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1.
Klin Monbl Augenheilkd ; 241(1): 84-87, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36781159

RESUMEN

This is a unique case of retinoschisis as an ocular manifestation of brucellosis. A 38-year-old male presented with recurrent episodes of bilateral eye redness, predominately in his left eye. His visual acuity was not affected, and he did not report any other symptoms. On slit lamp examination, binocular Koeppe nodules of the iris and cells in the left anterior chamber were observed. Fundoscopy followed by meticulous multimodal imaging confirmed left inferior retinoschisis. The patient was diagnosed with panuveitis, and a series of laboratory examinations revealed positive anti-IgM Brucella antibodies. Ocular brucellosis can cause variable, atypical, and serious presentations, hence, early diagnosis is paramount to avoid complications.


Asunto(s)
Brucella , Brucelosis , Panuveítis , Retinosquisis , Uveítis , Humanos , Masculino , Adulto , Uveítis/diagnóstico , Uveítis/complicaciones , Brucelosis/complicaciones , Brucelosis/diagnóstico , Brucelosis/tratamiento farmacológico
2.
Int Ophthalmol ; 44(1): 291, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38940960

RESUMEN

PURPOSE: This review aims to summarize the current knowledge concerning the clinical features, diagnostic work-up, and therapeutic approach of uveitic epiretinal membranes (ERM). METHODS: A thorough investigation of the literature was conducted using the PubMed database. Additionally, a complementary search was carried out on Google Scholar to ensure the inclusion of all relevant items in the collection. RESULTS: ERM is an abnormal layer at the vitreoretinal interface, resulting from myofibroblastic cell proliferation along the inner surface of the central retina, causing visual impairment. Known by various names, ERM has diverse causes, including idiopathic or secondary factors, with ophthalmic imaging techniques like OCT improving detection. In uveitis, ERM occurrence is common, and surgical intervention involves pars plana vitrectomy with ERM peeling, although debates persist on optimal approaches. CONCLUSIONS: Histopathological studies and OCT advancements improved ERM understanding, revealing a diverse group of diseases without a unified model. Consensus supports surgery for uveitic ERM in progressive cases, but variability requires careful consideration and effective inflammation management. OCT biomarkers, deep learning, and surgical advances may enhance outcomes, and medical interventions and robotics show promise for early ERM intervention.


Asunto(s)
Membrana Epirretinal , Tomografía de Coherencia Óptica , Uveítis , Vitrectomía , Humanos , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/cirugía , Membrana Epirretinal/etiología , Uveítis/diagnóstico , Uveítis/complicaciones , Vitrectomía/métodos , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Manejo de la Enfermedad
3.
Int Ophthalmol ; 44(1): 149, 2024 Mar 19.
Artículo en Inglés | MEDLINE | ID: mdl-38502258

RESUMEN

PURPOSE: This review aims to summarize the current knowledge concerning the clinical features, diagnostic work-up, and therapeutic approach of bilateral diffuse uveal melanocytic proliferation (BDUMP). METHODS: A meticulous literature search was performed in the PubMed database. A supplementary search was made in Google Scholar to complete the collected items. Our search strategy utilized the following keywords: "bilateral diffuse uveal melanocytic proliferation", "BDUMP", and "Paraneoplastic Syndrome". Articles were considered based on their relevance, with the search spanning publications up to 2023. Studies were excluded if they did not contribute pertinent information or lacked methodological rigor. A critical appraisal of included studies was conducted, assessing study design, sample size, methodology, and potential bias, ensuring a thorough and transparent review process. RESULTS: BDUMP is a rare and potentially sight-threatening condition characterized by the bilateral proliferation of melanocytes within the uvea. BDUMP is typically observed in middle-aged or elderly individuals and is often associated with an underlying malignancy, most commonly of gastrointestinal origin. BDUMP is frequently misdiagnosed as a benign nevus or choroidal metastasis, leading to delayed diagnosis and treatment. The ophthalmic symptoms and signs typically precede the diagnosis of a systemic malignancy, emphasizing the crucial role of ophthalmologists in the recognition of BDUMP. Several diagnostic modalities can aid in the diagnosis of BDUMP, including ophthalmic examination, imaging studies such as optical coherence tomography, fluorescein angiography, and indocyanine green angiography, and biopsy of the uveal tissue. Treatment of BDUMP is directed towards the underlying malignancy and may include chemotherapy, radiotherapy, or surgical resection. Additionally, strict monitoring with regular follow-ups may contribute to the detection of new lesions and the reduction in the size of existing ones. CONCLUSIONS: BDUMP can be considered a potential biomarker in the management of malignancies, especially when the primary underlying tumor has not been detected. Further research is needed to better understand the pathogenesis of BDUMP and its association with malignancy.


Asunto(s)
Neoplasias de la Retina , Úvea , Persona de Mediana Edad , Anciano , Humanos , Úvea/patología , Melanocitos/patología , Neoplasias de la Retina/patología , Coroides , Proliferación Celular
4.
Klin Monbl Augenheilkd ; 240(3): 305-315, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36436509

RESUMEN

Neovascular glaucoma (NVG) is a severe type of secondary glaucoma with devastating complications and generally poor visual prognosis. NVG is defined by the development of pathological neovessels over the iris and the iridocorneal angle that can block the outflow of aqueous humor, causing elevation of intraocular pressure (IOP). The pathogenesis of NVG is, in most cases, associated with ischemia of the posterior segment, which is most frequently associated with proliferative diabetic retinopathy or central retinal vein occlusion. The advanced stages of NVG are by iris and angle neovascularization, angle, and extremely high IOP, accompanied by ocular pain and poor vision. The therapeutic approach of NVG is based on the reduction of retinal ischemia by panretinal photocoagulation. Intravitreal anti-VEGF administration can contribute to the regression of neovascularization, and topical and systemic medications may be necessary for IOP control. However, if medical treatment with these agents is not enough, surgical procedures may be required to lower IOP and prevent glaucomatous optic neuropathy. Early and prompt diagnosis, with identification of the underlying etiology, can improve IOP control and final visual outcome. The aim of this study is to review current knowledge of the pathogenesis and management of NVG.


Asunto(s)
Glaucoma Neovascular , Glaucoma , Enfermedades de la Retina , Oclusión de la Vena Retiniana , Humanos , Glaucoma Neovascular/diagnóstico , Glaucoma Neovascular/etiología , Glaucoma Neovascular/terapia , Oclusión de la Vena Retiniana/complicaciones , Oclusión de la Vena Retiniana/diagnóstico , Oclusión de la Vena Retiniana/terapia , Presión Intraocular , Glaucoma/complicaciones , Isquemia/complicaciones
5.
Artículo en Inglés | MEDLINE | ID: mdl-38134911

RESUMEN

Uveitis is a significant cause of ocular morbidity and accounts for approximately 5 - 10% of visual impairments worldwide, particularly among the working-age population. Infections are the cause of ~ 50% cases of uveitis, but it has been suggested that infection might also be implicated in the pathogenesis of immune-mediated "non-infectious" uveitis. There is growing evidence that cytokines (i.e., interleukins, interferons, etc.) are key mediators of immune-mediated "non-infectious" uveitis. For example, activation of the interleukin-23/interleukin-17 signalling pathway is involved in immune-mediated "non-infectious" uveitis. Studies in animal models have been important in investigating the role of cytokines in uveitis. Recent studies of clinical samples from patients with uveitis have allowed the measurement of a considerable array of cytokines even from very small sample volumes (e.g., aqueous and vitreous humour). The identification of complex patterns of cytokines may contribute to a better understanding of their potential pathogenetic role in uveitis as well as to an improved diagnostic and therapeutic approach to treat these potentially blinding pathologies. This review provides further insights into the putative pathobiological role of cytokines in immune-mediated "non-infectious" uveitis.

6.
Artículo en Inglés | MEDLINE | ID: mdl-37336237

RESUMEN

Central serous chorioretinopathy (CSCR) is a relatively common retinal disorder that leads to central vision impairment, often with a high recurrence rate. The exact etiology and pathogenetic mechanisms have not been fully elucidated but are likely to be associated with hyperpermeability of the choroidal capillaries and failure of the retinal pigment epithelium (RPE), leading to serous detachment of the neurosensory retina. Multimodal imaging plays a critical role in the diagnostic approach and monitoring of CSCR. Fortunately, the natural course of the disease is usually self-limiting, with spontaneous resolution and total fluid reabsorption. However, some patients may exhibit recurrences or persistent subretinal fluid (chronic CSCR), leading to progressive and irreversible RPE atrophy or photoreceptor damage. Thus, to prevent permanent visual loss, individualized treatment should be considered. Recent developments in the diagnostic and therapeutic approach have contributed to better outcomes in patients with CSCR. More studies are required to improve our understanding of epidemiology, pathogenesis, diagnosis, and treatment, with a significant impact on the management of this challenging clinical entity. The purpose of this review is to summarize the current knowledge about the clinical features, diagnostic workup, and therapeutic approach of CSCR.

7.
Int Ophthalmol ; 43(10): 3633-3650, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37428299

RESUMEN

PURPOSE: To analyse the demography, etiology, and classification of uveitis at a tertiary academic referral center. METHODS: An observational study was conducted on the archives of uveitic patients at the Ocular Inflammation Service of the Department of Ophthalmology at the University Hospital of Ioannina (Greece) from 1991 to 2020. This study aimed to investigate the epidemiological profile of patients, including their demographics and the main etiologic factors of uveitis. RESULTS: Out of 6191 cases with uveitis, 1925 were infectious, 4125 were non-infectious, and an overall of 141 masquerade syndromes were recorded. Among these cases, 5950 patients were adults, with a slight female predominance, while 241 were children (< 18 years old). Interestingly, 24.2% of cases (1500 patients) were associated with 4 specific microorganisms. Herpetic uveitis (HSV-1 and VZV/HZV) was the most common cause of infectious uveitis (14.87%), followed by toxoplasmosis (6.6%) and tuberculosis (2.74%). In 49.2% of non-infectious uveitis cases, no systematic correlation was found. The most frequent causes of non-infectious uveitis included sarcoidosis, white dot syndromes, ankylosing spondylitis, lens-induced uveitis, Adamantiades-Behçet disease, and idiopathic juvenile arthritis. Infectious uveitis was more common in the rural population, whereas non-infectious uveitis was more frequently recorded in the urban population CONCLUSIONS: Although our study was conducted on a predominantly white Caucasian population, it also reflects the effect of increasing immigration, improvements of diagnostic techniques, changes in referral patterns, and various actual changes in disease incidence.


Asunto(s)
Síndrome de Behçet , Uveítis , Adulto , Niño , Humanos , Femenino , Adolescente , Masculino , Uveítis/diagnóstico , Uveítis/epidemiología , Uveítis/etiología , Síndrome de Behçet/complicaciones , Síndrome de Behçet/epidemiología , Centros de Atención Terciaria , Morbilidad , Derivación y Consulta , Estudios Retrospectivos
8.
Ophthalmologica ; 245(3): 239-248, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34818241

RESUMEN

PURPOSE: During bank holidays and weekends (BHWE), many primary macula-on retinal detachments (RD) across the United Kingdom are performed unsupervised out-of-hours by experienced vitreoretinal (VR) fellows. We aimed to determine whether first-year (F1) and second-year (F2) fellows could safely operate out-of-hours independently with remote supervision on primary macula-on RDs. METHODS: This is a retrospective consecutive series of 435 patients attending the Birmingham and Midlands Eye Centre from January 2017 to July 2020. We evaluated (i) 6-month re-detachment rate and (ii) visual outcomes of F1, F2, and consultants during office hours and BHWE as well as the effects of supervision versus non-supervision. RESULTS: For the re-detachment rate, no difference was found between surgeon grade (p = 0.821), whether supervised (p = 1.000), whether BHWE (p = 1.000), unsupervised BHWE and supervised mid-week (p = 0.757), and unsupervised F1 and F2 (p = 1.000), with non-significance maintained on multivariate regression. No difference was detected in the level of supervision (15.7%) between fellow grades during BHWE (p = 0.761) or mid-week (p = 0.295) or between surgeon grade and logMAR letters gained pre-postoperatively (p = 0.834). CONCLUSION: Safe VR services can be provided by experienced VR fellows during office hours, BHWE, supervised, or unsupervised, with similar primary success and visual outcomes to consultants in this patient subgroup. Initial intensive supervision and feedback and a gradual increase in independence is fundamental for VR fellows to gain confidence and become safe independent surgeons.


Asunto(s)
Atención Posterior , Mácula Lútea , Desprendimiento de Retina , Cirugía Vitreorretiniana , Humanos , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/cirugía , Estudios Retrospectivos , Agudeza Visual , Vitrectomía
9.
Orbit ; : 1-3, 2022 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-35730243

RESUMEN

This study aims to report an acute dacryocystitis associated with Raoultella planticola infection. The patient's medical records and laboratory were thoroughly assessed. A thorough literature search was performed in PubMed database. An additional search was made in Google Scholar to complete the collected items. This is the first recorded case of acute dacryocystitis attributed to Raoultella planticola infection. A limited number of studies has related this pathogen with conjunctivitis. Acute dacryocystitis on rare occasions can also be caused by atypical organisms. Swabs must be obtained and patients must be started on empirical treatment while waiting for the laboratory results.

10.
Int Ophthalmol ; 42(1): 295-321, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34370174

RESUMEN

PURPOSE: This review aims to summarize the current knowledge concerning the clinical features, diagnostic work-up and therapeutic approach of ocular toxoplasmosis focusing mainly on the postnatally acquired form of the disease. METHODS: A meticulous literature search was performed in the PubMed database. A supplementary search was made in Google Scholar to complete the collected items. RESULTS: Ocular toxoplasmosis is one of the most frequent infectious etiologies of posterior uveitis. It typically presents with retinochoroiditis. Setting an accurate diagnosis depends to a considerable degree on detecting characteristic clinical characteristics. In addition to the evaluation of clinical features, the diagnosis of toxoplasmosis relies at a large degree on serologic testing. The detection of the parasite DNA in the aqueous or vitreous humor can provide evidence for a definitive diagnosis. The current mainstay for the treatment, if necessary, is the use of oral antibiotic with systemic corticosteroids. Recent evidence suggests other therapeutic approaches, such as intravitreal antibiotics can be used. CONCLUSION: Recent developments in the diagnostic and therapeutic approach have contributed to preventing or limiting vision loss of patients suffering from ocular toxoplasmosis. Further studies are required to provide a better understanding of epidemiology, pathogenesis, diagnosis, and treatment with a significant impact on the management of this challenging clinical entity.


Asunto(s)
Coriorretinitis , Toxoplasma , Toxoplasmosis Ocular , Uveítis Posterior , Coriorretinitis/diagnóstico , Coriorretinitis/tratamiento farmacológico , Ojo , Humanos , Toxoplasmosis Ocular/diagnóstico , Toxoplasmosis Ocular/tratamiento farmacológico , Toxoplasmosis Ocular/epidemiología
11.
Postgrad Med J ; 97(1146): 256-263, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32788313

RESUMEN

Neuro-ophthalmological emergency disorders typically present with symptoms of visual loss, diplopia, ocular motility impairment or anisocoria. The ocular manifestations of these disorders are sometimes indicative of a more serious global neurology disease rather than an isolated ocular disease. The aim of this review is to highlight four important neuro-ophthalmological emergency disorders that must not be missed by an ophthalmologist. These include acute painful Horner's syndrome, painful cranial nerve III palsy, giant cell arteritis and transient ischaemic attack with amaurosis fugax. The delayed diagnosis of these clinical entities puts the patient at risk of blindness or death. Therefore, prompt diagnosis and management of these conditions are essential. This can be acquired from understanding the main signs and symptoms of the disease presentation together with a high index of suspicion while working at a busy eye emergency department.


Asunto(s)
Ceguera/etiología , Servicio de Urgencia en Hospital , Arteritis de Células Gigantes/complicaciones , Arteritis de Células Gigantes/diagnóstico , Síndrome de Horner/complicaciones , Síndrome de Horner/diagnóstico , Humanos , Ataque Isquémico Transitorio/complicaciones , Ataque Isquémico Transitorio/diagnóstico , Enfermedades del Nervio Oculomotor/complicaciones , Enfermedades del Nervio Oculomotor/diagnóstico
12.
Int Ophthalmol ; 41(12): 4111-4126, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34297303

RESUMEN

PURPOSE: Analysis of cases with spirochetal uveitis related to spirochetes in a tertiary referral academic center. METHODS: Retrospective study of patients diagnosed with uveitis attributed to Treponema pallidum, Leptospira spp. and Borrelia burgdorferi from June 1991 until December 2019. RESULTS: A total of 57 cases of spirochetal uveitis (22 patients with T. pallidum, 26 with Leptospira spp., and 9 with B. burgdorferi) that consisted 1% of the overall number of uveitics were recorded. All these cases presented with a wide spectrum of clinical presentations (anterior uveitis, posterior uveitis, panuveitis, vasculitis, papillitis, and in some rare cases concomitant posterior scleritis). The treatment included mainly penicillin or doxycycline, while corticosteroids were administered systematically in some cases with Borrelia or Leptospira infection. The final visual outcome was favorable (> 6/10 in Snellen visual acuity) in approximately 76% of our patients. CONCLUSION: Despite being rare, spirochetal uveitis can be detrimental for the vision and must always be included in the differential diagnosis.


Asunto(s)
Escleritis , Sífilis , Uveítis , Humanos , Estudios Retrospectivos , Spirochaetales , Uveítis/diagnóstico , Uveítis/tratamiento farmacológico , Uveítis/epidemiología
13.
Int Ophthalmol ; 40(6): 1603-1618, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32107692

RESUMEN

PURPOSE: To review the role of antigen-presenting cells (APC) in the pathogenesis of ocular surface diseases (OSD). METHODS: A thorough literature search was performed in PubMed database. An additional search was made in Google Scholar to complete the collected items. RESULTS: APCs have the ability to initiate and direct immune responses and are found in most lymphoid and non-lymphoid tissues. APCs continuously sample their environment, present antigens to T cells and co-ordinate immune tolerance and responses. Many different types of APCs have been described and there is growing evidence that these cells are involved in the pathogenesis of OSD. OSD is a complex term for a myriad of disorders that are often characterized by ocular surface inflammation, tear film instability and impairment of vision. CONCLUSIONS: This review summarizes the current knowledge concerning the immunotopographical distribution of APCs in the normal ocular surface. APCs appear to play a critical role in the pathology of a number of conditions associated with OSD including infectious keratitis, ocular allergy, dry eye disease and pterygium.


Asunto(s)
Células Presentadoras de Antígenos/inmunología , Síndromes de Ojo Seco/inmunología , Inmunidad Celular , Lágrimas/metabolismo , Células Presentadoras de Antígenos/patología , Síndromes de Ojo Seco/metabolismo , Síndromes de Ojo Seco/patología , Humanos
14.
J Obstet Gynaecol ; 39(8): 1037-1048, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31190583

RESUMEN

Pregnancy is a normal state of physiological stress that induces significant changes in the human body, some of which can potentially affect the visual system. The pregnant state may exacerbate pre-existing ocular disorders (i.e. diabetic retinopathy or central serous retinopathy). Moreover, other systemic conditions related to pregnancy can induce ophthalmic disorders affecting the retina and the choroid, some of which are of acute nature. Increasing awareness and improving collaboration between ophthalmologists, obstetricians and internists can play a pivotal role in the management of complex conditions during pregnancy. Special attention should be given while prescribing medications or deciding about other diagnostic or therapeutic techniques. The purpose of this review is to summarise the physiologic and pathologic effects of pregnancy in the eyes, highlighting the most acute clinical entities that may be threatening for the vision or even the life of the mother and her baby.


Asunto(s)
Oftalmopatías/complicaciones , Oftalmopatías/fisiopatología , Complicaciones del Embarazo/fisiopatología , Córnea , Femenino , Feto/efectos de los fármacos , Glaucoma/complicaciones , Humanos , Presión Intraocular , Embarazo , Enfermedades de la Retina/complicaciones , Enfermedades de la Retina/fisiopatología , Enfermedades de la Retina/cirugía , Uveítis/complicaciones , Campos Visuales
15.
Int Ophthalmol ; 39(11): 2505-2515, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30852734

RESUMEN

PURPOSE: To evaluate the clinical manifestations of intraocular inflammation associated with Bartonella infection and describe the assessment and management of patients with cat-scratch disease (CSD). METHODS: This is a retrospective review of the clinical records of patients diagnosed with Bartonella henselae and Bartonella quintana intraocular inflammation from 2011 to 2018 in the Department of Ocular Inflammations and Infections of the University Eye Clinic of Ioannina (Greece). An analysis of the current literature concerning Bartonella-related intraocular infections was also carried out. RESULTS: This is a retrospective study of 13 patients (7 males and 6 females) with a mean age of 39.2 years that were diagnosed with unilateral intraocular inflammation, except one case with bilateral affection, attributed to Bartonella (either henselae or quintana). Twelve (12) patients (92.3%) had a positive history of traumatic cat contact. The main ocular clinical findings with regard to the type of uveitis included neuroretinitis in 5 eyes (38.5%), vasculitis in 3 eyes (23.1%), iridocyclitis in 2 eyes (15.4%), intermediate uveitis in 2 eyes (15.4%), posterior uveitis in 1 eye (7.7%), panuveitis in 2 eyes (15.4%), retinochoroiditis in 2 eyes (15.4%), vitritis in 1 eye (7.7%), peripheral choroidal granuloma in 1 eye (7.7%). Immunoglobulin (Ig) G was positive in all cases. All patients were treated with antibiotics (mainly rifampicin, doxycycline and azithromycin). The visual acuity was noted to be improved in all patients after treatment, but some of them experienced disturbing complications. CONCLUSION: CSD may manifest with various ocular pathological findings. Taking into consideration the increasing frequency of infections by B. henselae and B. quintana, clinicians should always incorporate CSD in the differential diagnosis of such presentations of uveitis. Educating vulnerable groups (children, immunosuppressed, etc.) and also general population, the appropriate preventing measures can contribute in limiting the risk of infection.


Asunto(s)
Bartonella henselae/aislamiento & purificación , Bartonella quintana/aislamiento & purificación , Enfermedad por Rasguño de Gato/diagnóstico , Infecciones Bacterianas del Ojo/diagnóstico , Fiebre de las Trincheras/diagnóstico , Uveítis/diagnóstico , Adolescente , Adulto , Anciano , Enfermedad por Rasguño de Gato/microbiología , Niño , Coroides/patología , Diagnóstico Diferencial , Infecciones Bacterianas del Ojo/microbiología , Femenino , Angiografía con Fluoresceína , Estudios de Seguimiento , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Disco Óptico/patología , Retina/patología , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Factores de Tiempo , Tomografía de Coherencia Óptica , Fiebre de las Trincheras/microbiología , Uveítis/microbiología , Adulto Joven
18.
Artículo en Inglés | MEDLINE | ID: mdl-38478907

RESUMEN

Central retinal artery occlusion (CRAO) is a vascular ophthalmic emergency. Often caused by a sudden interruption of blood flow to the eye, with profound and painless vision loss, resulting in irreversible cell damage. An impacted embolus at the narrowest part of the central retinal artery is the most common cause. Cardioversion is a medical procedure used to restore a normal heart rhythm in individuals with atrial fibrillation (AF). In some cases, cardioversion can lead to thromboembolic complications. If an embolus reaches the central retinal artery, it can block the blood flow to the retina, resulting in CRAO and subsequent vision loss.

19.
Artículo en Inglés | MEDLINE | ID: mdl-38166212

RESUMEN

PURPOSE: To present a case of a young female patient with asymptomatic retinal dysfunction associated with alpha-methylacyl-CoA (AMACR) racemase deficiency. METHODS: Retrospective analysis of the medical notes of a single patient. Detailed slit-lamp examination was completed by Optos colour fundus photography and enhanced depth imaging optical coherence tomography (EDI-OCT). Genetic testing was conducted to establish the diagnosis, and the patient was also referred to the Department of Neurology for further assessment. RESULTS: Dilated fundoscopy and ophthalmic imaging revealed bilateral retinal pigment epithelium abnormalities that could be associated with a genetic retinal disorder. Indeed, genetic testing showed that this lady was homozygous for AMACR (OMIM 604489; Gene ID 23600) variant NM 014324.6: c.154T>C; p.(Ser52Pro). She had no detectable neurological deficit. CONCLUSION: AMACR deficiency is a rare genetic condition that can potentially contribute to retinal dystrophy through various mechanisms. Additionally, it may lead to a wide spectrum of systemic signs and symptoms. Interestingly, in contrast to other reported studies, our patient was completely asymptomatic, with no evidence of systemic disorders.

20.
Eye (Lond) ; 38(10): 1816-1826, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38519714

RESUMEN

Acute retinal necrosis (ARN) is a rare but severe ophthalmic pathology defined by panuveitis, retinal necrosis, and high rates of retinal detachment. ARN may lead to poor visual outcomes even if promptly diagnosed and treated. ARN may present with a wide spectrum of clinical findings compatible with panuveitis including anterior uveitis, scleritis, vitritis, necrotizing retinitis, occlusive vasculitis, and optic disc edema. The American Uveitis Society introduced clinical criteria in 1994 for the diagnosis of ARN, while more recent criteria have been proposed by the Standardization of Uveitis Nomenclature (SUN) Working Group and the Japanese ARN Study Group. Multimodal imaging is a valuable tool in evaluating patients with ARN, particularly in unusual cases, while utilizing retinal imaging and applying AI algorithms in these areas of clinical research could be highly beneficial. Over the last few years, significant progress has been made in achieving timely diagnosis and treatment. The precise identification of the viral cause in suspected ARN cases has been greatly enhanced by the advancements in PCR techniques and flow cytometry used for intraocular fluids. systemic (intravenous or oral) antivirals with adjunctive intravitreal antiviral therapy are recommended as first-line therapy to reduce disease severity, the risk of vision loss, and retinal detachment incidence. Although aciclovir was the first existing antiviral agent, at present many clinicians prefer high-dose valaciclovir orally or intravenous aciclovir combined with intravitreal foscarnet. Despite significant progress in diagnosing and treating ARN, further research is needed to improve visual outcomes in this challenging clinical condition.


Asunto(s)
Antivirales , Infecciones Virales del Ojo , Síndrome de Necrosis Retiniana Aguda , Humanos , Síndrome de Necrosis Retiniana Aguda/diagnóstico , Síndrome de Necrosis Retiniana Aguda/tratamiento farmacológico , Síndrome de Necrosis Retiniana Aguda/virología , Antivirales/uso terapéutico , Infecciones Virales del Ojo/diagnóstico , Infecciones Virales del Ojo/tratamiento farmacológico , Infecciones Virales del Ojo/virología
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