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To evaluate 18F-fluorodeoxyglucose Positron Emission Tomography/ultra low dose Computed Tomography (18F-FDG PET/ ULD CT) in the work-up of pediatric uveitis. Retrospective study of 12 children followed for uveitis who underwent whole body 18F-FDG PET/ULD CT between 2011 and 2019. 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. 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. [ABSTRACT FROM AUTHOR]

The use of highly active antiretroviral therapy (HAART) has dramatically modified the natural history of cytomegalovirus retinitis (CMVR) in AIDS patients. In this context, we discontinued maintenance therapy in eight AIDS patients with previous CMVR and a good and persistent immune and virological response to HAART (CD4 ≥ 75/mm3 in all patients, viral load ≤30000 copies of RNA/ml in seven patients and negative CMV viremia in six patients whose viremia was evaluated). The median recurrence-free interval before maintenance discontinuation was 613 days (326-787). No recurrence was observed after a median follow-up of 248 days (183-368) without maintenance therapy. In conclusion, discontinuation of maintenance therapy for CMVR in AIDS patients with good immune response to HAART can be considered and appears to be safe with a careful follow-up. [ABSTRACT FROM AUTHOR]

A patient with AIDS and cytomegalovirus (CMV) retinitis developed a massive bilateral peripheral occlusive vasculopathy with a bilateral neovascularization of the optic disc five weeks after the introduction of highly active antiretroviral therapy (HAART). No associate cause of occlusive vasculopathy was found. Occlusive vasculopathy and optic disc neovascularization may be an immune recovery-related ocular disorder. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the presence of American College of Medical Genetics and Genomics class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in posterior or panuveitis with dystrophic features (PUD) in a Belgian cohort., Methods: Multicentric, retrospective study of PUD cases diagnosed between January 2012 and February 2022. Inherited retinal disease gene panels were analyzed in every patient. Three PUD categories were defined as follows: idiopathic posterior or panuveitis with retinitis pigmentosa-like features (PURPL), idiopathic posterior or panuveitis with other dystrophic features (PUOD), and posterior or panuveitis with established ophthalmological or systemic etiology and dystrophic features (POSED)., Results: The authors included 12 patients (7 women, 5 men). The mean age at inclusion was 52.2 years (26-80 years). Three patients demonstrated class 4 or 5 variants in genes that led to a diagnostic reclassification. One patient had a class 3 variant in an X-linked IRD gene that possibly explained his phenotype. Seven patients had variants in IRD genes that could not explain their phenotype. One patient had a negative panel result., Conclusion: Inherited retinal disease gene panel analysis allowed diagnosis refinement in 3/12 (25%) patients in the PUD cohort, all belonging to the PURPL subgroup. The authors recommend that all patients with PURPL benefit from gene panel testing to avoid overlooking undiagnosed IRDs.

Purpose: To describe the effect of tocilizumab (TCZ) on cystoid macular edema (CME) and retinal vascular leakage (RVL) in retinitis pigmentosa (RP)., Methods: Retrospective case series., Results: We present 2 cases of RP with marked inflammatory features in the form of CME and RVL. There was initial diagnostic uncertainty with posterior uveitis. Both patients were treated with corticosteroids, conventional disease-modifying antirheumatic drugs (cDMARDs), and biological DMARDs (bDMARDs) for the inflammatory features with partial and inconsistent treatment response. When treatment was switched to intravenous (IV) TCZ, dramatic reduction in CME and RVL were observed in both patients. Diagnosis of RP was eventually made based on findings of ancillary tests (macular spectral-domain optical coherence tomography, visual fields, full-field electroretinogram). Genetic testing led to a molecular diagnosis of EYS-related autosomal recessive RP in patient 1, while patient 2 had negative gene panel results., Conclusions: IV TCZ can be an effective treatment option in RP-related CME and RVL. Whether this treatment strategy has an effect on prognosis remains to be established, but it is possible considering chronic CME-related retinal damage is a major driver of central vision loss in RP., (© 2024. The Author(s).)

Purpose: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO)., Methods: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmologic history, complete ophthalmologic examination, antiretinal antibodies, and IRD gene panel results were analyzed in every patient. Four RUO categories were defined: nonparaneoplastic autoimmune retinopathy, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy., Results: The authors included 12 patients (9 females) across these four RUO categories. Mean age at inclusion was 45.6 years (20-68 years). Seven patients demonstrated class 3 variants in IRD genes. Of these, two also demonstrated class 5 variants in other IRD genes. The remaining five patients had negative panel results. IRD gene panel analysis allowed diagnosis refinement in 1 (8.3%) nonparaneoplastic autoimmune retinopathy patient in the RUO cohort. When considering the nonparaneoplastic autoimmune retinopathy subpopulation only, a higher diagnostic yield of 20% (1/5 patients) was achieved., Conclusion: Every suspected nonparaneoplastic autoimmune retinopathy patient should benefit from gene panel testing to not overlook undiagnosed IRDs. By contrast, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy subpopulations did not benefit from genetic testing in this study.

Purpose: To describe an atypical case of chronic central serous chorioretinopathy with acute exacerbation consisting of severe exudation at the site of a retinal pigment epithelium aperture., Methods: Case report., Results: A 39-year-old man presented with a recurrence of central serous chorioretinopathy in the right eye. Initial evaluation was notable for a retinal pigment epithelium aperture overlying a chronic avascular pigment epithelial detachment. He was initially treated with topical dorzolamide and indomethacin. During the follow-up, application of topical dermal steroid for a case of athlete's foot led to severe fibrinous exudation originating from the site of the retinal pigment epithelium aperture. Half-fluence verteporfin photodynamic therapy induced rapid and complete resolution of the retinal findings., Conclusion: Photodynamic therapy allowed for excellent resolution of an atypical exudative and fibrinous form of central serous chorioretinopathy associated with a retinal pigment epithelium aperture.

Purpose: To describe subclinical chorioretinal lesions revealed by indocyanine green angiography (ICGA) and their evolution under systemic treatment in tubulointerstitial nephritis and uveitis (TINU) patients., Methods: Retrospective case series of three patients with TINU syndrome. Choroidal and retinal involvement were assessed by fluorescein angiography (FA) and ICGA., Results: Three patients were analyzed. FA demonstrated hot disc, associated in two cases with retinal vascular leakage, and ICGA revealed subclinical chorioretinal dots in all three cases. Given the presence of posterior uveitis and deterioration of kidney function, asystemic treatment by oral methylprednisolone was started. Persistence of retinal and choroidal inflammations under systemic corticosteroids required association with immunosuppressive agent to control the disease activity., Conclusion: Multimodal imaging and more precisely ICGA is useful to assess subclinical choroidal inflammation and monitor treatment response in TINU syndrome. Immunosuppression needs to be revised and adapted when uveitis and/or kidney function are unresponsive to systemic steroids., Abbreviations: TINU: tubulointerstitial nephritis and uveitis; TIN: tubulointerstitial nephritis; ACE: angiotensin-converting enzyme; RF: rheumatoid factor; Uβ2M: urinary β-2microglobulin; AMPPE: acute multifocal placoid pigment epitheliopathy; FA: fluorescein angiography; ICGA: indocyanine green angiography; CT: computed tomography.

Purpose: To illustrate with multimodal imaging a case of HELLP syndrome (Hemolysis, Elevated Liver enzymes, Low Platelets) complicated by bilateral multifocal serous retinal detachments, subretinal exudation, and papilledema., Methods: Case report. Fundus photography, spectral domain optical coherence tomography (SD-OCT), fluorescein angiography, and indocyanine green angiography were performed at presentation and the day after. We also present the SD-OCT follow-up at 8 days, 1 year, and 4 years., Results: A 25-year-old 5-month-pregnant Guinean woman complained about decreased visual acuity in the right eye. Eye fundus and multimodal imaging were abnormal in both eyes. Spectral domain optical coherence tomography showed the presence of multifocal serous retinal detachments, subretinal deposits, and intraretinal cysts. Indocyanin green angiography revealed an irregular choroidal perfusion and localized choroidal ischemia. Spectral domain optical coherence tomography also provided assessment of retinal changes during the long-term follow-up, showing tissue damage in the outer retina., Conclusion: Serous retinal detachments during pregnancy can be the leading sign of HELLP syndrome-a potentially life-threatening condition. Spectral domain optical coherence tomography is a noninvasive and useful tool for its diagnosis and follow-up. ICG is important to confirm the choroidal ischemia and choroidal vascular abnormalities, underlying conditions leading to main sign of HELLP syndrome in the eye.

Background and Objective: Several cases of central serous chorioretinopathy (CSC) in divers have been reported in our medical retina center over the past few years. This study was designed to evaluate possible changes induced by SCUBA diving in ophthalmic parameters and especially subfoveal choroidal thickness (SFCT), since the choroid seems to play a crucial role in physiopathology of CSC. Materials and Methods: Intraocular pressure (IOP), SFCT, pachymetry, flow-mediated dilation (FMD), blood pressure, and heart rate were measured in 15 healthy volunteer divers before diving, 30 and 60 min after a standard deep dive of 25 m depth for 25 min in a dedicated diving pool (NEMO 33). Results: SFCT reduces significantly to 96.63 ± 13.89% of pre-dive values (p = 0.016) 30 min after diving. It recovers after 60 min reaching control values. IOP decreases to 88.05 ± 10.04% of pre-dive value at 30 min, then increases to 91.42 ± 10.35% of its pre-dive value (both p < 0.0001). Pachymetry shows a slight variation, but is significantly increased to 101.63 ± 1.01% (p = 0.0159) of the pre-dive value, and returns to control level after 60 min. FMD pre-dive was 107 ± 6.7% (p < 0.0001), but post-dive showed a diminished increase to 103 ± 6.5% (p = 0.0132). The pre-post difference was significant (p = 0.03). Conclusion: Endothelial dysfunction leading to arterial stiffness after diving may explain the reduced SFCT observed, but SCUBA diving seems to have miscellaneous consequences on eye parameters. Despite this clear influence on SFCT, no clear relationship between CSC and SCUBA diving can be drawn.

Background: The aim of the present study was to describe the prevalence and progression of DR diagnosed by fluorescein angiography (FA) in patients with type 1 diabetes (T1D) during a 30-year follow-up, and the relationship with glycated haemoglobin (HbA1c)., Materials and Methods: We included 4325 FA reports representing 851 patients with T1D with a mean age at diagnosis of 10.4 years (range: 0.0-49.9) and followed between 1986 and 2015. Clinical characteristics of the population were collected from patients' files. The HbA1c level was measured within a maximum period of ±1 year from the date of FA. Descriptive statistics were realized to study prevalence and progression of DR., Results: At diagnosis of incipient abnormalities, mean age was 22.8 years (range 13.7-46.9) and mean diabetes duration was 13 years (range: 4.3-29.6). Lesions requiring treatment were observed in 5.9% of the patients at a mean age of 32.4 years (range: 30.4-34.3) and a mean diabetes duration of 23.8 years (range: 19.4-28.1). On average, it took 12.9 years (range: 12.2-13.5) to progress from an incipient abnormality to a lesion requiring treatment. Mean HbA1c ± SD was 7.8 ± 1.5% over a period of 30 years., Conclusions: While it could have been expected to observe a higher prevalence of DR, our study described by far the lowest results of prevalence comparing to similar studies, probably due to a good average HbA1c over 30 years., (© 2021 The Authors. Endocrinology, Diabetes & Metabolism published by John Wiley & Sons Ltd.)

Purpose: To report multimodal imaging findings in two cases of AIDS-related cryptococcal chorioretinitis associated with uveitis and vasculitis., Methods: Findings on clinical examination, color fundus photography, fluorescein and indocyanine green angiographies, and optical coherence tomography. Patients . Both patients were diagnosed with Cryptococcus neoformans meningitis in the setting of untreated HIV infection with CD4+ T cell count < 100/mm 3 . Ocular manifestations occurred during the course of the antifungal therapy for meningitis., Results: In both cases, fundus showed vitritis. Fluorescein angiography allowed the characterization of vasculitis lesions, and indocyanine green angiography indicated choroidal involvement. In combination with optical coherence tomography, ICG and FA allowed the assessment of treatment response., Conclusion: These two cases reveal the potential of C. neoformans to infect almost all ocular structures and the critical role of multimodal imaging in baseline evaluation and in the follow-up of patients., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2021 Maria Fernanda Flores Herrera et al.)

Purpose: To present a case of frosted branch periphlebitis in a young Armenian patient with familial Mediterranean fever., Methods: Case report., Results: A 37-year-old man presented with a unilateral decreased visual acuity and floaters for 4 days on the left eye (LE). Visual acuity was 20/20 in the right eye (RE) and 20/28 in the LE. Anterior segment and fundus examinations of the RE were normal. Slit-lamp examination of LE revealed a mild nongranulomatous anterior uveitis and vitritis. Intraocular pressure was 19 mmHg in the RE and 12 mmHg in the LE. Fundoscopy of the LE showed typical appearance of frosted branch periphlebitis with perivascular sheathing of the retinal veins and scattered retinal hemorrhages. Fluorescein angiography of the RE was normal. The LE showed optic disk and segmented vascular staining without macular leakage. Optical coherence tomography of the RE was normal; LE demonstrated a localized macular thickening and few intraretinal cysts. The detailed ophthalmologic history was negative. The general history and workup were significant for familial Mediterranean fever and a positive lupus anticoagulant. One week later, the fundus findings worsened with a severe decrease of visual acuity of the LE to 20/200. A single intravitreal (IVT) injection of bevacizumab was performed. Three weeks after injection, fundus findings progressively improved with a decrease of the macular thickening and an improvement of the visual acuity to 20/25. Clinical improvement continued up to the last visit (19 weeks after the injection) with a visual acuity that reached back 20/20 with no signs of active inflammation., Conclusion: This case demonstrates a possible association between unilateral frosted branch periphlebitis and familial Mediterranean fever.

Purpose: To evaluate the effect of tumor necrosis factor (TNF) inhibitor therapy on ocular relapses in patients with Susac syndrome., Methods: Multicenter retrospective cohort study of patients diagnosed with Susac syndrome according to classical clinical criteria. We evaluated the disease activity before and after introduction of anti-TNF therapy and its value as a steroid-sparing agent., Results: Five patients were included. All were initially treated with a combination of corticosteroids and classical immunosuppressive drugs. Infliximab was started in three patients, and adalimumab was started in two patients. Patients had on average 5 ocular relapses during a mean follow-up time of 2.59 years before introducing a TNF inhibitor, corresponding with on average 1.93 relapses per year. After the introduction of an anti-TNF agent, this number was reduced by factor 5.51 to an average of 0.35 relapses per year for a mean follow-up of 2.86 years (P = 0.10). Before anti-TNF introduction ocular relapses occurred at a mean daily dose of 34 mg of prednisone, whereas with anti-TNF treatment, corticosteroid administration could be completely stopped in four patients with one patient still needing 5 mg daily (P = 0.10). Infliximab and adalimumab generally were well tolerated, and no serious adverse events were reported., Conclusion: Although not statistically significant, our results suggest that anti-TNF therapy can be a valuable option for the treatment of ocular Susac syndrome and may especially be considered in those patients unresponsive to more conventional immunosuppressive treatment.

Purpose: The aim of this study is to report a rare spectral-domain optical coherence tomography finding in the macula., Methods: This is a descriptive consecutive case series. Patients diagnosed with hyperreflective central perpendicular line in the macular spectral-domain optical coherence tomography were included. Best-corrected visual acuity assessment, standard Amsler grid test, biomicroscopic examination and macular spectral-domain optical coherence tomography were performed., Results: We examined three men and one woman, aged 56 to 91 years (average age: 75.25 years). Spectral-domain optical coherence tomography showed a hyperreflective central perpendicular line in five eyes accompanied by vitreofoveal adhesion in all of them. In two eyes, we observed a lifting of the ellipsoid zone, and in one eye the external limiting membrane was also pulled. In one eye, a subtle lifting of the interdigitation zone was revealed. In another eye, we also found a triangular foveolar detachment of the interdigitation zone. Snellen's best-corrected visual acuity ranged from 0.2 to -0.1 logMAR (average of 0.006 logMAR). Amsler grid test was unremarkable in four eyes and metamorphopsia was detected in one eye. One eye developed a full-thickness macular hole several weeks after the phacoemulsification cataract surgery., Conclusion: The presence of a central perpendicular line can be revealed by the macular spectral-domain optical coherence tomography. We hypothesize that this finding could be considered as a sign of vitreomacular traction. In our patients, best-corrected visual acuity was only mildly reduced, and Amsler grid test was affected in only one eye.

Objective: Age-related macular degeneration (ARMD) is a leading cause of visual impairment. Intravitreal injections of anti-vascular endothelial growth factor (VEGF) are the standard treatment for wet ARMD. There is however, variability in patient responses, suggesting patient-specific factors influencing drug efficacy. We tested whether single nucleotide polymorphisms (SNPs) in genes encoding VEGF pathway members contribute to therapy response., Methods and Analysis: A retrospective cohort of 281 European wet ARMD patients treated with anti-VEGF was genotyped for 138 tagging SNPs in the VEGF pathway. Per patient, we collected best corrected visual acuity at baseline, after three loading injections and at 12 months. We also registered the injection number and changes in retinal morphology after three loading injections (central foveal thickness (CFT), intraretinal cysts and serous neuroepithelium detachment). Changes in CFT after 3 months were our primary outcome measure. Association of SNPs to response was assessed by binomial logistic regression. Replication was attempted by associating visual acuity changes to genotypes in an independent Japanese cohort., Results: Association with treatment response was detected for seven SNPs, including in FLT4 (rs55667289: OR=0.746, 95% CI 0.63 to 0.88, p=0.0005) and KDR (rs7691507: OR=1.056, 95% CI 1.02 to 1.10, p=0.005; and rs2305945: OR=0.963, 95% CI 0.93 to 1.00, p=0.0472). Only association with rs55667289 in FLT4 survived multiple testing correction. This SNP was unavailable for testing in the replication cohort. Of six SNPs tested for replication, one was significant although not after multiple testing correction., Conclusion: Identifying genetic variants that define treatment response can help to develop individualised therapeutic approaches for wet ARMD patients and may point towards new targets in non-responders., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: To investigate the effect of a single intravitreal dexamethasone implant (IVT-DI; Ozurdex; Allergan, Inc.) on visual acuity, macular thickness, and intraocular pressure (IOP) in active noninfectious uveitis., Methods: Medical records of patients with noninfectious active uveitis treated by IVT-DIs were retrospectively reviewed. Uveitis etiologies, treatment indications, best corrected visual acuity (BCVA), central retinal thickness measured by ocular coherence tomography, IOP, and systemic, local, and topical treatments were collected. Parameters were analyzed before the injection of the implant, after 1.5 ± 0.8 months and 4.4 ± 0.9 months for the BCVA, after 2 ± 1.3 months and 4.6 ± 1.3 months for the ocular coherence tomography, and after 1.3 ± 0.7 months and 4.4 ± 1 months for the IOP., Results: We included 14 patients (20 eyes, 20 implant injections) with cystoid macular edema (78%), vasculitis (7%), choroiditis (7%), and vasculitis associated with choroiditis (7%). Before the injection, mean visual acuity was 0.4 ± 0.5 logMAR (logarithm of the minimum angle of resolution) that improved to 0.3 ± 0.5 logMAR (P = 0.0002) after 1.5 ± 0.8 months and to 0.3 ± 0.5 logMAR (P = 0.005) after 4.4 ± 0.9 months. A statistically significant decrease of macular thickness was observed both at 2 ± 1.3 months and at 4.6 ± 1.3 months after IVT-DI. Mean IOP was 16 ± 5 mmHg before injections, 18 ± 6 mmHg (P = 0.13) at 1.3 ± 0.7 months, and 15 ± 4 mmHg (P = 0.65) at 4.4 ± 1 months. By Kaplan-Meier analysis, we found that after 3.3 months, 17% of the eyes still present a BCVA amelioration ≥0.3 logMAR., Conclusions: In our patients with active noninfectious uveitis, injection of a first single dexamethasone implant was found to improve visual acuity and decrease macular thickness without significant increase of IOP, although the effect seems limited in time.

Purpose: To present the case of a young Turkish pregnant patient with bilateral, sight-threatening retinal ischemic vasculopathy and systemic signs suggestive of Behçet disease (oral ulceration, arthritis, and pseudofolliculitis)., Methods: Case report., Results: Multiple areas of superficial, retinal white lesions and few hemorrhages related to occlusions of small retinal vessels were observed at presentation in the macular zone of both eyes. There was gradual improvement of retinal lesions after the administration of corticosteroids and immunosuppressive treatment., Conclusion: We report the case of a young pregnant patient with bilateral, sight-threatening retinal ischemic vasculopathy and systemic signs of Behçet disease. Although the systemic signs were highly suggestive of Behçet disease, the ocular presentation was unusual for this multisystemic inflammatory disorder. The differential diagnosis included a number of causes of ischemic retinal vasculopathy, such as systemic vasculitis, antiphospholipid syndrome, Susac syndrome, Purtscher-like retinopathy, and a new variant of acute macular neuroretinopathy (paracentral, acute middle maculopathy), which are further discussed.

Background: Susac syndrome is a rare disease attributed to microangiopathy involving the arterioles of the brain, retina, and cochlea. Understanding the pathogenesis is incomplete, but an immune-mediated process remains the leading hypothesis., Methods: Report of a single case of a previously healthy 22-year-old female patient showing the complete clinical triad., Results: Diagnosis of Susac syndrome in this patient was first questioned due to the atypical initial ophthalmologic presentation with central retinal artery occlusion. Multiple relapses occurred in the fellow eye during follow-up, showing the typical branch retinal artery occlusions, allowing definite diagnosis., Conclusion: Susac syndrome should be considered in the differential diagnosis when facing (young) patients with central retinal artery occlusion, especially in the presence of unexplained encephalopathy and/or sensorineural hearing loss.