Masquerade Syndrome Research Articles

Pediatric uveitis

ABSTRACT Up to 10% of uveitis cases occur in children, with notable implications due to the risk of chronicity and vision loss. It can result from infections, autoimmune and autoinflammatory diseases, trauma, or masquerade syndromes. Primary care providers are vital in early detection, symptom management, and timely specialist referral. Depending on the etiology, symptoms may include redness, pain, photophobia, vision changes, and sometimes more severe vision loss or intense pain. Conservative initial treatment may include pain relievers and corticosteroid eye drops. Specialist care involves a thorough ocular examination and diagnostic tests to identify the underlying cause. Treatment aims to control inflammation and preserve vision, often necessitating long-term medication, with compliance being crucial. In low-resource settings, telemedicine and generic drugs may be useful to manage costs. Preventative strategies focus on prenatal care to avoid congenital infections, and distinguishing uveitis from conditions like conjunctivitis is essential for proper treatment. Multidisciplinary care ensures comprehensive management of the child’s health. In summary, early intervention and a collaborative approach among healthcare providers are key to mitigating the impact of uveitis on a child’s life.

Rare helminthic variants in ophthalmologic practice in the Far East

In this work, we carry out a literature review into the current knowledge of the rarest ophthalmic helminthoses, including approaches to their timely diagnosis and effective therapy. In terms of their rarity, ocular forms of helminthoses should be classified into relatively frequent forms, such as toxocarosis, and rarer forms, such as those with the infestation of the visual organ and the development of paragonimiasis and dirofilariosis. The epidemiology of ocular onchocerciasis in the Far East of the Russian Federation is not only exclusively imported, but also has an orphan prevalence. The lack of adequate biomicroscopic visualization of the causative agent of dirofilariasis is the main limiting factor in the management of these patients, which affects both diagnosis and treatment. The masquerade syndrome in the clinical course of paragonimiasis is a factor that prioritizes anamnestic findings, which are most often confined to the consumption of an additional host, most often improperly processed crayfish. Ophthalmologic and cerebral forms require radiologic imaging with detection of characteristic MRI patterns. At the current stage of medicine development, drug therapy is sufficient to resolve the pathologic process in ocular paragonimiasis. Ophthalmologists should carry out a more comprehensive assessment of the somatic status of each patient resistant to primary, often empirical, therapy in order to exclude parasitological causes.

A case of masquerade syndrome caused by metastatic iris tumor diagnosed by a high CEA level in the aqueous humor and iris biopsy

BackgroundWith the advent of targeted therapies, the survival prognosis for metastatic tumors has extended, and it has become necessary to diagnose and consider treatment that takes into account Quality of Life for metastatic tumors of the eye. The reports of checking tumor marker in the aqueous humor for diagnosis of metastatic intraocular tumors are few. Here, we report a case of masquerade syndrome with secondary glaucoma in which a high carcinoembryonic antigen (CEA) level in the aqueous humor could assist diagnosis, and continuing targeted therapy and trabeculectomy were effective.Case presentationA 73-year-old man was referred to us for iritis and high intraocular pressure (IOP) with severe eye pain in the left eye. He had Stage IVB lung adenocarcinoma treated with a molecularly targeted drug, Osimertinib. His best corrected visual acuity was 0.15, and IOP was 52 mmHg in the left eye. Anterior chamber cells (+), numerous small nodules in the iris, and small masses in the inferior angle were observed. In the aqueous humor, the CEA level was higher than in the blood. Napsin A and Thyroid Transcription Factor-1 (TTF-1) positive cells showed in the resected tissue at iridectomy performed during trabeculectomy. The pathological diagnosis of metastatic iris tumor of the lung adenocarcinoma was made, and we injected bevacizumab intravitreally once and continued Osimertinib. His IOP lowered to 8–10 mmHg, and the iris masses disappeared. He lost vision by metastasis to the left optic nerve after termination of Osimertinib one and a half years later. The metastasis shrank after restarting the drug. He passed away from an exacerbation of his primary lung cancer two years and nine months after the first visit. Although he lost vision in his left eye, the metastatic tumor in his left eye and optic nerve had disappeared, and his quality of life was maintained without any pain in his eye.ConclusionsChecking tumor markers in the aqueous humor can aid in diagnosis, and aggressive treatment of metastatic iris tumors must help maintain patients’ Quality of Life.

Цитологические исследования при диагностике увеита. Клинический пример

Purpose. To demonstrate on a clinical example the use of laboratory cytological methods for the differential diagnosis of masquerade syndrome and uveitis. Methods. A clinical example of а 77-year-old patient is presented. She was diagnosed with uveitis and received courses of anti-inflammatory therapy for 6 years without positive dynamics. Further, an assumption was made about the tumor cause of inflammation (primary bilateral intraocular lymphoma), a diagnostic vitrectomy with vitreous sampling for cytological examination was performed. Cytological examination confirmed the diagnosis of lymphoma. Results A patient with uveitis was suspected to have masquerade syndrome. A cytological examination of the vitreous body was performed; as a result, the diagnosis of intraocular lymphoma was unequivocally confirmed. The patient’s examination plan and further treatment were radically revised. Key words: intraocular lymphoma; uveitis; cytological examination.

Uveitis and Scleritis as a Risk Factor for Mortality

ABSTRACT Purpose Uveitis and scleritis may be caused by local or systemic infection, or associated with noninfectious systemic inflammatory autoimmune disease. This study explored the all-cause mortality following an individual’s first presentation with uveitis/scleritis. Methods A cross-sectional study was conducted on all uveitis/scleritis patients diagnosed by uveitis specialists and treated in a single tertiary referral center in New Zealand between 2006 and 2020(15y). Masquerade syndromes including intraocular lymphoma were excluded. Outcome measures: demographics, etiology of uveitis/scleritis, anatomical location and all-cause mortality. Results 2723 subjects were identified. Median age of onset of uveitis/scleritis was 44.9 years (Range:1.5–99.5 years). 49.6% were female. Median follow-up from diagnosis of uveitis/scleritis was 8.0 years (IQR 4.1–11.6 years) with a total follow-up of 24 443.3 subject-years. The most frequent diagnosis was idiopathic disease (30.9%), HLA-B27-positive uveitis (20.0%), and sarcoidosis (4.7%). Infectious etiologies (24.1%) were most commonly from herpes zoster virus (9.3%) and toxoplasmosis (4.3%). The age-adjusted mortality rate was higher in subjects with idiopathic disease, sarcoidosis, Fuchs’ uveitis syndrome, granulomatosis with polyangiitis/ANCA-associated vasculitis, toxoplasmosis, and herpes zoster virus, when compared to HLA-B27-positive uveitis. Hazard of mortality peaked in the first seven years following diagnosis, then subsequently declined. Patients with uveitis/scleritis had a significantly higher rate of mortality compared to the general New Zealand population (IRR 1.656 p = 0.017). Conclusion Infectious etiologies of uveitis/scleritis in this cohort were high when compared to other developed nations, attributable to data from a tertiary referral center treating inpatients. Potential shared inflammatory mechanisms in the eye and other organs can lead to concurrent non-ocular disease requiring systemic treatment, impacting an individual’s longevity.

Unraveling the Spectrum of Uveitis: Insights from an Epidemiological Study in a National Referral Center in Northern Italy

ABSTRACT Purpose Uveitis embraces a heterogeneous group of vision-threatening inflammatory conditions. Understanding uveitis epidemiology, etiology, and clinical findings is fundamental for a prompt diagnosis and optimal patient management. The aim of the study is to report the epidemiology of uveitis in a national referral center in Northern Italy and investigate the visual prognosis. Methods This retrospective study was conducted at Uveitis Service (Ospedale San Raffaele) between June 2016 and May 2023. Demographic data, clinical characteristics, and etiological diagnoses of uveitis patients were collected, and visual prognosis was longitudinally explored. Results 1105 patients with uveitis were included in the study, while 47 patients presented neoplastic masquerade syndrome and have been excluded. The population had a slight majority of females (M/F ratio = 0.76), mean age was 47 years. 25% presented infectious uveitis, primarily due to herpetic etiology, toxoplasmosis, and tuberculosis. Non-infectious uveitis was the most prevalent diagnosis (38%), with sarcoidosis, HLA-B27-associated uveitis, and Fuch’s uveitis as prominent causes. Anatomically, anterior segment was most frequently involved (41%). Significant improvement in visual acuity was observed at follow-up, particularly in patients with infectious uveitis. Conclusions Our study sheds light into the epidemiological landscape of uveitis in Northern Italy, reflecting changing patterns due to factors such as migration and changing sexual habits. In particular, higher percentages of syphilis have been observed, compared to other European reports. The distribution of non-infectious uveitis reflects other epidemiological European series. Higher percentages of neoplastic masquerade syndromes support the need of early recognition. Our findings offer precious insights for uveitis epidemiology and daily clinical practice.

Fundus Autofluorescence in Posterior and Panuveitis-An Under-Estimated Imaging Technique: A Review and Case Series.

Fundus autofluorescence (FAF) is a prompt and non-invasive imaging modality helpful in detecting pathological abnormalities within the retina and the choroid. This narrative review and case series provides an overview on the current application of FAF in posterior and panuveitis. The literature was reviewed for articles on lesion characteristics on FAF of specific posterior and panuveitis entities as well as benefits and limitations of FAF for diagnosing and monitoring disease. FAF characteristics are described for non-infectious and infectious uveitis forms as well as masquerade syndromes. Dependent on the uveitis entity, FAF is of diagnostic value in detecting disease and following the clinical course. Currently available FAF modalities which differ in excitation wavelengths can provide different pathological insights depending on disease entity and activity. Further studies on the comparison of FAF modalities and their individual value for uveitis diagnosis and monitoring are warranted.

Epidemiology, clinical features, and classification of 3,404 patients with uveitis: Colombian Uveitis Multicenter Study (COL-UVEA).

To describe the epidemiology, clinical features, and classification of uveitis in a large cohort of Colombian patients. Data were collected from seven ophthalmological referral centers in the four main cities in Colombia. The study included patients with a confirmed diagnosis of uveitisfrom January 2010 to December 2022. Information on demographics, ophthalmic examination findings, uveitis classification, and etiology was recorded. The study reviewed 3,404 clinical records of patients with uveitis. The mean age at diagnosis was 41.1 (SD 19.0) years, and 54.2% of the patients were female. Overall, 1,341(39.4%) were infectious, 626 (18.4%) non-infectious, and four masquerade syndromes (0.1%). The most common types of uveitis were unilateral (66.7%), acute (48.3%), and non-granulomatous (83%). Anterior uveitis was the most common anatomical localization (49.5%), followed by posterior uveitis (22.9%), panuveitis (22.3%), and intermediate uveitis (5.2%). A diagnosis was established in 3,252 (95.5%) cases; idiopathic was the most common cause (27.7%), followed by toxoplasmosis (25.3%) and virus-associated uveitis (6.4%). The age group between 30 and 50 exhibited the highest frequency of uveitis. This multicenter study comprehensively describes uveitis characteristics in Colombian patients, providing valuable insights into its demographic and clinical features. The study findings emphasize the need to continue updating the changing patternsof uveitis to improve diagnosis and treatment strategies for diseases associated with intraocular inflammation.

Malignant masquerade syndromes

Some malignant diseases may masquerade in the eye as uveitis. The purpose of the talk is to give an overview of the possibilities of diagnosis and treatment of the recognized malignant masquerade syndromes. Among these, the most frequent is intraocular lymphoma, but also other haematological malignancies such as leukaemia, thrombocytopenia, macroglobulinaemia or other malignancies such as melanoma or retinoblastoma, and many others, are also included. Diagnosis of masquerade syndromes should be considered in all patients with idiopathic corticosteroid‐resistant chronic uveitis. Timely diagnosis and treatment may in case of malignant masquerade syndromes improve prognosis and sometimes gain control over this potentially lethal disease.

Immunotherapy induced uveitis

Uveitis can affect all layers of the eye and may be due to various etiologies: autoimmune, infectious, iatrogenic or masquerade syndrome. Recently, a new iatrogenic uveitis entity has been associated with cancer immunotherapy (CIT).Immune checkpoint inhibitors and targeted therapies including BRAF and MEK inhibitors are increasingly used for treatment of metastatic malignancies. There is currently 10 immune checkpoint inhibitors (ICPIs) targeting one of three ligands, leading to T‐cell activation for attack against malignant cells. These ligands include cytotoxic T‐lymphocyte antigen‐4 (CTLA‐4, ipilimumab), programmed death protein 1 (PD‐1, pembrolizumab, nivolumab), and programmed death ligand‐1 (PD‐L1, atezolizumab, avelumab, durvalumab).ICPIs overcome T‐cell inhibition and increases the activity of immune system and the loss of immune homeostasis, which can lead to autoimmune/inflammatory side effects, termed immune‐related adverse events (IRAEs). IRAEs can include ophthalmic manifestations as uveitis, which can very between anterior uveitis, intermediate uveitis, and panuveitis, but also some cases of ocular surface disorders, optic neuropathy and orbitopathy.The aim of my presentation is therefore to describe ICPI‐induced ocular IRAEs, more specifically the uveitis, detailing the anatomical specificities, potential risk factors, workup, and the management through an adapted treatment, and outcome, in relation to the outcome of the underlying tumour.

Good Syndrome: Cytomegalovirus retinitis case challenge.

To describe cytomegalovirus retinitis in a patient with Good syndrome (hypogammaglobulinemia and thymoma), ocular progression despite treatment, and fatal outcome. A 71-year-old woman with unilateral panuveitis of unknown cause and a history of thymoma resection was referred to our clinic. Visual acuity (VA) was 20/100 in her right eye (OD) and light perception in her left eye (OS). In slit-lamp examination, OD had inferior fine pigmented keratic precipitates, 2+ anterior chamber (AC) cells, cataract, and 2+ vitreous cells, no fundus detail, and normal ocular ultrasound. OS presented a white cataract, chronic hypotony, and increased choroidal thickness with calcifications. Laboratory evaluations were normal or negative for common causes of infection and inflammation. Prednisolone acetate eye drops were started, with improvement of AC inflammation. Cataract surgery was performed, reaching VA of 20/30. Two years later, VA had decreased and 2+ vitritis and retinitis were found. On clinical suspicion of masquerade syndrome, a vitrectomy biopsy was performed; pathology reported no data on ocular lymphoma. Leukopenia and lymphopenia were found: immunoglobulin levels, CD4 count, and viral load revealed systemic immunosuppression. The aqueous tap was positive for cytomegalovirus. Oral valganciclovir and intravitreal ganciclovir were initiated. In a patient with previous resection of thymoma and hypogammaglobulinemia, final diagnosis was Good syndrome, with CMVR being secondary to immunosuppression. Despite treatment, CMVR progressed and systemic deterioration resulted in mortal outcome. Good syndrome is an extremely rare disease and association with CMVR is uncommon. To our knowledge, only 14 cases exist in the literature.

Bilateral hypopyon uveitis in carcinoma of breast: Masquerade syndrome and review of literature

Maquerade syndromes are a group of ocular diseases that mimic inflammation but are due to neoplastic or less commonly non- neoplastic diseases. Metastatic choroidal disease is the most frequent clinical feature in carcinoma breast. We report a rare presentation of simultaneous uveal and orbital involvement in a 60- year-old lady with invasive ductal carcinoma. She had masquerade syndrome with acute hypopyon uveitis, angle closure glaucoma and panophthalmitis due to breast carcinoma. Anterior uveitis was due to an immune response which rapidly progressed to panophthalmitis because of orbital metastasis.

A 4-ball hypopyon—How to approach?

The masquerade syndrome comprises of a group of disorders that mimic an ocular inflammatory disease, but require specific treatment. Endophthalmitis is ocular inflammation of intraocular fluids and tissues, which can be either infectious or sterile. In our case report, we discuss the management of a unique case of a pigmented hypopyon in a 45-year-old female.

The large Hellenic Study of Uveitis: epidemiology, etiologic factors and classification

PurposeTo analyse the demography, etiology, and classification of uveitis at a tertiary academic referral center.MethodsAn 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.ResultsOut 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 populationConclusionsAlthough 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.

X-Linked Retinoschisis Masquerading Uveitis.

X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS (n = 4), and patients referred to a clinic for inherited retinal diseases (n = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; p = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies.

Masquerade syndrome: Retinal biopsy to diagnose primary intraocular lymphoma

Masquerade syndrome: Retinal biopsy to diagnose primary intraocular lymphoma

De Novo Uveitis in the Colombian Elderly Population: Characteristics and Comparison with Patients Under 60 Years of Age

ABSTRACT Purpose To describe the differences between de novo uveitis in elderly patients (≥60 years of age) and younger patients (< 60 years of age) in Colombia. Methods Observational, analytic, cross-sectional study. Results In the elderly group, idiopathic was the most common type of uveitis, followed by immune-mediated and infectious uveitis.No masquerade syndromes were diagnosed. Elderly patients had worse average visual acuities than young. Significant differences between both groups were observed in corneal edema, macular edema, cataract, glaucoma, and epiretinal membrane. Additionally, there were differences in the drugs used, such as topical hypotensive drugs, ocular lubricants, topical steroids, methotrexate, hydroxychloroquine, and adalimumab. Conclusion The present study demonstrated significant differences between elderly and young Colombian patients with de novo uveitis. The ophthalmologists should be aware of these patterns of presentation, which would help reach an adequate diagnosis and prevent complications based on the characteristics of each group.

15 years of PVRL‐experience of Prague uveitis Centre

AbstractIntravitreal lymphoma is a malignant masquerade syndrome which is crucial to identify among uveitis patients because of its life‐threatening nature.A total of 35 immunocompetent patients, 15 men and 20 women, were observed with vitreoretinal lymphoma in the Centre for Diagnosis and Treatment of Uveitis in Prague between the years 2003 to 2019. Primary vitreoretinal lymphoma (PVRL) was diagnosed in 15 patients, 6 patients from this group did not show any CNS involvement nor had an intraocular relapse during the observation period. The clinical manifestation of lymphoma in our patients was usually the vitreous haze, sometimes accompanied by retinal lesions and anterior chamber cells with or without keratic precipitates. In our observation, the diagnosis was determined by cytology or/and flow cytometry from vitreous analysis in all patients with exception of 4 patients with clinically highly suspicious finding of vitreous. Beside the vitritis, retinal infiltration was present in 3 of these 4 patients. From this group of 4 patients, the diagnosis was confirmed from brain biopsy in 3 patients and lung biopsy in 1 patient. The vitreous analysis was negative for lymphoma in 2 patients and in 2 patients' vitreous analysis was not performed. Over the years, the sensitivity of VRL detection from vitreous sample became very high, in our observation 94%.All patients diagnosed with VRL by vitreous analysis were sent to haemato‐oncologist work‐up. Treatment was decided by the consensus of a haemato‐oncologist and an ophthalmologist according to the clinical manifestation. Combination of intravitreal and systemic chemotherapy is recommended in many reports. There has been a decline in ocular and brain radiotherapy in recent years because of the unpredictable and irreversible nature of its side effects. Autologous stem cell transplantation (ASCT) following systemic chemotherapy was indicated in 3 patients. The relapse of lymphoma was observed in 13 patients, first relapse was after 11–120 months (median 32 months).Supported by research project AZV MZ CR NU20‐03‐00253.

Clinical significance of serum and vitreous soluble interleukin-2 receptor in patients with intraocular lymphoma

BackgroundIntraocular lymphoma (IOL) is a masquerade syndrome that mimics uveitis, making diagnosis difficult. The serum soluble interleukin-2 receptor (sIL-2R), which is cleaved by matrix metalloproteinase (MMP) -2 and MMP-9, has been recognized as a tumor-related biomarker of malignant lymphomas. The aim of this study was to review the reliability of serum and vitreous sIL-2R for distinguishing IOL from uveitis.MethodsPatients who underwent diagnostic vitrectomy for marked vitreous haze at Hokkaido University Hospital between April 2014 and June 2019 were enrolled. The patients were divided into an IOL group and a uveitis group, according to the pathology of their vitreous samples. The IOL group was further divided at the time of vitrectomy into patients who already had extraocular involvement (IOL with extraocular involvement group) and patients with no evidence of having extraocular involvement (IOL without extraocular involvement group). Serum sIL-2R, and intravitreal sIL-2R, MMP-2, and MMP-9 levels were assessed.ResultsTwenty-five eyes of 25 patients, and 15 eyes of 15 patients were included in the IOL group and uveitis group, respectively. The serum sIL-2R levels were significantly lower in the IOL group than in the uveitis group (P < 0.05), and 20.0% and 66.7% in the IOL and the uveitis group showed high sIL-2R value above the normal range. Vitreous sIL-2R tended to be higher in the IOL group than in the uveitis group (P = 0.80). Serum sIL-2R was significantly lower in the IOL without extraocular involvement group than in the IOL with extraocular involvement group (P < 0.05); 5.9% in the IOL without extraocular involvement group and 50.0% in the IOL with extraocular involvement group showed high sIL-2R value above the normal range. Vitreous sIL-2R, MMP-2, and MMP-9 tended to be higher in the IOL with extraocular involvement group than in the IOL without extraocular involvement group (P = 0.30, < 0.05, 0.16).ConclusionsSerum sIL-2R is often within the normal range in IOL patients. Even if it is within the normal range, the possibility of IOL should be considered. Serum sIL-2R is not a reliable biomarker for IOL, whereas vitreous sIL-2R may be useful for the diagnosis of IOL.

Uveitis masquerade syndrome as an early manifestation of precursor B-cell acute lymphoblastic leukaemia: a case report

Background: To report a case of paediatric precursor B-cell acute lymphoblastic leukaemia (ALL) presenting as uveitis masquerade syndrome (UMS).&#x0D; Case presentation: A 3-year-old girl with neutropenic sepsis presented with poor fixation and right preferential gaze. Vision was light perception and counting fingers in OD and OS with bilateral panuveitis, and OS Roth spots, retinal haemorrhages, and exudates. Vitreous biopsy was negative for organisms, malignant cells, and blasts. Bone marrow aspiration and trephine biopsy (BMAT) was inconclusive for leukaemia and orbital MRI showed no infiltration. She improved with antimicrobials and steroids. During rehospitalization 6 months later for neutropenic sepsis, BMAT showed 80% blasts confirming B-cell precursor ALL, requiring chemotherapy. OD vision remained poor with band keratopathy, keratoconjunctivitis sicca, seclusio pupillae, cataract, and vitreous haemorrhage. OS vision improved partially with a macular scar.&#x0D; Conclusion: Paediatric precursor B-cell ALL may present as UMS. Prompt diagnosis and treatment may increase survival and visual potential.