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Primary hyperoxaluria type 1 (PH1) is a rare disease due to alanine glyoxylate aminotransferase enzyme deficiency caused by mutations in AGXT gene. Increased oxalate causes crystalline deposits in the eye particularly in conjunctiva, cornea, iris, retina, and choroid. A 20-month-old boy was referred with a diagnosis of infantile PH1. There were numerous yellowish crystalline deposits at the posterior pole and hyperpigmented lesions were detected around the macula. Enhanced depth imaging optical coherence tomography (EDI-OCT) revealed dome-shaped retinal pigment epithelium elevations, subretinal and intraretinal hyperreflective material and also choroidal hyperreflective lesions. To the best of our knowledge, this is the first case to document choroidal deposition by EDI-OCT at such an early period of life. [ Ophthalmic Surg Lasers Imaging Retina 2022;53:697–700.]

OBJECTIVES To analyse the entity of retinal vasculitis, including frosted branch angiitis (FBA), or retina vascular occlusion in patients with familial Mediterranean fever (FMF). METHODS Retrospective collaborative case series using invitation by email to uveitis specialists around the Mediterranean basin. This series was combined with a literature review. Exclusion criteria included infectious diseases, Behcet's disease or other autoimmune diseases. RESULTS A total of 16 patients (21 eyes) had FMF and retinal vasculitis (FBA 11 patients, mild retinal vasculitis 5 patients). The mean age at onset of vasculitis was 29.5 ± 13.4 (range 9-62) with a female to male ratio of 9 to 7. In 19 eyes treated with various forms of corticosteroid and/or immunosuppression, the mean initial spectacle-corrected visual acuity improved from 6/194 to 6/10.5 at the last mean follow-up of 29.0 ± 34.9 months (p

BACKGROUND/OBJECTIVES: To analyze the ophthalmic characteristics of congenital prepapillary vascular loop (PVL) and to propose a new morphologic classification dividing the loops into six types. SUBJECTS/METHODS: Collaborative multinational multicentre retrospective study of PVL cases. RESULTS: There was a total of 49 cases (61 eyes), 37 unilateral (75.5%) and 12 bilateral (24.5%), 32 arterial type (65.3%) and 18 venous type (36.7%) (one patient had either kind in each eye). The mean number of loops per eye was 2.7 (range, 1-7). The loops were asymptomatic in 42 cases (85.7%). Other findings included: the presence of cilioretinal artery (14 cases), retinal vascular tortuosity (26 cases), amaurosis fugax (1 case), branch retinal artery occlusion (1 case) and vitreous haemorrhage (3 cases). Six morphologic loop types could be discerned based on elevation (flat vs. elevated), shape (figure of 8 or corkscrew with hyaline sheath), number (multiple or single), location (central or peripheral), lumen size (arterial vs. arteriolar) and presence of vascular tortuosity or vitreous traction. CONCLUSIONS: PVL are usually asymptomatic and can be divided into six morphologic types with different pathogenesis during early embryogenesis.

Purpose: To develop an algorithm for the diagnosis of Behçet's disease (BD) uveitis based on ocular findings.Methods: Following an initial survey among uveitis experts, we collected multi-center retrospective data on 211 patients with BD uveitis and 207 patients with other uveitides, and identified ocular findings with a high diagnostic odds ratio (DOR). Subsequently, we collected multi-center prospective data on 127 patients with BD uveitis and 322 controls and developed a diagnostic algorithm using Classification and Regression Tree (CART) analysis and expert opinion.Results: We identified 10 items with DOR >5. The items that provided the highest accuracy in CART analysis included superficial retinal infiltrate, signs of occlusive retinal vasculitis, and diffuse retinal capillary leakage as well as the absence of granulomatous anterior uveitis or choroiditis in patients with vitritis.Conclusion: This study provides a diagnostic tree for BD uveitis that needs to be validated in future studies.

We aimed to evaluate the retina and the choroid in children with juvenile idiopathic arthritis (JIA) employing optical coherence tomography (OCT). This cross-sectional study, carried out between June 2017–December 2019, included JIA patients with (JIAU; n = 28) and without (JIAN; n = 65) uveitis and age-matched healthy controls (HC) (n = 102). Laboratory and demographic information of the children were obtained from hospital records. Activity of the disease was evaluated by the Juvenile Arthritis Disease Activity Score-71 (JADAS-71). Choroidal scans were obtained with spectral domain-OCT in enhanced-depth imaging (EDI)-OCT mode to assess choroidal thickness (ChT) at five locations (under the fovea, at 750 and 1500 μm nasal and temporal sections), luminal area (LA), stromal area (SA), total subfoveal choroidal area (TCA) and CVI (choroidal vascularity index). Central foveal thickness (CFT) and 1-mm diameter foveal thickness (FT) were calculated automatically through macular volume scan analysis. The choroid was significantly thicker in JIAU and JIAN patients than in HC at the subfoveal and at the 750N, 750T, 1500T points (p

Objective: To compare the peripapillary retinal nerve fiber layer (pRNFL) thickness and macular volume in patients with multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and healthy controls. Materials and Methods: This study used spectral domain-optical coherence tomography to measure pRNFL and the volume of retinal layers at the macula. Forty patients with MS or NMOSD and 19 healthy controls were enrolled. Results: After at least one clinical episode of optic neuritis, the average pRNFL for NMOSD [60 µm (34-105)] and patients with MS [85 µm (41-109)] were lower than in healthy controls [99 µm (88-109)], and patients with NMOSD had significantly lower pRNFL compared with patients with MS (p=0.002). Foveal volume did not differ between optic neuritis eyes of patients with NMOSD and MS (NMOSD 1.18±0.3 mm3, MS 1.82±2.07 mm3). The mean pRNFL values in seronegative NMOSD eyes [58 µm (range, 47-111)] tended to be thinner compared with seropositive NMOSD eyes [76 µm (range, 42-105)]. This finding was not considered to be statistically significant. Conclusion: Our study revealed that both foveal (area in a 1.5 mm ETDRS ring) and total macular volume (area in a 6 mm ETDRS ring) were lower in both patients with MS and NMOSD compared with healthy controls. Optic neuritis of NMOSD is associated with a thinner average RNFL compared with MS, suggesting earlier axonal injury in the affected optic nerves.

Purpose To assess efficacy and safety of sarilumab, a human anti-interleukin-6 receptor antibody, for treatment of posterior segment noninfectious uveitis (NIU). Design Randomized, double-masked, placebo-controlled, phase 2 study. Participants Fifty-eight patients (eyes) with noninfectious intermediate, posterior, or panuveitis. Methods Eyes received treatment every 2 weeks for 16 weeks with subcutaneous sarilumab 200 mg or placebo. Main Outcome Measures The primary end point was the proportion of patients with ≥2-step reduction in vitreous haze (VH) on the Miami scale or with a reduction of systemic corticosteroids (prednisolone or equivalent) to a dose of Results At week 16, proportion of patients taking sarilumab or placebo with ≥2-step reduction in VH or corticosteroid dose Conclusions Subcutaneous sarilumab may provide clinical benefits in the management of NIU of the posterior segment, especially in eyes with uveitic macular edema.

Objectives: Age-related macular degeneration (AMD) is a progressive disorder among people aged ≥50 years. Some dietary factors associated with the susceptibility to AMD include dietary glyc...

Background: The extent of neurodegeneration in the earliest stages of central nervous system (CNS) demyelination is not known. Optical coherence tomography (OCT) is a powerful tool to study neurodegeneration in demyelinating disorders. Objectives: To study neuroaxonal loss in the retina of individuals with radiologically isolated syndrome (RIS) and investigate whether OCT measurements are associated with brain volumetrics and clinical conversion to multiple sclerosis (MS). Methods: Subjects fulfilling the Okuda criteria for RIS ( n = 15 patients, 30 eyes) and age- and sex-matched healthy controls (HC) underwent spectral-domain OCT and magnetic resonance imaging for volumetric measurement of brain structures. Results: Macular ganglion cell-inner plexiform layer (mGCIPL), macular retinal nerve fiber layer (mRNFL), and temporal peripapillary RNFL (pRNFL) thickness; normalized total brain volume (nTBV); and normalized thalamic volume (nTV) were reduced in RIS compared to HC. mGCIPL, mRNFL, and pRNFL measurements were associated with nTBV, nTV, and normalized gray and white matter volumes in the RIS group. pRNFL was thinner in individuals with RIS who converted to MS in 5 years. Conclusions: Retinal neurodegeneration can be detected in the papillomacular region in the earliest stages of CNS demyelination and reflects global disease processes in the brain. OCT can be potentially useful for predicting prognosis in RIS.

Predominantly hemorrhage represents one of the possible manifestations of choroidal neovascularisation (CNV) in eyes with age-related macular degeneration (AMD). The purpose of this study is to evaluate the effecte of ranibizumab treatment in patients with predominantly hemorrhagic CNV secondary to AMD.Twenty-five patients with predominantly hemorrhagic choroidal neovascularization due to AMD with at least three ranibizumab injections and followed up for at least 12 months were included in the study. The months of follow-up were recorded (baseline, 3The mean age of the patients was 68.1±5.7 (range: 63-82) years, the mean follow-up was 19.9±14.5 (range: 12-67) months, and the mean number of injections was 4.0±1.4 (range: 3-15). The initial VA was 39.3±17.9 (range: 1-65) letters, CMT was 272.7±104 (range: 164-587) μm, and the initial lesion width was 11.4±10.5 (range: 1.3-45.7) mmAlthough the final visual outcome is limited by the progression of the disease, hemorrhagic lesions treated with ranibizumab have stable anatomical outcome.

PurposeTo ascertain the anatomic factors that help achieve non-surgical sealing in full thickness macular hole (FTMH).MethodsRetrospective collaborative study of FTMH that closed without surgical intervention.ResultsA total of 78 patients (mean age 57.9 years) included 18 patients with blunt ocular trauma, 18 patients that received topical or intravitreal therapies and 42 patients with idiopathic FTMH. Mean±SD of the initial corrected visual acuity (VA) in logMAR improved from 0.65±0.54 to 0.34±0.45 (pConclusionOur data suggest an observation period in new onset FTMH for non-surgical closure, in the setting of trauma, treatment of CME and size

Background/purpose To assess EDI-OCT (enhanced depth imaging optical coherence tomography) of choroid for inflammatory signs in children with polyarteritis nodosa (PAN) and adenosine deaminase-2 deficiency (DADA-2). Methods In this cross-sectional study conducted between June 2017 and September 2018, we evaluated children diagnosed with PAN (n = 11) and DADA-2 (n = 4) and an age- and sex-matched control group (n = 15). Demographic and laboratory data were retrospectively analyzed from patient charts. Disease activity was assessed using the pediatric vasculitis activity score (PVAS). Choroidal images were obtained with spectral domain-OCT to measure choroidal thickness (ChT) at 5 points (750 and 1500 μm from the foveal center in the temporal and nasal quadrants and beneath the fovea), and to calculate the total subfoveal choroidal area (TCA), luminal area (LA), stromal area (SA), and the choroidal vascularity index (CVI). Results The median (min-max) age was 8 (4–16) years in PAN patients, 6 (5–16) years in DADA-2 patients and 8 (8–10) years in control group at the OCT visit (p = 0.214). The ChT at 3 points and the TCA, LA, and SA were higher in children with both PAN and DADA-2 patients compared to those of the control group (p p = 0.049, p = 0.007, p = 0.007, p = 0.006, p = 0.033, respectively). The CVI was similar in both groups. No association was observed between the OCT findings, PVAS, and the erythrocyte sedimentation rate, and serum leukocyte and C-reactive protein levels. Conclusion Similar CVI scores were obtained from PAN and DADA2 patients under treatment and from healthy controls. Increased subfoveal ChT without any other signs of ocular involvement may suggest choroidal thickening as a sign of mild subclinical inflammation.

ObjectiveThe aim of this study was to conduct a detailed ophthalmological examination in children with systemic lupus erythematosus (jSLE), including choroidal thickness (ChT), choroidal vascularity index (CVI) and peripapillary retinal nerve fiber layer (RNFL).MethodsThe study included all jSLE patients ( n = 21) diagnosed according to the Systemic Lupus International Collaborating Clinics classification criteria between January 2017 and April 2017, and an age- and gender-matched control group ( n = 21). The Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) was used to assess disease activity. After routine eye examinations, ChT at five points (750 µ and 1500 µ from the center of the fovea both in the temporal and nasal quadrants and under the fovea), total subfoveal choroidal area (TCA), luminal area (LA), stromal area (SA), CVI and RNFL thickness at the optic disc were evaluated.ResultsOne patient had active ocular involvement in the form of episcleritis. Another patient had corticosteroid-induced cataract. The median age of the patients was 16 years (6-19 years). ChT at five points, TCA, LA and SA were found to be higher in patients with jSLE, whereas RNFL thickness and CVI were similar to those of the healthy control individuals. No correlation was determined between optical coherence tomography findings, SLEDAI and the immunological parameters (antinuclear antibodies, anti-double-stranded DNA, complements 3 and 4, extracted nuclear antigen antibody, antiphospholipid antibody). Intraretinal and subretinal fluid was not present in any of the patients.ConclusionThe choroid was thicker in patients with jSLE than in the control group. The study results suggest that jSLE may affect the choroid. Ophthalmological evaluation is important in SLE patients, even in the absence of relevant complaints.

To determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey.In this multicenter, epidemiologic observational study, patients with idiopathic bilateral juvenile cataract (aged ≥1 year at study entry) were identified from the records of 31 ophthalmology clinics. The Mignarri suspicion index determined in all potential CTX patients; blood samples were collected, and genetic testing for CYP27A1 gene mutation was performed. Cholestanol levels of the patients were measured, and those with a level of ≥3.75 μg/mL (threshold value) underwent genetic testing for mutations in the CYP27A1 gene.CTX was diagnosed in 7 of 452 patients (1.55%) with bilateral juvenile cataract. There was no significant difference between patients with a Mignarri score of100 (n = 8) and those with a score of ≥100 (n = 19) with respect to cholestanol levels and genetic test results. Genetic testing was undertaken in 27 patients based on elevated cholestanol levels. Of these 27, 7 (26%) had CYP27A1 gene mutations. Of these 7 patients with genetically confirmed CTX, 5 (71%) were in the group with higher Mignarri score (≥100).CTX is a treatable condition, and early detection is crucial for avoiding irreversible neurological manifestations. Screening using the Mignarri suspicion index and cholestanol blood levels can be helpful in identifying suspected cases of CTX.

Objective: To compare the visual and anatomical outcomes of intravitreal ranibizumab (group 1), bevacizumab (group 2), and triamcinolone (group 3) for center-involving diabetic macular edema. Methods: We retrospectively enrolled 275 eyes of 208 consecutive patients. Visual acuity (VA) in Early Treatment Diabetic Retinopathy Study (ETDRS) letters and central macular thickness (CMT) values on optical coherence tomography were extracted. Reported side effects were noted. Results: At 6 months, the mean changes in VA in group 1, group 2, and group 3 were +4.9, +4.3, and +4.6 letters, respectively (p = 0.911). Improvement of CMT at 6 and 24 months was significantly better in group 3 compared to groups 1 and 2 (p = 0.012 and p = 0.001, respectively). At 24 months, the only independent variable affecting the change in VA was initial VA (p = 0.020). Cataract and glaucoma prevalences were higher in group 3 (p = 0.000 and p = 0.001, respectively). Conclusions: Three treatment methods had similar effects with regard to improvement in VA; however, intravitreal triamcinolone provided additional anatomical improvement.

Objective: Evaluation of Complement Factor I (CFI) rs10033900 and rs2285714 polymorphism frequencies in patients with age-related macular degeneration (AMD) and healthy controls in a Turkish population. Methods: A total of 111 eyes of 111 AMD patients and 96 eyes of 96 healthy controls, only one eye of individuals, were included in the study; however, 2 patients’ and 4 controls’ samples were excluded as analyses could not be performed for rs10033900 polymorphism. The AMD patients and control group (>50 years) lacked corneal, lenticular, vitreal opacity. However, these patients did not have any retinal diseases apart from AMD. Venous blood samples of patients were collected. Central macular thickness, subfoveal choroidal thickness (SCT), presence of reticular drusen, epiretinal membrane, and pigment epithelial detachment were investigated using Spectral-Domain Optical Coherence Tomography, and the largest diameter of atrophic areas measured. Drusen properties were documented from fundus photographs. The lesion width was calculated by using fundus fluorescein angiography. Results: There was no difference between patient and control groups and polymorphism distributions. The frequency of the CT allele was higher in patients with dry-type AMD with retinal pigment epithelial abnormality (p = 0.041). SCT was significantly thinner in TT allele carriers with rs2285714 polymorphism (p = 0.030). No significant relationship was found between the other parameters and polymorphism distributions. Con­clusion: CFI rs10033900 and rs2285714 polymorphisms in a Turkish population were not associated with AMD.

Background Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis affecting small or medium arteries with a negative ANCA serology and no evidence of glomerulonephritis. Objectives The aim of this study was to evaluate the choroid with optical coherence tomography (OCT) in children with polyarteritis nodosa (PAN) and adenosine deaminase-2 deficiency (DADA-2). Methods The study included all PAN and DADA-2 patients (n=15), examined between June 2017 and September 2018, and an age and gender-matched control group (n=15). After ocular examination, choroidal images taken with sd-OCT (Heidelberg Spectralis) were evaluated with regard to choroidal thickness (ChT) at five points (750 and 1500 microns from the center of the fovea both in the temporal, nasal quadrant and under the fovea), total subfoveal choroidal area (TCA), luminal area (LA), stromal area (SA) and choroidal vascularity index (CVI). Results None of the patients had active ocular complaints or findings. The mean (±SD) age was 8.4 ± 3.69 years. ChT at 3 points, TCA, LA, and SA were found to be higher in patients with PAN and DADA-2. The CVI values were similar in both groups. No correlations were found between the OCT findings, activity score index (PVAS) and the biochemical parameters (Erythrocyte sedimentation rate, leukocyte, C-Reactive Protein). Conclusion The results of this study showed that the choroid was thicker in patients with PAN and DADA-2 than in the control group, suggesting that PAN and DADA-2 may affect the choroid. Ophthalmologic evaluation is important in PAN and DADA-2 patients, even in the absence of relevant complaints. References [1] Ozen S, Anton J, Arisoy N, et al. Juvenile polyarteritis: results of a multicenter survey of 110 children. J Pediatr. 2004;145(4):517-522. [2] Kur J, Newman EA, Chan-Ling T. Cellular and physiological mechanisms underlying blood flow regulation in the retina and choroid in health and disease. Prog Retin Eye Res. 2012;31(5):377-406. Acknowledgement None Disclosure of Interests Hafize Emine Sonmez: None declared, Abdullah Agin: None declared, Sibel Kadayifcilar: None declared, Ata Baytaroglu: None declared, Ozge Deliktas: None declared, Selcan Demir: None declared, Yelda Bilginer: None declared, Bora Eldem: None declared, Seza Ozen Consultant for: Seza Ozen is receiving consultancy fees from Novartis, Speakers bureau: Roche

A woman with Bietti’s crystalline dystrophy (BCD) was first examined when she was 27 years of age and has been followed for 10 more years. The disease course was monitored initially with spectral domain-optical coherence tomography and then with swept-source optical coherence tomography angiography (OCTA). OCTA analysis showed that choroidal vessels could be visualized at the outer retinal layer segmentation due to retinal pigment epithelial atrophy and blood flow was reduced at the level of choroidal segmentation. OCTA can play a major role in the follow-up of BCD patients by analyzing changes in choroidal flow.

Background/aim We aimed to assess the association between retinal vascular caliber (RVC) scores and disease activity in rheumatoid arthritis (RA) patients. Materials and methods Forty-seven RA patients, 32 systemic lupus erythematosus (SLE) patients, and 45 healthy people were enrolled. RA and SLE patients were subdivided into groups according to C-reactive protein (CRP) levels. RA patients were also grouped according to Disease Activity Score-28 (DAS-28). Fundus photography was performed for all patients. RVC was summarized as the central retinal artery and vein equivalents (CRAE and CRVE). Results Mean CRVE for RA patients was 213.3 ± 17.8 μm compared with 209.2 ± 14.1 μm for SLE and 217.5 ± 26.2 μm for the control group (P = 0.17). RVC scores did not differ between the CRP-high and CRP-low groups. As the RA disease activity increased, the widening of CRVE became more prominent and statistically significant. When the DAS-28 > 5.1 (CRVE, 220.4 (211.8–246.5) μm) group and DAS-28 ≤ 3.2 (CRVE, 214.4 (172.4–242.3) μm) group were compared, statistical significance was more pronounced (P = 0.03) than when comparing the DAS-28 > 3.2 and DAS-28 ≤ 3.2 groups (P = 0.05). Conclusions CRVE, which reflects systemic inflammation and possibly increased cardiovascular risk, was significantly increased in active RA patients. The association between retinal venular widening and disease activity, regardless of CRP, may be a sign that RA-related inflammation may have systemic vascular effects even with normal levels of CRP.

Aim: It is to review the clinical features, and surgical, and visual outcomes of rhegmatogenous retinal detachment in a pediatric population.Material and Methods: Medical records of 31 children aged 16 years old or younger with rhegmatogenous retinal detachment were retrospectively analyzed. Cases of acute retinopathy of prematurity were excluded. The data for etiologies, risk factors, prior intraocular surgery, therapeutic approach options, anatomic and functional results were evaluated.Results: Thirty-three eyes of 31 patients with RRD were evaluated. The mean patient age was 11.42±3.82 years (range 3-16). There were 26 (83.9%) males and 5 (16.1%) females. The most common etiology was trauma. At presentation 57.5% of affected eyes (19/33) had a visual acuity worse than 20/400. Preoperative retinal tear was found in 60.6% (20/33) of patients. At initial examination, proliferative vitreoretinopathy was detected in 36.3% (12/33) of patients. The most common primary operation was scleral buckle with subretinal fluid drainage (69.6%, 23/33). Anatomical reattachment was accomplished in 84.8% of cases (28/33). At the final visit, 78.78% of affected eyes (26/33) had a better visual acuity when compared to preoperative examination. In nine of affected eyes (27.27%), visual acuity was 20/200 or better. Mean follow-up time was 37.5 months (range 3-72). Conclusion: In our series, pediatric RRD occurred most commonly in association with trauma. Most eyes were anatomically reattached, and most eyes retained vision of 20/800 or better. Preserving vision in children with RRD is of great importance because of high risk of vision threatening events to the fellow eye.

To assess efficacy and safety of sarilumab, a human anti-interleukin-6 receptor antibody, for treatment of posterior segment noninfectious uveitis (NIU).Randomized, double-masked, placebo-controlled, phase 2 study.Fifty-eight patients (eyes) with noninfectious intermediate, posterior, or panuveitis.Eyes received treatment every 2 weeks for 16 weeks with subcutaneous sarilumab 200 mg or placebo.The primary end point was the proportion of patients with ≥2-step reduction in vitreous haze (VH) on the Miami scale or with a reduction of systemic corticosteroids (prednisolone or equivalent) to a dose of10 mg/day at week 16. Primary end point was based on VH evaluation by a central reading center. Investigator evaluation of VH was a prespecified, planned secondary analysis.At week 16, proportion of patients taking sarilumab or placebo with ≥2-step reduction in VH or corticosteroid dose10 mg/day was 46.1% vs. 30.0% (P = 0.2354) based on central reading center assessment of VH and 64.0% vs. 35.0% (P = 0.0372) based on investigator assessment of VH, respectively. In the subgroup of eyes with VH grade ≥2 at baseline, the mean VH reduction from baseline to week 16 was significantly greater with sarilumab vs. placebo regardless of assessment by the central reading center (-2.1 [n = 11] vs. -1.7 [n = 3], respectively; P = 0.0255) or investigator (-2.5 [n = 19] vs. -1.2 [n = 11], respectively; P = 0.0170). The mean best-corrected visual acuity gain from baseline to week 16 was greater with sarilumab vs. placebo in the overall population (8.9 vs. 3.6 letters, respectively; P = 0.0333) and in the subgroup of eyes with central subfield thickness (CST) ≥300 μm at baseline (12.2 [n = 13] vs. 2.1 [n = 7] letters, respectively; P = 0.0517). Corresponding changes in CST were -46.8 vs. +2.6 μm (P = 0.0683) in the overall population and -112.5 [n = 13] vs. -1.8 [n = 6] μm (P = 0.1317) in the subgroup of eyes with CST ≥300 μm at baseline, respectively. The most common ocular adverse events were worsening of uveitis (0 [placebo] and 3 [sarilumab] patients) and retinal infiltrates (1 [placebo] and 2 [sarilumab] patients).Subcutaneous sarilumab may provide clinical benefits in the management of NIU of the posterior segment, especially in eyes with uveitic macular edema.

Topic: An international, expert-led consensus initiative to develop systematic, evidence-based recommendations for the treatment of noninfectious uveitis in the era of biologics. Clinical relevance: The availability of biologic agents for the treatment of human eye disease has altered practice patterns for the management of noninfectious uveitis. Current guidelines are insufficient to assure optimal use of noncorticosteroid systemic immunomodulatory agents. Methods: An international expert steering committee comprising 9 uveitis specialists (including both ophthalmologists and rheumatologists) identified clinical questions and, together with 6 bibliographic fellows trained in uveitis, conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol systematic review of the literature (English language studies from January 1996 through June 2016 ; Medline [OVID], the Central Cochrane library, EMBASE, CINAHL, SCOPUS, BIOSIS, and Web of Science). Publications included randomized controlled trials, prospective and retrospective studies with sufficient follow-up, case series with 15 cases or more, peer-reviewed articles, and hand-searched conference abstracts from key conferences. The proposed statements were circulated among 130 international uveitis experts for review. A total of 44 globally representative group members met in late 2016 to refine these guidelines using a modified Delphi technique and assigned Oxford levels of evidence. Results: In total, 10 questions were addressed resulting in 21 evidence-based guidance statements covering the following topics: when to start noncorticosteroid immunomodulatory therapy, including both biologic and nonbiologic agents ; what data to collect before treatment ; when to modify or withdraw treatment ; how to select agents based on individual efficacy and safety profiles ; and evidence in specific uveitic conditions. Shared decision-making, communication among providers and safety monitoring also were addressed as part of the recommendations. Pharmacoeconomic considerations were not addressed. Conclusions: Consensus guidelines were developed based on published literature, expert opinion, and practical experience to bridge the gap between clinical needs and medical evidence to support the treatment of patients with noninfectious uveitis with noncorticosteroid immunomodulatory agents.

AIM: To investigate the long-term visual and anatomical outcomes of patients who underwent intravitreal ranibizumab monotherapy to treat neovascular age-related macular degeneration (AMD) and followed-up for at least 2y. METHODS: A total of 74 eyes of 74 patients who underwent ranibizumab monotherapy for neovascular AMD were included in this retrospective study. RESULTS: The average patient age was 72.1±6.5 (range, 57-85)y, the average follow-up time 46.2±13.1 (range, 24-75)mo, and the average number of visits 24.1±9.5 (range, 8-48). The mean number of injections in year 1 was 4.5, 1.6 in year 2, 0.9 in year 3, 0.4 on year 4, and 0.1 in the following years. Within the entire follow-up period, the mean number of injections was 7.6±4.4 (range, 2-21). The mean visual acuity was 48.1±15 (range, 15-76) letters at baseline and 45.7±19 (range, 7-75) at year 5. The mean central macular thickness was 303±78 (range, 178-552) µm at baseline and 251±51 (range, 138-359) µm at year 5. Scars developed in 47 (63.5%) eyes at the end of the follow-up period, and atrophy was evident in 6 (8.1%) eyes. CONCLUSION: Ranibizumab monotherapy can stabilize visual acuity for a mean period of 4y in patients with neovascular AMD.

Purpose To evaluate the efficacy of 0.7 mg intravitreal dexamethasone implant in the treatment of radiation maculopathy after stereotactic radiotherapy for posterior uveal melanoma. Methods Retrospective chart review of seven eyes of seven consecutive patients was performed. Extracted data included age, sex, initial and follow-up visual acuities and central macular thickness values, intraocular pressure, follow-up time, number of implants, and time elapsed from radiotherapy to implantation. Main outcome measures were visual acuity and central macular thickness. Glaucoma, cataract formation, or systemic side effects, if any, were recorded. Results Female to male ratio was 4:3. Mean age was 49.9 ± 17.0 (range: 27-73). Initial mean visual acuity was 20.4 ± 12.5 Early Treatment Diabetic Retinopathy Study letters and initial central macular thickness measured 514.1 ± 135.1 μm on spectral domain optical coherence tomography. All patients except one showed improvement in visual acuity and a mean improvement of 7.4 ± 6.2 letters was observed in the whole group (range: 0-16). The mean reduction in central macular thickness was 226.7 ± 157.0 μm after a mean 9.1 ± 3.4 months of follow-up. On average, implantation of intravitreal dexamethasone was performed 35.2 ± 16.5 months after radiotherapy. Four patients were treatment naive and three had previous intravitreal bevacizumab injections with limited response. Ozurdex reimplantations were performed in four patients and the mean number of injections was 1.7 ± 0.8. Mean time to reimplantation was 5.0 ± 2.12 months. Only one patient developed posterior subcapsular cataract and all patients had intraocular pressures within normal limits. No systemic side effects were observed. Conclusion In our experience, intravitreal implantation of 0.7 mg dexamethasone is an anatomically, and to a lesser extent functionally effective procedure for radiation maculopathy after stereotactic radiotherapy for posterior uveal melanoma.

WOS: 000413425400010, PubMed: 28884960, Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.

To compare visual outcomes, number of visits and ranibizumab injections in patients treated with a WaitExtend (WE) or TreatObserve (TO) regimen.This 12-month, randomized, multicentre, open-label study enrolled patients aged ≥ 50 years with choroidal neovascularization (CNV) secondary to AMD who had not received anti-VEGF agents. Patients received three monthly injections of ranibizumab before randomization (1:1): (i) TO patients were examined monthly and retreated if needed, (ii) WE patients had a follow-up visit 1 month later. If no lesions were active, the interval to the next visit was extended by 2 weeks to a maximum of 8 weeks. Active lesions were re-treated and the follow-up schedule restarted. Primary end-point was change in BCVA at Month 12.Of the 104 screened patients, 99 were eligible and received ≥ 1 ranibizumab injection; 93 were randomized (TO: 45, WE: 48). The median (interquartile range [IQR]) change in BCVA (logMAR) from baseline at Month 12 was similar between groups (TO: -0.12 [0.38]; WE: -0.18 [0.32], p = 0.267). Median (IQR) number of visits at study end (including screening, baseline and control visit after 1st injection) was 15.0 (1.0) for TO, and 12.0 (2.0) for WE (p0.001). Injection numbers were similar between groups (median [IQR]: 6.0 [3.0] and 5.0 [4.0], respectively, p = 0.215). Adverse events were similar between groups.WE regimen resulted in a similar efficacy and safety profile to the labelled TO regimen in patients with CNV secondary to AMD, and may help reduce the burden of follow-up visits.

The purpose of this study was to assess retinal vascular characteristics of patients with Laron syndrome (LS) as a genetic model of IGF-I deficiency before and after rhIGF1/IGFBP3 treatment and to compare them with healthy controls.A total of 28 subjects (11 LS, and 17 controls) were enrolled. Patients with LS received combined rhIGF1/rhIGFBP3 1-2 mg/kg/d in a single dose and digital fundus imaging was performed. The number of branching points and tortuosity of retinal vessels were studied. Pre- and post-treatment findings were compared with each other and with controls.The number of branching points was significantly lower in patients with LS in comparison to controls (12.73 ± 3.41, and 17.47 ± 5.82 respectively, p = 0.012). This difference persisted after treatment (12.09 ± 2.66 post-treatment LS versus controls, p = 0.017). Tortuosity indices of nasal arteries (NA) were significantly less in LS than that of controls (upper NA 1.07 ± 0.04 and 1.12 ± 0.06 respectively p = 0.022; lower NA 1.07 ± 0.03 and 1.13 ± 0.07 respectively, p = 0.004). This difference also persisted following treatment (p 0.05). Remaining vessels did not differ in tortuosity index. There was no significant difference of tortuosity index and number of branching points before and after treatment in patients with LS.Retinal vascular development may be adversely affected in the setting of severe IGF-I deficiency confirming a major role for GH/IGF-I axis during retinal vascular development in humans antenatally. Resolution of IGF-I deficiency following birth using rhIGF1, however, may not reverse these changes, suggesting that IGF-I may be necessary but insufficient by itself for postnatal angiogenesis.

We report the autofluorescence pattern and optical coherence tomography (OCT) characteristics in a 6-year-old boy with glutathione synthetase deficiency. The patient underwent complete ophthalmological examination, including full-field electroretinography, visual evoked potentials, fundus autofluorescence, and OCT imaging. Electrophysiological studies showed time-delay and subnormal responses. Fundus autofluorescence imaging revealed increased parafoveal autofluorescence compared to normal, and OCT showed alteration of photoreceptor and retinal pigment epithelium layers in the parafoveal region.

To evaluate the safety and efficacy of gevokizumab for the treatment of Behçet's disease uveitis in a prospective, open-label, randomized phase 2 trial.Behçet's disease patients with new acute ocular exacerbation or at risk of exacerbation received 30 or 60 mg gevokizumab every 4 weeks intravenously or subcutaneously, on top of a stable regimen of immunosuppressives and corticosteroids (≤20 mg/day equivalent prednisolone). Patients withdrew in cases of ocular exacerbation.A total of 21 patients were included (17 acute and 4 at-risk; mean duration of uveitis 45.6 ± 37.4 months). There were no serious adverse events related to gevokizumab. Recorded adverse events were mostly associated with exacerbation of uveitis or its complications. Response was evaluated for 14 acute patients and all showed rapid control of acute ocular exacerbation, mostly within 1 week, without any increase in corticosteroid dosage.Gevokizumab was well tolerated and rapidly controlled acute ocular exacerbations of Behçet's disease uveitis without the need for high-dose corticosteroid.

Sarcoidosis, a multisystem disorder of unknown etiology that involves multiple organs, is rare in children. The true incidence and prevalence of childhood sarcoidosis is unknown. As in adults, many children with sarcoidosis may be asymptomatic; the disease may remain undiagnosed. A complete and systematic evaluation of the patient is essential for the sarcoidosis diagnosis in children. Here, we describe a case of 12-year-old female who presented with 2 years history of uveitis and hepatosplenomegaly. A chest computerized tomography revealed scattered peripheral pulmonary nodules and bilateral hiliar lymphadenopathy. Bone marrow aspiration and liver biopsy were not diagnostic. A lung biopsy showed non-necrotizing epithelioid cell granulomas. She was diagnosed with sarcoidosis according to demonstration of granulomatous

Sarcoidosis, a multisystem disorder of unknown etiology that involves multiple organs, is rare in children. The true incidence and prevalence of childhood sarcoidosis is unknown. As in adults, many children with sarcoidosis may be asymptomatic; the disease may remain undiagnosed. A complete and systematic evaluation of the patient is essential for the sarcoidosis diagnosis in children. Here, we describe a case of 12-year-old female who presented with 2 years history of uveitis and hepatosplenomegaly. A chest computerized tomography revealed scattered peripheral pulmonary nodules and bilateral hiliar lymphadenopathy. Bone marrow aspiration and liver biopsy were not diagnostic. A lung biopsy showed non-necrotizing epithelioid cell granulomas. She was diagnosed with sarcoidosis according to demonstration of granulomatous inflammation and the exclusion of confusable entitiesLa sarcoidosis, un trastorno multiorgánico de etiología desconocida que afecta varios órganos, es poco frecuente en los niños. Se desconocen la incidencia y la prevalencia reales de la sarcoidosis infantil. Al igual que en los adultos, muchos niños con sarcoidosis tal vez no presentan síntomas y la enfermedad cursa sin diagnosticarse. Es fundamental realizar una evaluación completa y sistemática del paciente para establecer el diagnóstico de sarcoidosis en los niños. Se describe el caso de una niña de 12 años con uveítis y hepatoesplenomegalia de dos años de evolución. Mediante una tomografía computarizada del tórax, se hallaron nódulos pulmonares periféricos dispersos y linfadenopatía hiliar bilateral. La aspiración de médula ósea y la biopsia de hígado no fueron diagnósticas. La biopsia de pulmón mostró granulomas de células epitelioides no necrosantes. A la paciente se le diagnosticó sarcoidosis en virtud del hallazgo de inflamación granulomatosa y de la exclusión de entidades confusoras.

PURPOSE To evaluate the changes in choroidal thickness (ChT) and intraocular pressure (IOP) during the water drinking test (WDT) in patients with exfoliation syndrome (XFS). MATERIALS AND METHODS In this prospective study, 20 eyes of 20 patients with XFS and 20 eyes of 20 healthy subjects underwent measurements of subfoveal ChT, IOP, systolic and diastolic blood pressure before and 30 and 60 minutes after the WDT. WDT involved ingestion of 1 L of water within 5 minutes. χ test and analysis of variance were used for the statistical analysis. RESULTS There were no significant differences between the 2 groups with respect to age (P = 0.238), sex (P = 1.000), central corneal thickness (P = 0.714), axial length (P = 1.000), diastolic blood pressure (P = 0.350), systolic blood pressure (P = 0.064), and IOP (P = 0.234) before water ingestion. Baseline ChT was lower in the XFS group (285.1 ± 69.1 μm) as compared with that of controls (339.4 ± 81.2 μm) (P = 0.028). ChT was found to be significantly increased at 30 and 60 minutes after water ingestion in the XFS group (P < 0.001), whereas in the control group an increase was found only at the 60-minute time-point (P = 0.028). Independent of baseline ChT, at 60-minute endpoint, the magnitude of choroidal expansion was higher in XFS eyes (13.2 ± 14.3%) compared with control eyes (6.2 ± 3.5%) (P = 0.028). The mean IOP was higher at all time-points with respect to their respective baseline values in both XFS (P = 0.002, P < 0.001) and control (P = 0.038, P = 0.002) eyes. CONCLUSIONS Choroidal expansion during WDT does not seem to be an important mechanism for IOP elevation in healthy eyes or those with XFS. Furthermore, the similarity of IOP increase to controls suggests that trabecular outflow facility is not impaired in eyes with XFS.

Purpose.To report the efficacy of hyperbaric oxygen (HBO) therapy in a case of branch retinal artery occlusion (BRAO) in a 15-year-old boy.Methods.We report a 15-year-old boy with sudden loss of vision due to BRAO. Examination included laboratory evaluation for systemic risk factors. Follow-up exams included visual acuity, fundus examination, fundus fluorescein angiography, and visual field testing. HBO therapy was employed for treatment.Results.Medical history was positive for isolated glucocorticoid deficiency. Laboratory evaluation disclosed hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) mutation. The visual acuity 0.05 at presentation improved to 0.8 after 20 days of HBO therapy. There was no change on visual fields.Conclusion.In this pediatric case, HBO therapy was useful in the treatment of BRAO.

We conducted this study to elucidate the possible role of interleukin-6 (IL-6) in the pathogenesis of proliferative diabetic retinopathy (PDR).Together with pertinent clinical and laboratory data, intravitreal and serum concentrations of IL-6 were determined in 8 patients with PDR by means of enzyme-linked immunosorbent assay (ELISA). The results were compared with data from 8 nondiabetic control subjects undergoing vitrectomy.Significantly higher intravitreal IL-6 concentrations were found in patients with PDR (mean [SD], 755 [177] pg/mL) compared with control subjects (93 [151] pg/mL) (p = 0.001). The serum IL-6 levels in the PDR group were lower than the measurable threshold of the ELISA kit (0.16 pg/mL). Diabetic patients with macular edema had a higher mean (SD) level of intravitreal IL-6 (896 [73] pg/mL) compared with patients without macular edema (613 [119] pg/mL) (Mann-Whitney U test, p = 0.03). Correlation analysis did not reveal any significant association between intravitreal IL-6 levels and patient age, duration of either diabetes mellitus or vitreous hemorrhage, panretinal photocoagulation, type of current medical therapy, hyperglycemia, or the biochemical indicators of renal function.IL-6, a proinflammatory cytokine, may have a role in PDR. Intraocular production of IL-6 appears to be responsible for the elevated intravitreal levels observed.

A case of a paraneoplastic vitelliform retinopathy is described in the fellow eye of a 40-year-old woman 4 years after enucleation of her left eye for a ciliochoroidal melanoma. There were multiple yellow subretinal vitelliform-like lesions at the posterior pole, which were hyperautofluorescent and hypofluorescent on fluorescein and indocyanine green angiographies. Spectral-domain optical coherence tomography showed hyperreflective material between the retinal pigment epithelium and the photoreceptor layer. Paraneoplastic vitelliform retinopathy may appear concomitantly with the development of distant metastases years after treatment of a ciliochoroidal melanoma and may present with symptoms resembling melanoma-associated retinopathy and electroretinogram findings. However, unlike with melanoma-associated retinopathy, the retinal lesions are located between the retinal pigment epithelium and the photoreceptor layer. [ Ophthalmic Surg Lasers Imaging Retina. 2013;44:290–292.]

Purpose: To report cerebral venous thrombosis as a complication of intravenous corticosteroid treatment in a patient with multiple sclerosis. Method: A case report. A 44-year-old woman with a previous diagnosis of multiple sclerosis presented with panuveitis and retinal perivasculitis. Intravenous pulse corticosteroid therapy was given for three days. Results: The panuveitis and retinal periphlebitis began to resolve within one week; however, ten days after the last corticosteroid dose, the patient was hospitalized with the diagnosis of cerebral venous thrombosis. Conclusion: Although intravenous corticosteroid treatment for uveitis associated with multiple sclerosis can be very helpful, the patient should be monitored closely for systemic side effects.

Purpose: To evaluate the outcomes and complications of cataract surgery in patients with Behcet's disease. Setting: Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey. Methods: Thirty-three eyes of 26 patients with Behcet's disease that had extracapsular cataract surgery between January 1993 and July 1999 were analyzed retrospectively. The mean age of the patients was 38.9 years (range 20 to 54 years). The mean postoperative follow-up was 22.9 months (range 6 to 66 months). Results: Extracapsular cataract extraction (ECCE) was performed in 22 eyes with and in 6 eyes without intraocular lens (IOL) implantation. Phacoemulsification with IOL implantation was performed in 5 eyes. Postoperatively, the visual acuity was better in 29 eyes (87.8%) and was 0.5 or better in 14 eyes (42.4%). Posterior segment complications of Behcet's disease, mainly optic atrophy and macular alterations from preoperative inflammatory episodes, restricted final acuity. No significant difference was detected in postoperative inflammation among the types of surgery; that is, ECCE, ECCE with IOL implantation, and phacoemulsification with IOL implantation. A neodymium:YAG laser posterior capsulotomy was performed in 3 cases. Conclusions: In patients with Behcet's disease, inflammation after extracapsular surgery was mild when surgery was performed after at least 3 months of no inflammatory signs. The results show that the outcomes of extracapsular cataract surgery mainly depend on the degree of preoperative posterior segment involvement.

AIM—To determine whether a newly identified thrombophilia factor, activated factor VII (FVIIa), is associated with retinal vein occlusion (RVO). METHODS—54 consecutive cases with RVO seen between March and September 1999 were included in the study. 22 cases had central retinal vein occlusion (CRVO) and 32 had branch retinal vein occlusion (BRVO). Ophthalmoscopic examination with detailed medical history was followed by blood analyses for liver and renal functions, cholesterol, triglycerides, complete blood count, and coagulation factors including protein C activity, free protein S, antithrombin III, fibrinogen, and factor VIIa (FVIIa). Data were compared with those of the control group, composed of 19 cases under ophthalmological follow up for refractive errors, presbyopia, or senile cataract. RESULTS—Hypertension was highly prevalent in cases with BRVO. Complete blood count, and liver and kidney function tests were within normal limits in the study group. Two cases had low protein C activity, and one had low free protein S. FVIIa levels were significantly higher in the RVO group than in the control group (p=0.0004). There was no significant difference in FVIIa levels between the CRVO and BRVO groups (p=0.51). CONCLUSION—No haematological parameter except FVIIa differed significantly from that of the control group. Elevation of FVIIa level may play a part in the pathophysiology of both CRVO and BRVO.

Purpose : The goal of the study was to investigate the prevalence of photopsias and formed visual hallucinations (Charles Bonnet syndrome) in patients suffering from low vision. Methods : Eighty patients with low vision due to different ophthalmic pathologies were included in this study. Low vision rehabilitation examination was performed at the Low Vision Unit of our Retina Service. After examination, the patients were asked in a nonthreatening and noninvasive manner whether they had experienced any event of seeing something that really had not existed there at that time. Results : Visual hallucinations and/or photopsias were experienced by 31.25% of the patients. Conclusion : Charles Bonnet syndrome is common in patients with low vision and is not age-dependent.

Purpose: To emphasize the importance of the association of optic disc drusen (ODD) with angioid streaks (AS). Methods: Three patients with ODD and AS underwent a thorough ophthalmic examination including perimetry and B-scan ultrasonography. Fundus fluorescein angiography was performed when indicated. Results: Bilateral ODD associated with AS were present in all of the cases. Pseudoxanthoma elasticum was the definite etiology of the AS in two cases, one of which was complicated by subretinal neovascularization. Laser photocoagulation resulted in closure of the membrane. Conclusions: The follow-up of patients with ODD with regard to the development of AS is essential as ODD may be the earliest clinical manifestation in patients with pseudoxanthoma elasticum, which has potential vision- and life-threatening complications.

Bilginer Y, Haliloglu G, Kadayifcilar S, Bakkaloglu A, Besbas N. Pseudopapilledema in a pediatric kidney transplant recipient. Pediatr Transplantation 2010: 14:E83–E85. © 2009 John Wiley & Sons A/S. Abstract: IIH is a syndrome of increased intracranial pressure characterized by headache, visual disturbance, papilledema with normal cranial neuroimaging. It is associated with many factors in childhood. From the renal perspective renal insufficiency, chronic dialysis, steroid treatment, and recombinant human growth hormone have been associated with IIH. It has also been described in pediatric recipients several months to years following kidney transplantation. In this study, we present a pediatric kidney transplant recipient receiving CyA, prednisone, and mycophenolate mofetil who was discovered to have pseudopapilledema during routine ophthalmological examination. He had no additional signs of increased intracranial pressure. Awareness of possible side effects in the follow-up of these patients may improve management of these children.