RESUMEN
BACKGROUND: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant systemic microvascular disorder attributed to TREX1 (three-prime repair exonuclease-1) gene mutations, often proned to misdiagnosed. METHODS: We reported a case of RVCL-S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary and discussion of previously documented cases related to TREX1 mutations or RVCL-S. RESULTS: A 39-year-old female patient visited the clinic due to progressive memory loss and speech difficulties. Magnetic resonance imaging results showed corpus callosum atrophy and multiple subcortical calcifications in both brain hemispheres. Genetic testing revealed a TREX1 gene mutation (c.294dupA). Treatment with immunosuppressive therapy for 2 months led to improvements in communication and mobility. We also summarized previously reported cases providing an overview of TREX1 gene mutation or RCVL-S. CONCLUSION: Our case establishes a compelling foundation for future RVCL-S diagnosis and treatment paradigms. Notably, conducting systemic immunity screening in patients with RVCL-S emerges as a strategic approach to prevent potential diagnostic oversights.
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Exodesoxirribonucleasas , Leucoencefalopatías , Lupus Eritematoso Sistémico , Mutación , Humanos , Femenino , Adulto , Exodesoxirribonucleasas/genética , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/genética , Leucoencefalopatías/diagnóstico , Leucoencefalopatías/genética , Leucoencefalopatías/etiología , Fosfoproteínas/genética , Errores Diagnósticos/prevención & control , Imagen por Resonancia Magnética , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Enfermedades de la Retina , Enfermedades Vasculares , Enfermedades Desmielinizantes del Sistema Nervioso Central HereditariasRESUMEN
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Antituberculosos , Tuberculosis Ocular , Humanos , Australia Occidental/epidemiología , Estudios Retrospectivos , Femenino , Masculino , Antituberculosos/administración & dosificación , Tuberculosis Ocular/tratamiento farmacológico , Tuberculosis Ocular/diagnóstico , Adulto , Persona de Mediana Edad , Anciano , Adulto Joven , Resultado del Tratamiento , Adolescente , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/tratamiento farmacológico , Estudios de SeguimientoRESUMEN
Inflammatory changes in the retinal vessels can be attributed to a wide range of etiologies. These include infections, intraocular and systemic autoimmune processes, general diseases and iatrogenic factors. As the endothelium of the retinal capillaries forms the inner blood-retinal barrier, a disruption of this structure is directly associated with consequences for the fluid electrolyte balance of the retina. Clinical sequelae can include leakage of the retinal vessels and macular edema, which are often functionally threatening and significantly reduce the quality of life of patients. As the eye can be affected as an "index organ", a work-up of the patient by the ophthalmologist is of great importance. In the age of "precision medicine", efforts are being made to gain new insights into the pathogenetic mechanisms of vasculitis through "omics" in order to develop innovative treatment concepts.
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Vasculitis Retiniana , Humanos , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Vasculitis Retiniana/terapia , Diagnóstico DiferencialRESUMEN
This case report describes a patient with attenuation of retinal arterioles and veins associated with 2 blot hemorrhages and pallor of the inferotemporal retina without emboli.
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Inyecciones Intravítreas , Vasculitis Retiniana , Humanos , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/tratamiento farmacológico , Vasculitis Retiniana/inducido químicamente , Angiografía con Fluoresceína , Masculino , Femenino , Oclusión de la Arteria Retiniana/inducido químicamente , Oclusión de la Arteria Retiniana/diagnóstico , Oclusión de la Arteria Retiniana/tratamiento farmacológico , Persona de Mediana Edad , Anticuerpos Monoclonales Humanizados/efectos adversos , Anticuerpos Monoclonales Humanizados/uso terapéutico , Tomografía de Coherencia Óptica , AncianoRESUMEN
PURPOSE: To report a rare case of cytomegalovirus (CMV)-associated non-necrotizing viral retinopathy, occlusive retinal vasculitis, papillitis, and retinal neovascularization in a young 41-year-old woman. METHODS: Case report. RESULTS: The patient presented with features of papillitis, peripapillary cotton-wool spots, pre-retinal hemorrhages, and occlusive vasculitis. Her visual acuity was 20/100 in the left eye. She developed a worsening of the disease upon initiation of systemic corticosteroids. Her serum immunoglobulins (Ig) (both IgG and IgM) were highly positive for CMV. Anterior chamber paracentesis was positive for CMV DNA using real-time polymerase chain reaction. After stopping systemic corticosteroids, she was initiated on oral valganciclovir, with rapid resolution of the vasculitis and cotton-wool spots. After three months, the patient developed retinal neovascularization and underwent pan-retinal photocoagulation. However, her uveitis was inactive, and her visual acuity improved to 20/25. CONCLUSIONS: Non-necrotizing viral retinopathy has been associated with either varicella zoster virus (VZV) or herpes simplex virus (HSV). Our case highlights that CMV can also lead to non-necrotizing retinopathy and must be suspected in patients who may be negative for VZV and HSV. Appropriate anti-viral treatment can prevent severe vision loss in these patients.
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Antivirales , Citomegalovirus , ADN Viral , Infecciones Virales del Ojo , Angiografía con Fluoresceína , Neovascularización Retiniana , Vasculitis Retiniana , Agudeza Visual , Humanos , Femenino , Adulto , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/virología , Vasculitis Retiniana/tratamiento farmacológico , Neovascularización Retiniana/diagnóstico , Neovascularización Retiniana/tratamiento farmacológico , Neovascularización Retiniana/etiología , Neovascularización Retiniana/virología , Citomegalovirus/genética , Citomegalovirus/aislamiento & purificación , Infecciones Virales del Ojo/diagnóstico , Infecciones Virales del Ojo/virología , Infecciones Virales del Ojo/tratamiento farmacológico , Antivirales/uso terapéutico , ADN Viral/análisis , Retinitis por Citomegalovirus/diagnóstico , Retinitis por Citomegalovirus/tratamiento farmacológico , Tomografía de Coherencia Óptica , Valganciclovir/uso terapéutico , Fondo de OjoAsunto(s)
Antibacterianos , Hemorragia Retiniana , Vasculitis Retiniana , Vancomicina , Humanos , Vancomicina/efectos adversos , Vasculitis Retiniana/inducido químicamente , Vasculitis Retiniana/diagnóstico , Antibacterianos/efectos adversos , Hemorragia Retiniana/inducido químicamente , Hemorragia Retiniana/diagnóstico , Masculino , Femenino , Persona de Mediana Edad , Infecciones Bacterianas del Ojo/diagnóstico , Infecciones Bacterianas del Ojo/tratamiento farmacológico , Anciano , Angiografía con Fluoresceína/métodosRESUMEN
A 13-year-old Black male patient with a history of Kikuchi-Fujimoto disease (KFD) and sickle cell trait presented with acute painless vision loss and no light perception vision (NLP) in his left eye. The examination was indicative of occlusive retinal vasculitis with near total central retinal artery occlusion (CRAO). He was started on oral steroids with dramatic reperfusion and improvement of the retinal hemorrhages. However, his vision remained at NLP. Oral steroids were tapered, and rituximab infusion was initiated. While ocular involvement is uncommon in KFD, vision-limiting complications, such as occlusive retinal vasculitis, ophthalmic artery occlusion, and CRAO can occur. Early systemic immunosuppression is key in achieving rapid remission. [Ophthalmic Surg Lasers Imaging Retina 2024;55:235-239.].
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Angiografía con Fluoresceína , Linfadenitis Necrotizante Histiocítica , Vasculitis Retiniana , Rasgo Drepanocítico , Humanos , Masculino , Linfadenitis Necrotizante Histiocítica/diagnóstico , Linfadenitis Necrotizante Histiocítica/complicaciones , Linfadenitis Necrotizante Histiocítica/tratamiento farmacológico , Rasgo Drepanocítico/complicaciones , Rasgo Drepanocítico/diagnóstico , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Adolescente , Angiografía con Fluoresceína/métodos , Agudeza Visual , Oclusión de la Arteria Retiniana/diagnóstico , Oclusión de la Arteria Retiniana/etiología , Fondo de Ojo , Glucocorticoides/uso terapéutico , Glucocorticoides/administración & dosificaciónAsunto(s)
Fiebre Botonosa , Vasculitis Retiniana , Retinitis , Humanos , Vasculitis Retiniana/complicaciones , Vasculitis Retiniana/diagnóstico , Fiebre Botonosa/complicaciones , Fiebre Botonosa/diagnóstico , Tomografía de Coherencia Óptica/métodos , Retinitis/complicaciones , Retinitis/diagnóstico , Angiografía , Angiografía con Fluoresceína/métodos , Vasos Retinianos/diagnóstico por imagenRESUMEN
INTRODUCTION: Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome is a rare clinical entity affecting young healthy individuals. Treatment primarily involves pan retinal photocoagulation (PRP) to capillary non perfusion areas. Intravitreal anti-VEGF or steroids are given in the presence of macula edema. Oral steroids do not alter the course of the disease. Arterial occlusions have been reported in IRVAN. METHODS: Retrospective case review. RESULT: A twenty seven year old male presented to us with mild blurring of vision for one week. His BCVA was OU 20/20. Anterior segment examination was normal. Fundus examination showed bilateral disc aneurysm with OS arterial aneurysm along the inferior arcade. Fundhus fluorescein angiography and OCT angiography were confirmatory of the disc and retinal aneurysm. Capillary non perfusion (CNP) areas were noted in the periphery. Two days later he presented with paracentral scotoma in his left eye which was confirmed by Amsler chart. Fundus, OCT and OCTA were confirmatory of Paracentral Acute Middle Maculopathy (PAMM). The retinal aneurysm had increased in size from 333 micron diameter to 566 micron diameter. Panretinal photocoagulation to the CNP areas was done and intravitreal antiVEGF was given. At 6 months follow up, retinal aneurysm had disappeared. DISCUSSION: Our case describes a unique event with sudden increase in size of the aneurysm leading to acute blockage in the deep capillary plexus thus being the first report of PAMM in IRVAN. The patient was treated with PRP and intravitreal anti-VEGF for the enlarging aneurysm which reduced in size within a week.
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Aneurisma , Coriorretinitis , Degeneración Macular , Vasculitis Retiniana , Retinitis , Masculino , Humanos , Adulto , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/tratamiento farmacológico , Estudios Retrospectivos , Retinitis/diagnóstico , Angiografía con Fluoresceína , Aneurisma/complicaciones , Aneurisma/diagnóstico , Aneurisma/cirugía , Esteroides/uso terapéutico , Vasos RetinianosRESUMEN
BACKGROUND: Intraocular inflammation is common after anterior or posterior segment surgery. They typically manifest either as non-infectious inflammation of the anterior or posterior segment, known as toxic anterior or posterior segment syndrome (TPSS), or as sterile or infective endophthalmitis. In this report, we describe a rare case of TPSS following vitreoretinal surgery, presenting as hemorrhagic retinal vasculitis. CASE PRESENTATION: A 58-year-old male diagnosed with a left eye acute rhegmatogenous retinal detachment underwent an uneventful primary pars plana vitrectomy with silicone oil endotamponade on the same day of presentation. At presentation, there were no signs of intraocular inflammation, and his visual acuity in the affected eye was 20/200. RESULTS: The retina was well-attached with silicone oil in place on the first post-operative day. Along the inferior retinal periphery, a hemorrhagic occlusive vasculitis was observed. Clinical examination revealed retained intraocular cotton fiber along the inferotemporal quadrant over the retinal surface. In addition to the standard post-operative medications, a course of systemic steroids (40 mg per day of Prednisolone tablets) was started. At the end of the first post-operative week, clinical signs of hemorrhagic retinal vasculitis were beginning to resolve, and by the end of the fourth post-operative week, they had completely resolved. CONCLUSION: This report describes an unusual diagnosis of TPSS after vitreoretinal surgery, most likely due to the presence of an intraocular cotton fiber. This excessive inflammation of the posterior segment usually responds to a course of topical and systemic steroids.
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Desprendimiento de Retina , Vasculitis Retiniana , Cirugía Vitreorretiniana , Masculino , Humanos , Persona de Mediana Edad , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Vasculitis Retiniana/cirugía , Aceites de Silicona , Fibra de Algodón , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Vitrectomía/efectos adversos , Prednisolona , Inflamación , Estudios RetrospectivosRESUMEN
BACKGROUND: Eales' disease is an idiopathic peripheral retinal vasculopathy characterized by retinal phlebitis, ischemia, retinal neovascularization, and recurrent vitreous hemorrhages. But CRAO is an unusual presentation. CASE PRESENTATION: A 27-year-old healthy female nurse of Indian descent presented with sudden vision loss in her right eye upon awakening. Central retinal artery occlusion (CRAO), combined with mild central retinal vein occlusion (CRVO), was diagnosed. During the second of three consecutive sessions of hyperbaric oxygen treatments, her vision rapidly improved. One week later, she developed peripheral phlebitis in the same eye. Infectious, inflammatory, and hematologic etiologies were excluded. The systemic evaluation was normal except for a positive Mantoux tuberculin skin test. Following systemic steroidal treatment, she experienced gradual improvement of her vasculitis. Two weeks later, mild retinal phlebitis appeared in her left eye. Eales' disease was diagnosed after the exclusion of other diseases. CONCLUSION: This is an unusual Eales' disease case, which presented as combined CRAO with mild CRVO. The association of CRAO and Eales' disease is reported here for the first time, to our best knowledge.
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Flebitis , Oclusión de la Arteria Retiniana , Vasculitis Retiniana , Humanos , Femenino , Adulto , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Neovascularización Patológica , Flebitis/diagnóstico , Oclusión de la Arteria Retiniana/diagnóstico , Oclusión de la Arteria Retiniana/etiologíaRESUMEN
Purpose: To report the case of a 26-year-old male with bilateral Eales' disease that led to total blindness in the left eye and legal blindness in the right eye in a short time. Methods: A total clinical systemic examination, computed tomography, magnetic resonance imaging, genetic testing, and optical coherence tomography were performed in the reported case. Results: The eye condition was managed by scatter laser treatment, Anti-VEGF injections, anterior chamber paracentesis and trabeculectomy. Non-steroidal eye drops, as well as prostaglandin analogues, beta-blockers, and carbonic anhydrase inhibitors, have been used as local treatment. Systemic treatment included an intravenous methylprednisolone course, oral corticosteroids, azathioprine, mycophenolate mofetil and a total amount of 12 Anti-VEGF injections. Conclusion: Despite the aggressive treatment with oral steroids, immunosuppressants, and anti-VEGF injections, there were many exacerbations, and remission was not achieved. As a result, aggressive neovascular glaucoma developed, which led to total blindness in the left eye and legal blindness in the right eye. Abbreviations: HLA = human leukocyte antigens, Anti-VEGF = vascular endothelial growth factor inhibitors, BCVA = best corrected visual acuity, FA = fundus angiography, HBsAg = hepatitis B surface antigen, Anti-HCV = hepatitis C antibodies, TPHA = Treponema Pallidum hemagglutination assay, PCR = polymerase chain reaction, HSV = Herpes simplex virus, VZV = Varicella zoster virus, CMV = cytomegalovirus, IOP = intraocular pressure.
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Vasculitis Retiniana , Factor A de Crecimiento Endotelial Vascular , Masculino , Humanos , Adulto , Vasculitis Retiniana/diagnóstico , Neovascularización Patológica/diagnóstico , CegueraAsunto(s)
Endoftalmitis , Infecciones Bacterianas del Ojo , Vasculitis Retiniana , Humanos , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Vasculitis Retiniana/tratamiento farmacológico , Endoftalmitis/diagnóstico , Endoftalmitis/etiología , Endoftalmitis/tratamiento farmacológico , Antibacterianos/uso terapéutico , Infecciones Bacterianas del Ojo/diagnóstico , Inyecciones IntravítreasRESUMEN
PURPOSE: To present a case of frosted branch angiitis associated with an exacerbation of mixed connective tissue disease (MCTD). METHODS: Single case report. RESULTS: A 31-year-old woman presented with a flare of her long-standing MCTD after a change in her immunosuppressive medications. She developed blurred vision and floaters first in the left eye but eventually in both eyes. Fundoscopy showed patchy perivascular sheathing of tertiary branch venules surrounded by retinal hemorrhages characterized as frosted branch angiitis. The patient's MCTD symptoms and retinal vasculitis improved with continued immunosuppressive therapy. At 1-month follow-up, her visual acuity had improved to 20/20 bilaterally with complete resolution on fundoscopy. CONCLUSION: To the authors' knowledge, this is the first report of frosted branch angiitis seen in association with MCTD. The improvement in the patient's visual acuity and fundoscopic findings in this case supports the role of immunosuppressive therapy to treat secondary frosted branch angiitis associated with an autoimmune condition such as MCTD. However, it is recommended that a comprehensive medical workup is performed to exclude an infective cause, particularly in immunocompromised patients.
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Enfermedad Mixta del Tejido Conjuntivo , Vasculitis Retiniana , Femenino , Humanos , Adulto , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Angiografía con Fluoresceína , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Vasculitis Retiniana/tratamiento farmacológicoRESUMEN
INTRODUCCIÓN: El tratamiento de la tuberculosis (TB) ocular es un tema que genera controversia en el mundo. Para el correcto manejo de estos pacientes, es necesario el desarrollo de guías que consideren la epidemiología de la TB ocular en cada nación. El objetivo de este consenso fue discutir de forma interdisciplinaria la epidemiología, fisiopatología, clínica, diagnóstico, estudio y tratamiento de los pacientes con TB ocular, para establecer un algoritmo de tratamiento y proponer qué pacientes deben ser tratados en Chile y con qué tratamiento. Además, se establecieron acuerdos para efectuar quimioprofilaxis de los pacientes con TB latente que tienen indicación de tratamiento inmunosupresor por enfermedades inflamatorias oculares.
The treatment of ocular tuberculosis (TB) remains controversial worldwide. The development of guidelines for ocular TB can facilitate the approach and management of these patients. These guidelines should be developed regionally, considering the local TB epidemiology. The objectives of this consensus are: to initiate an interdisciplinary discussion about the epidemiology, pathophysiology, clinical presentation, diagnosis, workup and treatment of patients with ocular TB, to establish a treatment algorithm and define which patients should be treated in Chile and how and, to analyze and discuss the published data regarding chemoprophylaxis for patients with latent TB who need to start immunosuppressive treatment due to inflammatory ocular conditions.
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Humanos , Tuberculosis Ocular/diagnóstico , Tuberculosis Ocular/terapia , Tuberculosis Ocular/epidemiología , Fenotipo , Uveítis/diagnóstico , Chile/epidemiología , Escleritis/diagnóstico , Tuberculosis Ocular/fisiopatología , Factores de Riesgo , Quimioprevención , Vasculitis Retiniana/diagnóstico , Consenso , Diagnóstico DiferencialRESUMEN
An 8-year-old girl presented with a subretinal abscess after strabismus surgery. This was treated successfully with medial rectus suture removal, pars plana vitrectomy, intravitreal antibiotics, and intravenous antibiotics. Recovery was complicated by acute post-infectious retinal vasculitis after tapering high-dose corticosteroids, requiring an extended corticosteroid regimen over 2 months until resolution. [J Pediatr Ophthalmol Strabismus. 2023;60(3):e26-e30.].