection rate of various retinal and choroidal diseases has significantly increased, making the widespread clinical application of OCTA an inevitable trend. Although ultra-widefield OCTA cannot yet fully replace angiography in clinical practice, with continued clinical practice, expanded clinical research, and ongoing technological innovation, OCTA is expected to gradually replace fundus angiography in the future.
Assuntos
Angiofluoresceinografia , Fundo de Olho , Doenças Retinianas , Tomografia de Coerência Óptica , Tomografia de Coerência Óptica/métodos , Humanos , Angiofluoresceinografia/métodos , Doenças Retinianas/diagnóstico por imagem , Doenças da Coroide/diagnóstico por imagem , Vasos Retinianos/diagnóstico por imagemRESUMO
PURPOSE: To investigate the functional and structural outcomes after treatment with prednisolone eye drops in the following pachychoroid-related diseases: chronic central serous chorioretinopathy, pachychoroid pigment epitheliopathy, and peripapillary pachychoroid syndrome. METHODS: In this retrospective study, 54 eyes of 48 patients with pachychoroid-related disease were treated with prednisolone acetate 1% eye drops 3 times a day. Change in macular volume and retinal central subfield thickness on optical coherence tomography was measured. In addition, the foveal or complete resolution of fluid and the change in visual acuity were studied. RESULTS: The follow-up visit was at a mean of 41.2 ± 14.5 days. In the 44 eyes with chronic central serous chorioretinopathy, a significant reduction in retinal central subfield thickness ( P < 0.001) and macular volume ( P < 0.001) was observed. Foveal intra- or subretinal fluid resolved completely in 22% of the eyes. In the 8 peripapillary pachychoroid syndrome eyes, a reduction in the nasal retinal thickness was observed ( P = 0.025). One of the 2 pachychoroid pigment epitheliopathy eyes showed structural improvement. No significant change in visual acuity was observed in any of the pachychoroid spectrum diseases. CONCLUSION: In patients with chronic central serous chorioretinopathy, peripapillary pachychoroid syndrome, and pachychoroid pigment epitheliopathy, anatomical improvement was observed after therapy with prednisolone eye drops. Visual acuity did not change significantly.
Assuntos
Coriorretinopatia Serosa Central , Glucocorticoides , Soluções Oftálmicas , Prednisolona , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Estudos Retrospectivos , Masculino , Feminino , Prednisolona/análogos & derivados , Prednisolona/uso terapêutico , Prednisolona/administração & dosagem , Pessoa de Meia-Idade , Tomografia de Coerência Óptica/métodos , Coriorretinopatia Serosa Central/tratamento farmacológico , Coriorretinopatia Serosa Central/diagnóstico , Coriorretinopatia Serosa Central/fisiopatologia , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Idoso , Adulto , Angiofluoresceinografia/métodos , Seguimentos , Doenças da Coroide/tratamento farmacológico , Doenças da Coroide/diagnósticoRESUMO
An 84-year-old man presented with decreased right-eye visual acuity. Upon initial examination, the rightand left-eye visual acuities were 0.03 and 1.2, respectively; moreover, the right- and left-eye intraocular pressure was 12 mmHg and 13 mmHg, respectively. Examination revealed a shallow anterior chamber of the right eye, anterior chamber inflammation, vitreous opacity, and marked retinochoroidal detachment. Optical coherence tomography (OCT) revealed retinal detachment (RD) and choroidal folds; moreover, B-scan ultrasonography (B-scan) showed RD as well as thickened sclera with fluid in Tenon's space. Fluorescent fundus angiography revealed hyperfluorescence in the optic disc and vascular hyperpermeability in the right eye. The left eye lacked extra-ocular symptoms or abnormalities. The right ocular axis measured 23.4 mm with no apparent subretinal fluid migration due to positional changes. Accordingly, the patient was diagnosed with panuveitis associated with posterior scleritis and immediately started on 40 mg prednisolone, which improved his symptoms. However, at 3 post-treatment months, choroidal folds were observed and was restarted on 20 mg prednisolone. The choroidal folds subsequently disappeared, with a current visual acuity of 0.3 in the right eye and no recurrence. Our findings indicated the utility of accurate diagnosis of posterior scleritis by B-scan and prompt systemic steroid administration.
Assuntos
Pan-Uveíte , Prednisolona , Descolamento Retiniano , Esclerite , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Masculino , Esclerite/etiologia , Esclerite/diagnóstico , Esclerite/diagnóstico por imagem , Esclerite/complicações , Descolamento Retiniano/etiologia , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/diagnóstico , Idoso de 80 Anos ou mais , Pan-Uveíte/diagnóstico , Pan-Uveíte/etiologia , Pan-Uveíte/complicações , Prednisolona/administração & dosagem , Resultado do Tratamento , Angiofluoresceinografia/métodos , Corioide/diagnóstico por imagem , Corioide/patologia , Doenças da Coroide/etiologia , Doenças da Coroide/diagnóstico por imagem , Doenças da Coroide/diagnóstico , Doenças da Coroide/complicaçõesRESUMO
Objectives: Yasunari nodules are choroidal lesions observed in patients diagnosed with neurofibromatosis type 1 (NF-1) and characterized by relatively irregular dome-shaped, plaque-like, or patchy boundaries. The present study examines the multimodal imaging characteristics of Yasunari nodules and their value in the diagnosis of NF-1. Materials and Methods: Medical records including optical coherence tomography (OCT), enhanced depth imaging OCT, infrared reflectance (IR) imaging, OCT angiography, and color fundus images of NF-1 patients who were examined at the Department of Ophthalmology in Dokuz Eylül University Faculty of Medicine between January 2022 and December 2023 were retrospectively reviewed for the presence of Yasunari nodules. Results: A total of 54 eyes of 27 patients were included in the study. At least one choroidal nodule was detected on IR imaging in 52 eyes (96.3%). In 31 (72.1%) of the 43 eyes (79.6%) with available high-quality OCT angiography images, choroidal nodules were observed as areas showing a flow deficit in the choriocapillaris layer. Of the total 54 eyes included, Lisch nodules without choroidal nodules were observed in 2 eyes (3.7%). In 16 eyes (29.6%), Lisch nodules were not detected despite the presence of choroidal nodules. Both Lisch nodules and choroidal nodules were detected in the other 36 eyes (66.7%). Conclusion: Yasunari nodules are frequently observed in NF-1 cases and can be easily detected with multimodal imaging techniques, especially IR imaging. The ability to visualize choroidal nodules before the appearance of Lisch nodules demonstrates the importance of Yasunari nodules in the diagnosis of NF-1.
Assuntos
Angiofluoresceinografia , Imagem Multimodal , Neurofibromatose 1 , Tomografia de Coerência Óptica , Humanos , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/complicações , Feminino , Masculino , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos , Adulto , Angiofluoresceinografia/métodos , Adolescente , Pessoa de Meia-Idade , Adulto Jovem , Criança , Corioide/patologia , Corioide/diagnóstico por imagem , Doenças da Coroide/diagnóstico , Fundo de OlhoAssuntos
Corioide , Angiofluoresceinografia , Descolamento Retiniano , Epitélio Pigmentado da Retina , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Descolamento Retiniano/cirurgia , Angiofluoresceinografia/métodos , Epitélio Pigmentado da Retina/patologia , Corioide/patologia , Corioide/anormalidades , Corioide/diagnóstico por imagem , Drusas Retinianas/diagnóstico , Drusas Retinianas/complicações , Drusas Retinianas/etiologia , Fundo de Olho , Acuidade Visual , Masculino , Doenças da Coroide/diagnóstico , Doenças da Coroide/etiologia , FemininoRESUMO
Purpose: Recent studies have shown that the retinal pigment epithelium (RPE) relies on fatty acid oxidation (FAO) for energy, however, its role in overall retinal health is unknown. The only FAO disorder that presents with chorioretinopathy is long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). Studying the molecular mechanisms can lead to new treatments for patients and elucidate the role of FAO in the RPE. This paper characterizes the chorioretinopathy progression in a recently reported LCHADD mouse model. Methods: Visual assessments, such as optokinetic tracking and fundus imaging, were performed in wildtype (WT) and LCHADD mice at 3, 6, 10, and 12 months of age. Retinal morphology was analyzed in 12-month retinal cross-sections using hematoxylin and eosin (H&E), RPE65, CD68, and TUNEL staining, whereas RPE structure was assessed using transmission electron microscopy (TEM). Acylcarnitine profiles were measured in isolated RPE/sclera samples to determine if FAO was blocked. Bulk RNA-sequencing of 12 month old male WT mice and LCHADD RPE/sclera samples assessed gene expression changes. Results: LCHADD RPE/sclera samples had a 5- to 7-fold increase in long-chain hydroxyacylcarnitines compared to WT, suggesting an impaired LCHAD step in long-chain FAO. LCHADD mice have progressively decreased visual performance and increased RPE degeneration starting at 6 months. LCHADD RPE have an altered structure and a two-fold increase in macrophages in the subretinal space. Finally, LCHADD RPE/sclera have differentially expressed genes compared to WT, including downregulation of genes important for RPE function and angiogenesis. Conclusions: Overall, this LCHADD mouse model recapitulates early-stage chorioretinopathy seen in patients with LCHADD and is a useful model for studying LCHADD chorioretinopathy.
Assuntos
Modelos Animais de Doenças , Epitélio Pigmentado da Retina , Animais , Camundongos , Epitélio Pigmentado da Retina/metabolismo , Epitélio Pigmentado da Retina/patologia , Camundongos Endogâmicos C57BL , 3-Hidroxiacil-CoA Desidrogenase de Cadeia Longa/metabolismo , Doenças da Coroide/genética , Doenças da Coroide/metabolismo , Masculino , Doenças Retinianas/genética , Doenças Retinianas/metabolismo , Doenças Retinianas/fisiopatologia , Microscopia Eletrônica de TransmissãoRESUMO
This study aimed to evaluate visual function and perform multimodal imaging on patients with focal choroidal excavation without any chorioretinal disease (idiopathic focal choroidal excavation [iFCE]). Seventeen eyes of 15 patients with iFCE (8 men, 7 women; mean ± standard deviation age, 56.0 ± 10.8 years) were assessed for visual function including visual acuity, metamorphopsia, aniseikonia, and retinal sensitivity. Multimodal imaging included optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT angiography. This study found that the maximum width and depth of the excavation were 597 ± 330 (238-1809) µm and 123 ± 45 (66-231) µm, respectively, and that FAF showed normal or hypoautofluorescence corresponding to iFCE. The fundus examination findings were stable during the follow-up period (96 ± 48 months). None of the eyes showed any abnormalities in central retinal sensitivity or aniseikonia. Metamorphopsia was detected using Amsler grid testing and M-CHARTS in two eyes. Therefore, this study is the first to quantitatively and qualitatively study metamorphopsia of patients with iFCE. Our results showed that most patients with iFCE did not have visual impairments, despite the presence of morphological changes in the outer retina and choroid.
Assuntos
Doenças da Coroide , Imagem Multimodal , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Pessoa de Meia-Idade , Feminino , Masculino , Imagem Multimodal/métodos , Tomografia de Coerência Óptica/métodos , Idoso , Adulto , Doenças da Coroide/diagnóstico por imagem , Doenças da Coroide/patologia , Corioide/diagnóstico por imagem , Corioide/patologia , Angiofluoresceinografia/métodos , Retina/diagnóstico por imagem , Retina/patologia , Transtornos da Visão/diagnóstico por imagemRESUMO
PURPOSE: This study aims to present long-term observation of 5 eyes with focal choroidal excavation (FCE), focusing on morphological changes in conformity of the lesion. METHODS: A retrospective case series was conducted, including 5 eyes of 5 patients with FCE. The study utilized multimodal imaging including color fundus photography, optical coherence tomography (OCT), enhanced depth imaging OCT (EDI-OCT), fundus fluorescein angiography (FFA), fundus autofluorescence (FAF), red free imaging, and OCT angiography. RESULTS: The mean age at diagnosis was 51 ± 10.65 years, with a mean follow-up period 37 ± 13.59 months. All cases were unilateral, with 1 presenting FCE as an isolated lesion, and one patient exhibiting 2 FCEs in one eye. The mean choroidal thickness measured by EDI-OCT was 268.2 ± 63.39 µm in the affected eye. One patient displayed choroidal thickening and pachyvessels. Of the 5 eyes, one had conforming and 4 non-conforming FCE. We observed a conversion in conformity in all patients, with 4 cases transitioning from non-conforming FCE to conforming type (3 spontaneously, 1 treatment-induced). In conforming FCE, a hyporeflective space appeared twice between neuroretina and retinal pigment epithelium with spontaneous regression. CONCLUSION: We observed change in shape from the conforming to non-conforming FCE and vice versa in all patients. We consider this small change in the hyporeflective space as non-pathologic and clinically insignificant.
Assuntos
Coriorretinopatia Serosa Central , Doenças da Coroide , Humanos , Adulto , Pessoa de Meia-Idade , Doenças da Coroide/diagnóstico por imagem , Doenças da Coroide/patologia , Seguimentos , Estudos Retrospectivos , Coriorretinopatia Serosa Central/patologia , Corioide/patologia , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodosRESUMO
PURPOSE: To evaluate the efficacy of intravitreal brolucizumab in polyp regression of treatment-naive polypoidal choroidal vasculopathy (PCV) patients and its effect on 1-year treatment outcome. METHODS: Medical records of 31 treatment-naive PCV patients, who received three monthly intravitreal brolucizumab injections followed by as-needed injections for at least a year, were retrospectively reviewed. Visual and anatomical outcomes were evaluated at 3, 6, and 12 months. Complete polyp regression rate and percentage change of vascular lesion and polyp area were evaluated after three monthly injections of brolucizumab. The effect of complete polyp regression and the impact of vascular lesion and polyp reduction rate on 1-year treatment outcome were also evaluated. RESULTS: In terms of visual outcome, best-corrected visual acuity significantly improved after 12-month follow-up (p < 0.001). In terms of anatomical outcome, central macular thickness (CMT) and central choroidal thickness significantly decreased after 12-month follow-up (p < 0.001). Complete polyp regression was observed in 23 patients (74.2%) after three monthly injections. Group with complete polyp regression had a higher rate of achieving dry macula at 3 months (p = 0.026) and fewer number of injections (p < 0.001) compared to the group without complete polyp regression. Higher polyp reduction rate was significantly associated with higher CMT change from baseline at 3 months (p = 0.048) while higher vascular lesion reduction rate was significantly associated with higher CMT change from baseline at 12 months (p = 0.031) and fewer number of injections (p = 0.012). CONCLUSIONS: Intravitreal brolucizumab injection effectively improved visual and anatomical outcomes and achieved significant polyp regression in treatment-naive PCV patients. Complete polyp regression and the reduction rate of vascular lesion size and polyp size after loading injection significantly influence the treatment outcome of PCV patients. However, careful monitoring and preoperative warning is warranted due to occurrence of brolucizumab-related IOI.
Assuntos
Inibidores da Angiogênese , Anticorpos Monoclonais Humanizados , Corioide , Angiofluoresceinografia , Injeções Intravítreas , Pólipos , Tomografia de Coerência Óptica , Acuidade Visual , Humanos , Masculino , Feminino , Estudos Retrospectivos , Pólipos/tratamento farmacológico , Pólipos/diagnóstico , Angiofluoresceinografia/métodos , Inibidores da Angiogênese/administração & dosagem , Idoso , Tomografia de Coerência Óptica/métodos , Corioide/irrigação sanguínea , Corioide/patologia , Resultado do Tratamento , Seguimentos , Anticorpos Monoclonais Humanizados/administração & dosagem , Anticorpos Monoclonais Humanizados/uso terapêutico , Pessoa de Meia-Idade , Fundo de Olho , Neovascularização de Coroide/tratamento farmacológico , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/fisiopatologia , Fatores de Tempo , Doenças da Coroide/tratamento farmacológico , Doenças da Coroide/diagnóstico , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Vasculopatia Polipoidal da CoroideAssuntos
Calcinose , Doenças da Coroide , Achados Incidentais , Doenças da Esclera , Humanos , Calcinose/patologia , Calcinose/diagnóstico , Calcinose/diagnóstico por imagem , Doenças da Esclera/patologia , Doenças da Esclera/etiologia , Doenças da Esclera/diagnóstico , Doenças da Coroide/patologia , Doenças da Coroide/diagnóstico , Doenças da Coroide/diagnóstico por imagem , Masculino , Feminino , Diagnóstico Diferencial , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Although choroidal thickening was reported as a sign of active inflammation in ocular sarcoidosis, there has been no research on the choroidal changes in non-ocular sarcoidosis (defined as systemic sarcoidosis without overt clinical signs of ocular involvement). Therefore, this study aimed to investigate choroidal structural changes in patients with non-ocular sarcoidosis. METHODS: This retrospective case-control study was conducted at Asan Medical Center, a tertiary referral center. We evaluated 30 eyes with non-ocular sarcoidosis and their age- and spherical equivalent-matched healthy control eyes. The subfoveal choroidal thickness, area ratio (Sattler layer-choriocapillaris complex [SLCC] area to Haller layer [HL] area), and choroidal vascularity index (CVI, luminal area to choroidal area) were analyzed using enhanced depth imaging in optical coherence tomography. Systemic and ocular factors associated with the choroidal thickness were investigated. RESULTS: Compared with the healthy control group, the non-ocular sarcoidosis group had significantly thicker subfoveal choroid (total and all sublayers [SLCC and HL]) and lower area ratio. There were no significant differences in the CVIs at all sublayers between groups. In the non-ocular sarcoidosis group, eyes under oral steroid treatment had thinner choroid than eyes under observation. In the control group, eyes with older age and more myopic spherical equivalent had thinner choroidal thickness. CONCLUSION: Total and all sublayers of the subfoveal choroid were significantly thicker without significant vascularity changes in non-ocular sarcoidosis eyes than in healthy control eyes. The degree of choroidal thickening was disproportionally greater at HL than at SLCC. These characteristic choroidal changes may be the subclinical manifestations in non-ocular sarcoidosis.
Assuntos
Doenças da Coroide , Corioide , Sarcoidose , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos , Masculino , Feminino , Sarcoidose/diagnóstico , Sarcoidose/complicações , Sarcoidose/diagnóstico por imagem , Pessoa de Meia-Idade , Corioide/patologia , Corioide/diagnóstico por imagem , Corioide/irrigação sanguínea , Estudos de Casos e Controles , Doenças da Coroide/diagnóstico , Doenças da Coroide/etiologia , Doenças da Coroide/diagnóstico por imagem , Adulto , Idoso , Acuidade VisualRESUMO
This study aims to investigate the relationship between pachychoroid spectrum disorders and retinitis pigmentosa (RP) or rod-cone dystrophy through a comprehensive literature review. The purpose is to explore the association between these disorders, understand their underlying mechanisms, and summarize the existing hypotheses and opinions. A thorough review of the literature was conducted using PubMed, focusing on articles related to central serous chorioretinopathy (CSC), RP, pachychoroid pigment epitheliopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy, focal choroidal excavation, peripapillary pachychoroid neovasculopathy, and peripheral exudative hemorrhagic chorioretinopathy. Relevant studies were selected for a detailed narrative review and analysis. Several studies have reported the coexistence of CSC and RP, indicating a potential association between the two conditions. The dysfunction of the retinal pigment epithelium is proposed as a common factor. Choroidal thinning is observed in RP, but conflicting results exist regarding choroidal thickness (CT). While some studies support choroidal thinning in RP, others suggest preserved or increased thickness. Additionally, cases of pachychoroid neovasculopathy and polypoidal choroidal vasculopathy in RP have been reported, suggesting an overlap between these conditions. The literature suggests conflicting reports on CT changes in RP. Future research should focus on large-scale studies using comprehensive imaging techniques, genetic analysis, and long-term follow-up to uncover the underlying mechanisms and determine the prevalence of pachychoroid spectrum disorders in RP patients.
Assuntos
Corioide , Angiofluoresceinografia , Fundo de Olho , Retinose Pigmentar , Tomografia de Coerência Óptica , Humanos , Retinose Pigmentar/diagnóstico , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodos , Corioide/irrigação sanguínea , Corioide/patologia , Corioide/diagnóstico por imagem , Doenças da Coroide/diagnóstico , Epitélio Pigmentado da Retina/patologia , Coriorretinopatia Serosa Central/diagnóstico , Acuidade VisualAssuntos
Coriorretinopatia Serosa Central , Doenças da Coroide , Humanos , Epitélio Pigmentado da Retina/diagnóstico por imagem , Doenças da Coroide/complicações , Doenças da Coroide/diagnóstico , Hipertrofia/diagnóstico , Hipertrofia/congênito , Tomografia de Coerência Óptica , Angiofluoresceinografia , Corioide/diagnóstico por imagem , Corioide/anormalidadesRESUMO
A 65-year-old man presented with decreased visual acuity in the left eye for 1 month. The diagnosis of hemorrhagic retinal detachment (submacular hemorrhage), which was caused by idiopathic polypoid choroidal vasculopathy, was confirmed by the ultra-wide-angle fundus examination, optical coherence tomography, and B-ultrasound. A vitrectomy combined with an ophthalmic surgical robot-assisted retinal puncture and injection was performed. The recombinant tissue plasminogen activator was injected accurately by the ophthalmic surgical robot between the retinal nerve epithelium and retinal pigment epithelium through a micro-injection needle. During the 2-month follow-up, the subretinal hemorrhage was significantly regressive, the visual acuity of the left eye was improved from hand movement to 0.1, and no other complications were observed. (This article was published ahead of print on the official website of Chinese Journal of Ophthalmology on March 15, 2024).
Assuntos
Doenças da Coroide , Hemorragia Retiniana , Humanos , Masculino , Idoso , Hemorragia Retiniana/etiologia , Doenças da Coroide/etiologia , Vitrectomia/métodos , Ativador de Plasminogênio Tecidual/uso terapêutico , Ativador de Plasminogênio Tecidual/administração & dosagem , Corioide , Acuidade Visual , Punções , Procedimentos Cirúrgicos Robóticos/métodos , Descolamento Retiniano/etiologia , Retina , Tomografia de Coerência ÓpticaAssuntos
Doenças da Coroide , Granuloma , Sarcoidose , Humanos , Sarcoidose/diagnóstico , Sarcoidose/complicações , Sarcoidose/patologia , Granuloma/diagnóstico , Granuloma/patologia , Doenças da Coroide/diagnóstico , Doenças da Coroide/patologia , Doenças da Coroide/etiologia , Feminino , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.
This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.
Assuntos
Síndrome de Alagille , Proteína Jagged-1 , Humanos , Síndrome de Alagille/genética , Síndrome de Alagille/complicações , Síndrome de Alagille/diagnóstico , Síndrome de Alagille/patologia , Proteína Jagged-1/genética , Masculino , Criança , Tomografia de Coerência Óptica , Doenças da Coroide/genética , Doenças da Coroide/diagnóstico , Angiofluoresceinografia , Acuidade Visual/fisiologia , Atrofia , Macula Lutea/patologia , Macula Lutea/anormalidades , Corioide/patologia , Corioide/anormalidadesRESUMO
Intrachoroidal cavitation is a finding identified with OCT initially described in myopic patients, it also appears in non-myopic patients. It can occur in both the peripapillary area and the posterior pole. Macular coloboma is a defect of embryonic development of the posterior pole, in structural OCT the absence of the retinal pigment epithelium and choroidal vessels is essential. In this case, intrachoroidal cavitation circumscribes the macular coloboma, in the absence of an intercalary membrane. The en face image allows us to assess the relationship between the two structures as well as their magnitude.
Assuntos
Doenças da Coroide , Coloboma , Macula Lutea/anormalidades , Miopia , Humanos , Corioide/diagnóstico por imagem , Coloboma/diagnóstico por imagem , Doenças da Coroide/diagnóstico por imagemRESUMO
We present a case report on sclerochoroidal calcification (SCC), a rare condition involving calcium pyrophosphate deposits in the posterior pole of the eye in a 70-year-old patient. We provide an account of the clinical presentation and its appearance in multimodal images, using color fundus photography, swept-source optical coherence tomography (SS-OCT), ocular ultrasound, and the novel retro-mode imaging (RMI) technique. Visual acuity was 20/25 in the right eye (OD) and 20/20 in the left eye (OS). Color fundus photography revealed yellowish deposits located in the upper temporal arcade of both eyes. SS-OCT demonstrated masses of scleral origin. Ocular ultrasounds confirmed the calcification of these masses. RMI detected hyper-reflective images with marked superficial elevation. Systemic laboratory results did not detect any abnormalities, leading to the diagnosis of bilateral idiopathic SCC.