Uveitis Workup Research Articles

Macular Optical Coherence Tomography Findings in Patients With Syphilitic Optic Neuropathy-A Case Series and Systematic Review.

Syphilis is a sexually or congenitally acquired infectious disease that can affect multiple organs systems, including the eye. When left undiagnosed and untreated, it can lead to significant morbidity and mortality. Syphilitic optic neuropathy can be difficult to diagnose because it can mimic many other nonsyphilitic causes of optic nerve involvement, leading to delay in treatment. Diagnosing ocular syphilis may be facilitated by assessing for specific outer retina abnormalities on macular optical coherence tomography (OCT). This was a case series and case-based systematic review. For the case series, a retrospective chart review was conducted of all patients who presented to a tertiary university-affiliated neuro-ophthalmology practice over 6 months with undifferentiated optic neuropathy and were eventually diagnosed with syphilitic optic neuropathy. For the systematic review, OVID MEDLINE, EMBASE, and COCHRANE CENTRAL databases were searched to identify all cases of syphilitic optic neuropathy with macular OCT. The primary research outcome was the prevalence of cases with outer retinal abnormalities on OCT. Four cases were identified that were eligible for inclusion. The ages ranged from 27 to 62 years old, and 2 of the patients were female. On examination, vision ranged from Snellen 20/50 to hand motion; all patients had optic neuropathy, and macular OCT revealed chorioretinitis characterized by retinal pigment epithelium (RPE) excrescences. The patients subsequently underwent uveitis workup and were diagnosed with syphilis. They were treated with intravenous penicillin and showed improvement in outer retina appearance on follow-up. The systematic review consisted of 24 cases and 35 eyes with syphilitic optic neuropathy and reported macular OCT findings. Eighty-three percent (20/24) were males, and the mean age was 47.7 years (SD: 49.2). The mean visual acuity at presentation was Snellen 20/57. On fundoscopy, 25.7% (9/35) of eyes had vitritis, whereas 22.8% (8/35) had placoid chorioretinal lesions. On OCT, 45.7% (16/35) of eyes had abnormal outer retina findings, most commonly disruption of the ellipsoid zone (EZ) and/or RPE excrescences. All patients were treated with penicillin or ceftriaxone, and final mean visual acuity was Snellen 20/29. All 4 patients identified in the case series, and nearly half of patients with syphilitic optic neuropathy described in the literature had concurrent-specific outer retina abnormalities (disruption of EZ and/or placoid chorioretinitis in the form of RPE excrescences) seen on macular OCT. We recommend that clinicians obtain macular OCT for all patients presenting with undifferentiated optic neuropathy.

Unmasking an unusual presentation of Hodgkin’s lymphoma masquerading as ocular inflammation: a case report

BackgroundHodgkin’s lymphoma (HL) is an extremely rare cause of ocular inflammation that is usually not considered in the typical workup of uveitis and other eye diseases. A few cases of ocular inflammation were reported previously showcasing HL with absence of typical symptoms of HL at presentation. Acknowledging the potential ocular inflammation associated with HL can prompt ophthalmologists to broaden their diagnostic approach and collaborate with internal medicine departments to investigate this rare yet significant etiology.Case presentationA 17-year-old Caucasian woman presenting unilateral panuveitis was later diagnosed with HL. The ocular findings were non-necrotizing scleritis, anterior uveitis, vitritis, white/yellowish chorioretinal lesions, papillitis and vasculitis. A left supra-clavicular lymph node biopsy confirmed the diagnosis of nodular sclerosing Hodgkin’s lymphoma stage IIB. Other causes of uveitis were excluded. Chemotherapy led to remission of the disease and the ocular lesions became quiescent with persistent pigmented chorioretinal scars.ConclusionsHodgkin's lymphoma should be considered in the differential diagnosis of diseases that can occasionally be revealed by unilateral ocular inflammation. A comprehensive, multidisciplinary approach is key to properly assessing such cases.

Diagnosis of primary vitreoretinal lymphoma masquerading infectious retinitis by retinal biopsy

PurposeTo report a case of primary vitreoretinal lymphoma masquerading as infectious retinitis that was diagnosed via a retinal biopsy.ObservationsA 72-year-old female patient was referred to our ophthalmology clinic for evaluation of retinitis and vasculitis in the right eye (OD). On examination, best-corrected visual acuities (BCVAs) were hand motions OD and 20/20 in the left eye (OS). Fundus examination revealed optic disc edema and diffuse retinal whitening superior to the superotemporal arcade OD. Given the high suspicion of infectious retinitis, the patient was treated with intravitreal foscarnet, systemic acyclovir, and oral prednisone and underwent a comprehensive uveitis workup, which was unremarkable for viral and autoimmune entities. Given the patient’s history of diffuse large B cell lymphoma with cutaneous involvement, vitreoretinal lymphoma was suspected, prompting pars plana vitrectomy with a retinal biopsy. Biopsy and immunohistochemistry results were consistent with B-cell lymphoma, and the patient was treated with high-dose methotrexate and rituximab. At 5-month follow-up, BCVAs were hand motions OD and 20/30 OS, and fundus examination demonstrated disc edema with resolution of retinal whitening OD. She responded well to the treatment with regression of vitreoretinal lymphoma on examination and is being monitored closely for lymphoma recurrence.Conclusions and importanceAlthough uncommon, patients with vitreoretinal lymphoma may masquerade as infectious retinitis, and vitreoretinal lymphoma should be suspected when refractory to antiviral therapy and in the setting of a negative workup for viral etiologies. Vitrectomy with retinal biopsy may be considered to aid the diagnosis of vitreoretinal lymphoma although careful consideration of the risks and benefits is warranted.

IgG4-related uveitis. A French cohort and literature review

IntroductionIgG4-related disease (IgG4-RD) is a fibro-inflammatory disorder that can affect almost any organ. IgG4-related ophthalmic disease is a protean condition involving the orbit and ocular adnexa. Although a few cases of uveitis have been reported, the exact pattern of IgG4-related intraocular manifestations remains unclear. Here, we report on a nationwide French multicenter cohort of patients with IgG4-RD and uveitis and conducted a literature review. MethodsPatients with uveitis and a concomitant definite diagnosis of IgG4-RD (Revised Comprehensive Diagnostic criteria, American College of Rheumatology/European League Against Rheumatism classification criteria for IgG4-RD, International Consensus Diagnostic Criteria for auto-immune pancreatitis, or diagnostic criteria for IgG4-related hypophysitis), were screened from our national IgG4-RD and systemic fibrosis database. Concomitantly, we conducted a PubMed literature review and selected cases of definite IgG4-RD with uveitis. ResultsWe reported on 16 patients (8 from our database and 8 from the literature) and a total of 30 episodes of uveitis. Uveitis cases represented 3 % of total IgG4-RD patients in the national database on IgG4-RD and systemic fibrosis. Uveitis was inaugural in IgG4-RD in 4/16 cases (25 %) (appearing before any other IgG4-related symptom, at a median of 9 months), occurred concurrently to other IgG4-related symptoms in 9/16 cases (56 %) (at a median of 15 months before IgG4-RD diagnosis), and appeared during follow up in 3/16 patients (19 %) (at a median of 57 months after first IgG4-related symptoms). When uveitis occurred during follow up, it was associated with IgG4-RD manifestations in other organs in 6/9 patients (67 %). Uveitis was bilateral in 8/16 cases (50 %) and granulomatous in 5/10 cases (50 %). It was anterior in 8/13 (62 %), intermediate in 3/13 (23 %), and global (panuveitis) in 4/13 patients (31 %). Median serum IgG4 at diagnosis was 3.2 g/L. Median follow up time was of 6 years, during which 8/16 patients (50 %) experienced at least one relapse of uveitis. Treatment data was available for 29/30 uveitis flares. Steroids were used in 28/29 episodes of uveitis (97 %), leading to remission of uveitis in 16/28 cases (57 %). Methotrexate and rituximab (in combination with systemic steroids) were administered as second- or third-line therapy in 6/29 (21 %) and 5/29 (17 %) episodes of uveitis, respectively, and led to remission of uveitis in 4/6 cases (67 %) and 4/5 cases (80 %), respectively. One third of uveitides required at least two different lines of treatment for remission induction (mainly a combination of both systemic steroids and methotrexate or rituximab). Discussion and conclusionsUveitis may be one of the initial symptoms of IgG4-RD, and IgG4-RD should be considered in the diagnostic workup of uveitis. Its early onset in IgG4-RD may help with early diagnosis and treatment of the disease. Steroid monotherapy may be sufficient to treat IgG4-related uveitis, yet relapses were frequent (50 %) and ultimately a third of patients required at least two lines of treatment. Hence, steroid-sparing agents can be considered at early stages of the disease, particularly for patients with a high risk of relapse or steroid-related complications.

Leptospiral uveitis- "Transition 'from epidemic to endemic form" difficulties in laboratory confirmations.

Leptospirosis is a waterborne zoonotic disease that primarily causes systemic illness, followed by uveitis. After heavy flooding in Madurai district, an epidemic outbreak of systemic and ocular leptospirosis occurred in 1994. Our data shows a transition to endemicity after each epidemic. The aim of this study is to report the clinical signs, epidemic outbreaks, and persistent endemicity of leptospiral uveitis, as well as the diagnostic dilemmas associated with it. A retrospective analysis of clinical signs was conducted using medical records of leptospiral uveitis patients over a period of 27 years (1994-2020) in a tertiary care eye hospital. The clinical workup of uveitis included a detailed clinical history, systemic, and ophthalmic examination. Microagglutination tests (MATs) was done at the Centers for Disease Control and Prevention (CDC) in Atlanta and later in our regional laboratory. Serum samples were collected from human systemic leptospirosis cases and a small group of animals in and around Madurai. The first epidemic outbreak resulted in 200 seropositive patients. Subsequent epidemic outbreaks occurred in 1997, 1998, 2001, 2005, and 2012, with Madurai experiencing multiple outbreaks. However, the disease remained endemic, with 25-50 patients being observed per year in between the peaks. Ocular examination revealed acute non-granulomatous uveitis (94.9%), pan uveitis (59.8%), vitreous inflammatory reaction (55.4%), retinal vasculitis (29.5%), disc hyperemia (20.9%), and hypopyon. (16.2%). New serovars emerged every year, resulting in decreased sensitivity of the MAT. Over time, the MAT started to miss diagnoses. The persistent endemicity of leptospiral uveitis emphasizes the need for accessible diagnostic tests. The low performance of the MAT can be attributable to the use of an older panel. The incorporation of new isolates in the MAT by a national laboratory will improve the accuracy of diagnosis.

Необычная причина серпигинозоподобного хориоидита. Связь с инфекцией Mycobacterium Fortuitum в моче?

The purpose of these case reports is to present a case who developed bilateral serpiginous like choroiditis in association with urogenital infection of Mycobacterium Fortuitum. A 49-year-old female who presented with visual loss was diagnosed with bilateral serpiginous like choroiditis. Uveitis workup findings were negative except for a positive tuberculin skin test positivity. Considering the findings and her residence in an endemic area for m. tuberculosis, empirical treatment for tuberculosis was started. Later in the course of the disease, her urine cytology came back positive for ARB, and M. Fortuitum was isolated in the urine cultures. Treatment for atypical mycobacteria resulted in clinical improvement. No relapses of serpiginous like choroiditis occurred following the treatment. This is the first documented case of serpiginous choroiditis related to mycobacterium fortuitum infection in the literature. Non-tuberculous mycobacteria may also cause serpiginous like choroiditis. Keywords: Mycobacterium Fortuitum, Serpiginous-like choroiditis, Uveitis, Urinary tract infection

Review on imaging methods in non-infectious posterior uveitis, principles, relevance, and practical clinical applications to disease entities

The work-up and diagnosis of posterior uveitis rely heavily on multiple imaging methods that have become available beyond the mere photographic imaging and fluorescein angiography (FA) used to image uveitis in the past. Global assessment and precise follow-up of posterior uveitis were achieved with the development of indocyanine green angiography (ICGA) since the mid-1990ties that, together with FA, made it possible to perform dual FA and ICGA giving information on both the retina and the choroidal compartment. Further non-invasive imaging methods were developed subsequently that contributed to additional valuable information completing the dual FA/ICGA basic appraisal of uveitis, including (1) optical coherence tomography (OCT) giving a quasi-histological morphology of retinal structures of the posterior pole, (2) enhanced-depth imaging OCT (EDI-OCT) allowing to image the choroidal compartment and (3) blue light fundus autofluorescence (BAF) showing the integrity or damage of the retinal pigment epithelium, the photoreceptors and the outer retina. OCT-angiography (OCT-A) became available more recently and presented the advantage to image the retinal and choroidal circulations without needing dye injections, necessary for dual FA/ICGA. This review article will illustrate the principles, relevance and practical applications of these different imaging methods used in uveitis by examining the main categories of non-infectious posterior uveitis entities including (1) retinal inflammatory disorders, inflammatory diseases of the outer retina and of the choriocapillaris (choriocapillaritis) and stromal choroiditis.

A delayed diagnosis of ocular toxocariasis presenting as total monocular retinal detachment in an immunocompetent 57-year-old male

A healthy 57-year-old man present to outpatient ophthalmological services in southwestern Connecticut with a 16-month history of unilateral periorbital pain, photophobia, and progressively decreasing visual acuity in his left eye. Prior extensive work-up for uveitis in his home state of Mississippi had yielded no etiology for his symptoms, and empiric therapy with glucocorticoid eye drops had not halted their decline. Fundoscopic examination demonstrated total combined retinal detachment of the left eye. Extensive repeat serological and immunological screening was positive for Toxocara immunoglobulin-G, consistent with a diagnosis of ocular toxocariasis, and the patient completed a course of albendazole with stabilization of symptoms. Despite toxocara being endemic to the United States, diagnoses of ocular toxocariasis are extremely uncommon, with the majority of cases occurring in young children. This unusual case of ocular toxocariasis in a healthy adult serves to illustrate that significant, irreversible morbidity can result from lack of both clinician and public awareness of this parasitic infection.

AAPOS Pediatric Uveitis Committee: Pediatric uveitis cases—a multidisciplinary approach to management challenges

Increased understanding of the evaluation and medical management of noninfectious pediatric uveitis is vital in preventing severe complications and vision loss. In this workshop, the approach to diagnosis, workup, imaging, and management of pediatric uveitis using a multidisciplinary approach will be discussed.

Clinical Utility of 18F-FDG PET/CT in the Work-up of Children with Uveitis

ABSTRACT Purpose To evaluate 18F-fluorodeoxyglucose Positron Emission Tomography/ultra low dose Computed Tomography (18F-FDG PET/ ULD CT) in the work-up of pediatric uveitis. Methods Retrospective study of 12 children followed for uveitis who underwent whole body 18F-FDG PET/ULD CT between 2011 and 2019. Results The average age of the patients was 11 years. A total of 100% of patients presented with bilateral uveitis, 50% had panuveitis and 92% had various choroidal involvement. Relevant information for diagnosis was provided in four patients. 5/12 had an abnormal 18F-FDG uptake. Of these, three patients had pathognomonic images of active granulomatous diseases. Three patients underwent PET CT-guided biopsies of which two were positive for sarcoidosis. Conclusion 18F-FDG PET/CT provided important information for final diagnosis in approximately 30% (4/12) of pediatric patients with bilateral uveitis. Whole body FDG PET/ULD CT can contribute to the final diagnosis thanks to pathognomonic image of active granulomatous disease and/or by indicating metabolically active site of biopsy that would not be visualized in thorax CT.

Clinical course of choroidal neovascular membrane in West Nile virus chorioretinitis: a case report

BackgroundThis report describes the clinical course of choroidal neovascular membrane (CNV) in West Nile virus-associated chorioretinitis.Case presentationA 28-year-old Italian woman was referred to our institution because of reduced visual acuity in the left eye dating back 4 months. A diagnosis of retinal vasculitis in the right eye and chorioretinitis with CNV in the left eye was made. A complete workup for uveitis revealed positivity only for anti-West Nile virus immunoglobulin M (IgM), while immunoglobulin G (IgG) was negative. Whole-body computed tomography and nuclear magnetic resonance imaging of the brain were also negative. Therefore, the patient was treated with a combination of oral prednisone (starting dose 1 mg/kg per day) and three intravitreal injections of bevacizumab 1.25 mg/0.05 ml, 1 month apart. Fourteen days from starting corticosteroid therapy and after the first intravitreal injection, the patient experienced increased visual acuity to 0.4. Response to therapy was monitored by clinical examination, ocular coherence tomography (OCT), OCT angiography and retinal fluorescein angiography. Three months later, resolution of CNV in the left eye was achieved and no signs of retinal vasculitis were detected in the right eye, while serum IgM for West Nile virus turned negative and IgG positive.ConclusionCNV may be a complication of West Nile virus-associated chorioretinitis, and only subclinical retinal vasculitis may also be found even in non-endemic regions.

The Clinical Spectrum and Outcome of Uveomeningitis: A Comprehensive Analysis of 110 Cases

ABSTRACT Purpose: Uveitis can be associated with meningitis (uveomeningitis) and the inflammation shared with the central nervous system. We aimed to describe the characteristics and outcome of uveomeningitis. Methods: We retrospectively analyzed 110 consecutive adult patients with uveomeningitis. Results: The main causes of uveomeningitis were Vogt–Koyanagi–Harada (31%), syphilis (16%), sarcoidosis (12%), Behçet’s disease (7%), and multiple sclerosis (5%). Sixteen percent of uveomeningitis remained of undetermined origin. Compared to etiology-matched uveitis without meningitis, patients with uveomeningitis were younger, had more frequent neurological manifestations, and had more frequent abnormal cerebral magnetic resonance imaging findings. In contrast, no ocular feature upon examination was significantly associated with the presence of meningitis. Patients with uveomeningitis were more frequently treated with immunosuppressants but uveitis relapse and systemic complications did not differ between groups. Conclusion: Uveomeningitis is associated with a limited spectrum of diseases. Meningitis does not seem to impact ocular and extraocular outcomes. Therefore, lumbar puncture should be performed on an individual basis during the diagnostic workup of uveitis.

Fluorescein Angiography Findings in Eyes With Lamellar Macular Hole and Epiretinal Membrane Foveoschisis

PurposeThe purpose of this paper was to study fluorescein angiography (FA) findings in eyes with lamellar macular hole (LMH), and epiretinal membrane (ERM) foveoschisis.MethodsIn this prospective, observational case series, 46 eyes of patients affected by either LMH or ERM foveoschisis were examined using optical coherence tomography (OCT) and FA. All patients underwent a comprehensive ophthalmological examination and a general workup to exclude uveitis. Main outcome measures were: presence of FA abnormalities, measurements of the areas of vascular leakage, and intensity of pixels in the vitreous.ResultsTwenty-four (52.2%) eyes with LMH and 22 (47.8%) with ERM foveoschisis were studied. Overall, FA abnormalities were found in 20 (83.3%) eyes with LMH and 18 (81.8%) with ERM foveoschisis. The median areas of posterior pole and peripheral leakage were 7.52 vs. 1.07 mm2 (P = 0.03) and 21.8 vs. 3.74 mm2 (P = 0.02) in the LMH and ERM foveoschisis group, respectively. Disk hyperfluorescence was found in 8 and 4 eyes and perivascular leak in 10 and 4 eyes with LMH and ERM foveoschisis, respectively. OCT-derived measurements of vitreous intensity did not differ between the two groups, and the investigational workup for uveitis was negative in all patients.ConclusionsDiscrete areas of central and peripheral leakage are commonly found in eyes with LMH and ERM foveoschisis, whereas perivascular leak and hyperfluorescence of the disc are less frequently observed. These findings suggest that breakdown of the retinal blood barrier, involving the posterior pole and the periphery, is frequently associated with these two vitreoretinal disorders.

Association of Anterior Uveitis With Acute Zika Virus Infection in Adults

Acute anterior uveitis has been reported to be associated with Zika virus (ZIKV) infection in case reports and retrospective studies based on systemic clinical signs of ZIKV and positive serologic tests. To describe the ophthalmic findings associated with systemic ZIKV infection during the 2016 ZIKV outbreak in Guadeloupe in the French West Indies. This cohort study assessed adult patients with red eye and virologic or serologic confirmation of acute ZIKV infection who were admitted to the Pointe-à-Pitre University Hospital from January 1, 2016, to January 1, 2017, for a systematic ophthalmologic examination. All patients with anterior uveitis also underwent a complete uveitis workup to rule out other causes of uveitis. Patients were excluded from the study if they had active uveitis and a history of uveitis or positive serology for other infectious diseases including dengue fever virus and chikungunya virus. Data were analyzed from January 1, 2016, to January 1, 2017. Patients with confirmed ZIKV infection underwent full ophthalmic examination at study inception and 3, 6, and 12 months. Description of the presenting ocular characteristics, management, and outcome. Of 62 total patients with a red eye, 32 (51.6%) had no uveitis (mean [SD] age, 27.8 [3.7] years; 26 women [81.3%]) and 30 (48.4%) had anterior uveitis (mean [SD] age, 27.5 [3.8] years; 26 women [86.7%]), which was bilateral in all cases. Acute anterior uveitis was nongranulomatous and without synechiae, exhibiting mild anterior chamber reaction with small keratic precipitates. Ocular hypertension occurred in 25 patients (83.3%) with uveitis at presentation and persisted in 15 patients (50%) at 1 year despite antiglaucoma therapy and control of uveitis. Uveitis responded to topical steroids in all cases. Intraocular pressure was within normal limits for all patients without uveitis throughout the follow-up period. Anterior uveitis was present in almost half of patients with a red eye and acute systemic ZIKV infection; the uveitis was usually bilateral and often associated with increased intraocular pressure. These results suggest that ophthalmic evaluation should be performed in patients with red eye and acute ZIKV infection to potentially detect and manage hypertensive anterior uveitis.

Ocular syphilis

To describe the ocular and general characteristics and to assess prognosis of patients with uveitis, whose syphilis infection was revealed during uveitis workup. Between 2011 and 2019, 14 uveitis patients were diagnosed with syphilis (13 males, 1 female) with symptoms in 25 eyes. Patients' clinical records were analyzed retrospectively. The mean age of patients was 46 years (range 23-72 years). 2 patients did not show up for further dermatological and ophthalmic examinations, and 1 patient was treated at another institute. In the 11 patients we treated, the mean visual acuity observed for the first time in the eyes affected by inflammation was 0.71 (0.001-1.0) in the right eye and 0.53 (0.04-1.0) in the left eye. The mean follow-up was 22 months (1-72). At the end of the follow-up period, the mean visual acuity was 0.9 (0.15-1.0) in the right eye and 0.82 (0.08-1.0) in the left eye. The most common ocular manifestation was posterior uveitis (papillitis, chorioretinitis, or in combined forms) in a total of 20 eyes. After receiving penicillin therapy according the neurosyphilis protocol, inflammatory symptoms resolved in all patients, and at the end of the follow-up, the majority of patients had complete visual recovery. Lower visual acuity was due to optic nerve atrophy and macular damage. In our case series, the patients were predominantly middle-aged men. Although most patients showed posterior segment involvement, with appropriate treatment the visual outcome was good. Orv Hetil. 2020; 161(45): 1927-1935.

Diagnostic value of lymphopaenia and elevated serum ACE in patients with uveitis

AimTo evaluate the diagnostic worth of elevated serum ACE (sACE) and lymphopaenia, singly or combined, in diagnosing sarcoid uveitis.MethodsMonocentric retrospective study, on a cohort of 996 adult patients referred to...

Chest X-ray and Uveitis Evaluation in a Population with Low Incidence of Sarcoidosis.

IntroductionRadiographic chest imaging is utilized in the workup of uveitis, with the purpose of diagnosing sarcoidosis. Sarcoidosis is an idiopathic systemic granulomatous inflammation which accounts for approximately 10% of uveitis. The prevalence of sarcoidosis and uveitis varies widely with geography and ethnicity. We studied the value of chest X-ray (CXR) in the evaluation of uveitis patients in the Western United States. The study was a retrospective chart review of 559 patients presenting to the Uveitis Department at University of Colorado between January 1, 2011 and July 31, 2017.MethodsCXR and/or chest computerized tomography (CT) was obtained in patients with an unknown uveitic diagnosis. Presumed sarcoidosis was defined as the presence of bilateral hilar lymphadenopathy in a patient with uveitis. Age, race, and anatomic location of the uveitis were analyzed.ResultsThe prevalence of sarcoidosis in our population was 4.3%. The discovery rate of sarcoidosis by CXR was 2.6%. Of 12 positive CXRs, 11 were in black patients. Our study identified five previously undiagnosed patients with sarcoidosis, four of whom were black.ConclusionsCXR screening for sarcoid uveitis has a low yield in our population and is most likely to be positive in black patients. The prevalence of sarcoidosis is low in our study but not unlike the findings in similar demographic populations. Although chest CT scan is more sensitive than chest X-ray, the cost and radiation dose are greater; thus CT may not be indicated in low incidence populations.

DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1.

To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included next-generation sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis. Three affected male siblings (26, 16, and 8 years old) were diagnosed with cone-rod dystrophy, featuring bilateral macular hypoautofluorescent lesions. In addition, the eldest brother was found to have retinal vascular leakage throughout the retina without telangiectasia. Uveitis laboratory workup was unremarkable. The homozygous c.1429G>A; p.Gly477Arg mutation in CRB1 was found to segregate with disease in this family. To the best of our knowledge, diffuse vascular leakage without telangiectasia or exudation, with bull's eye maculopathy, has not been reported previously in CRB1-cone rod dystrophy. This expands the phenotype complexity associated with CRB1 mutations and confirms that dystrophies associated with mutations in this gene may appear with features of uveitis.

Lymphocyte Immunophenotyping and CD4/CD8 Ratio in Cerebrospinal Fluid for the Diagnosis of Sarcoidosis-related Uveitis

ABSTRACT Background: This study aimed to assess the diagnostic relevance of CD4/CD8 ratio in cerebrospinal fluid (CSF) for the etiological diagnosis work-up of uveitis. Methods: We consecutively included patients who were referred to our department for the diagnostic workup of intermediate and/or posterior uveitis. Etiological diagnoses were established in a blind manner regarding CD4/CD8 ratio. Results: Fifty-two patients were included. A diagnosis of ocular sarcoidosis was made in 15 (29%) patients, 21% had another determined diagnosis while 50% remained of undetermined origin. Median CD4/CD8 ratio in CSF was 4.57 (IQR 3.39–5.47) in ocular sarcoidosis, 1.74 (1.60–3.18) in uveitis due to other determined cause (P = .008), and 2.83 (2.34–3.54) in those with uveitis of undetermined origin (P = .007). CD4/CD8 ratio >3.23 was associated with a diagnosis of ocular sarcoidosis. Conclusion: Determination of CD4/CD8 ratio in CSF can be useful for diagnosis work-up since a CD4/CD8 ratio >3.23 in CSF is associated with ocular sarcoidosis.

Uveitis: Autoimmunity… and beyond.

Uveitis is the most common ophthalmological finding in the practice of rheumatology and clinical immunology. The condition is frequently idiopathic but about 60 causes of uveitis have been described. Our aim was to analyze the clinical patterns and etiologies of uveitis in a tertiary referral center. The records of 912 consecutive patients referred to the department of internal medicine (Lyon University Hospital, Lyon, France) for the diagnostic work-up of uveitis were examined. Demographic, clinical, anatomical, and etiological features of uveitis were analyzed. The mean age at onset was 48.8 years; 59.8% of the patients were women and 78.2% were Caucasians. Anterior uveitis was the most common type of uveitis (40.6%), followed by panuveitis (31.7%), posterior (18.75%) and intermediate uveitis (9%). 46.9% of the patients had idiopathic uveitis. The most common etiologies were systemic diseases (37.3%), such as sarcoidosis (17.1%), HLA-B27-related uveitis and/or spondyloarthritis (12.5%), and tuberculosis (7.5%). We describe one of the largest cohorts of consecutive uveitis patients referred to a department of internal medicine. The high percentage of uveitis associated with underlying (systemic) diseases highlights the need for a multidisciplinary approach, in order to reduce the diagnostic delay.