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Purpose: To describe intraocular clouding of silicone oil in the absence of emulsification., Methods: Retrospective observational case series of patients who received silicone oil injections and developed silicone oil discoloration without emulsification after pars plana vitrectomy. Clinical examinations and physicochemical analyses were performed to find out the common cause for the opaque oil., Results: Thirteen patients developed silicone oil discoloration after pars plana vitrectomy. It could be traced down that all patients had received silicone oil from one respective production batch. The silicone oil was removed as soon as possible after the changes were detected (range, 8-16 weeks). Gas chromatography flame ionization detector, size exclusion chromatography, and high-performance liquid chromatography analysis showed the absence of low-molecular-weight compounds in the opaque lot. Thermogravimetric analysis revealed the opaque lot was more temperature stable. During the follow-ups, no obvious retinal toxicity could be observed and best-recorded visual acuity improved considerably in 12 patients and was only limited by the underlying retinal pathologic conditions., Conclusion: This is the first report on opacification of intraocular silicone oil without emulsification. This discoloration of silicone oil may disturb vision and prevent proper fundus examination; however, it seems to be a nontoxic phenomenon without serious long-term consequences.

Background: The vascular endothelium is markedly disrupted in sickle cell disease (SCD) and is the converging cascade of the complex pathophysiologic processes linked to sickle cell vasculopathy. Circulating endothelial activation and/or apoptotic markers may reflect this endothelial activation/damage that contributes to the pathophysiology of the SCD vascular complications., Methods: Plasmatic levels of circulating endothelial cells (CECs), E-selectin, progenitor's endothelial cells (EPCs), and circulating extracellular vesicles (EVs) were evaluated in 50 SCD patients, 16 with vasculopathy. The association between these markers and the occurrence of disease-related microvascular injuries of the eye (retinopathy), kidney (nephropathy), and skin (chronic active ulcers) was explored., Results: Among the endothelial activation markers studied, only higher plasma levels of E-selectin were found in SCD patients with vasculopathy (p = .015). Increased E-selectin levels were associated with retinopathy (p < .001) but not with nephropathy or leg ulcers. All patients, at steady state, with or without vasculopathy, did not display a high count of CEC and EPC, markers of endothelial injury and repair. We did not show any significant differences in EVs levels between vasculopathy and not vasculopathy SCD patients., Conclusions: Further studies will be required to determine whether the E-selectin could be used as an early biomarker of retinopathy sickle cell development., (© 2022 The Authors. European Journal of Haematology published by John Wiley & Sons Ltd.)

Background: Optic disc pit-associated maculopathy (ODP-M) is a rare presentation in children. Therefore, only a few pediatric cases successfully managed have been reported in the literature. This video shows successful management of ODP-M with human amniotic membrane graft in a pediatric case presenting with recurrence with intraoperative optical coherence tomography (OCT)., Purpose: To demonstrate a successful management of ODP-M with human amniotic membrane graft in a pediatric case presenting with recurrence., Synopsis: A 13-year-old patient who had been previously operated with 25-G pars plana vitrectomy with double internal limiting membrane peel and juxtapapillary endolaser with SF 6 gas tamponade for optic disc pit-associated maculopathy (ODP-M) presented with recurrence 9 months after primary surgery. Three 25-G sclerotomies were made and human amniotic membrane graft was tucked into the ODP; the position of the graft was confirmed with intraoperative ocular coherence tomography. Subretinal fluid rapidly resolved within 48 h and best-corrected visual acuity improved to 0.5 logMAR after one week. Later follow-ups showed no complications or recurrence., Highlights: This video shows successful management of ODP-M with human amniotic membrane graft in a pediatric case presenting with recurrence with intraoperative optical coherence tomography (OCT), without any additional tamponade., Video Link: https://youtu.be/rM79P7oU7GE., Competing Interests: None

Aim: To report a case of unilateral acute idiopathic maculopathy (UAIM) following SARS-CoV-2 virus infection., Case Description: A 44-year-old male patient, infected with SARS-CoV-2 virus previously, presented to the retina department with complaints of sudden blurring of vision in right eye. His presenting visual acuity in right eye was 20/30, N8. Fundus showed an irregular area of yellowish-white subretinal lesion at the macula involving the fovea with reddish-brown pigment clumps. Retinal imaging findings were consistent with the diagnosis of UAIM. No treatment was given., Results: The imaging findings showed improvement at day 7 post-presentation with improvement in vision to 20/20, N6. At final visit (5-week post presentation), visual acuity was maintained at 20/20, N6 and there was no recurrence of findings., Expert Opinion: Unilateral acute idiopathic maculopathy might be associated with SARS-CoV-2 virus infection., Conclusion: Infection with SARS-CoV-2 virus might be associated with UAIM. Such an association has not yet been described in the literature.

Purpose: To describe the use of hyperbaric oxygen therapy (HBOT) in conjunction with immunosuppression for acute macular neuroretinopathy (AMN) in systemic lupus erythematosus (SLE)., Methods: Two known cases of SLE presented to us with blurred vision and paracentral scotomas due to AMN. Both cases reported worsening of their conditions despite the initiation of high-dose steroid therapy. HBOT was added on as a treatment modality to address vaso-occlusive ischemic injury., Results: Both patients underwent a total of twelve cycles of HBOT. Functional and anatomical improvements were noted immediately after the initiation of therapy and were maintained over more than one year of follow-up. No significant retinal thinning was noted on optical coherence tomography on disease resolution, as has been noted previously. Visual field scotoma showed a complete resolution., Conclusion: Our cases suggest that HBOT may have a role in aiding functional and anatomical recovery in AMN associated with SLE.

Background: Patients with Inherited Retinal Diseases (IRDs) are at increased risk for vision-related anxiety due to progressive and irreversible vision loss, yet little is known about risk factors for anxiety in these patients., Materials and Methods: This was a single-center, retrospective cross-sectional study at a large academic center. 128 adults with an IRD and without other significant eye conditions were recruited between December 2016 and March 2020. Participants were asked about the duration and number of symptoms they had in the following vision domains: reading, contrast vision, color vision, glare/light sensitivity, night vision, and peripheral vision. The outcomes of interest were the two domains of the Michigan Vision-Related Anxiety Questionnaire (MVAQ), rod- and cone-function related anxiety. We conducted an adjusted analysis to isolate the independent effect of duration and number of symptoms on vision-related anxiety., Results: Of 126 participants had complete data, 62 (49%) were female and 64 (51%) were male, with an average age of 49 years (range: 18-87). Patients with duration of symptoms for greater than 25 years had an adjusted anxiety theta that was one-half standard deviations lower than patients with symptoms for less time. Patients with higher number of symptoms had higher anxiety theta after adjusting for confounding variables (p < 0.0001)., Conclusions: The number of symptoms but not the duration of symptoms, is an independent risk factor for vision-related anxiety. Patients with more symptoms are at higher risk for vision-related anxiety. Having symptoms for longer than 25 years may reduce this anxiety.

Importance: The primary contributing factor for development of chorioretinal folds during spaceflight is unknown. Characterizing fold types that develop and tracking their progression may provide insight into the pathophysiology of spaceflight-associated neuro-ocular syndrome and elucidate the risk of fold progression for future exploration-class missions exceeding 12 months in duration., Objective: To determine the incidence and presentation of chorioretinal folds in long-duration International Space Station crew members and objectively quantify the progression of choroidal folds during spaceflight., Design, Setting, and Participants: In this retrospective cohort study, optical coherence tomography scans of the optic nerve head and macula of crew members completing long-duration spaceflight missions were obtained on Earth prior to spaceflight and during flight. A panel of experts examined the scans for the qualitative presence of chorioretinal folds. Peripapillary total retinal thickness was calculated to identify eyes with optic disc edema, and choroidal folds were quantified based on surface roughness within macular and peripapillary regions of interest., Interventions or Exposures: Spaceflight missions ranging 6 to 12 months., Main Outcomes and Measures: Incidence of peripapillary wrinkles, retinal folds, and choroidal folds; peripapillary total retinal thickness; and Bruch membrane surface roughness., Results: A total of 36 crew members were analyzed (mean [SD] age, 46 [6] years; 7 [19%] female). Chorioretinal folds were observed in 12 of 72 eyes (17%; 6 crew members). In eyes with early signs of disc edema, 10 of 42 (24%) had choroidal folds, 4 of 42 (10%) had inner retinal folds, and 2 of 42 (5%) had peripapillary wrinkles. Choroidal folds were observed in all eyes with retinal folds and peripapillary wrinkles. Macular choroidal folds developed in 7 of 12 eyes (4 of 6 crew members) with folds and progressed with mission duration; these folds extended into the fovea in 6 eyes. Circumpapillary choroidal folds developed predominantly superior, nasal, and inferior to the optic nerve head and increased in prevalence and severity with mission duration., Conclusions and Relevance: Choroidal folds were the most common fold type to develop during spaceflight; this differs from reports in idiopathic intracranial hypertension, suggesting differences in the mechanisms underlying fold formation. Quantitative measures demonstrate the development and progression of choroidal folds during weightlessness, and these metrics may help to assess the efficacy of spaceflight-associated neuro-ocular syndrome countermeasures.

Purpose: We present a case of retinal vasculopathy with cerebral leukodystrophy and review the usefulness of optical coherence tomography angiography (OCT-A) in the assessment of long-term outcomes., Case Description: A 31-year-old woman developed sudden-onset scotoma in her right eye. Fundus examination and fluorescein angiography showed a patch of soft exudate and capillary nonperfusion in the posterior pole and outside the vascular arcades. OCT-A revealed that the initial vessel density (VD) of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) of the right eye were 32% and 49.2%, respectively. Interestingly, over time, the VD of the SCP and DCP gradually decreased to 23.1% and 26.2%, respectively. In contrast, the initial VD of the SCP and DCP of the left eye were both stable at 44.3% and 56.2%, respectively, and only decreased slightly to 39.3% and 45.7%, respectively, over time. The average VD loss of the SCP and DCP, assessed over 1 year, was 8% and 13%, respectively, in the right eye, and 3% and 6%, respectively, in the left eye., Conclusion: Based on this case report, in which we demonstrated a long-term decline in VD of the macula in a young woman with mild retinal vasculopathy with cerebral leukodystrophy, we suggest that there is a potential and valuable role for OCT-A in this rare disease.

Asymptomatic retinal emboli are found in 1-3% of patients on routine fundus examination. As the use of teleretinal imaging for diabetic patients and ocular photography continues to increase, the number of asymptomatic retinal emboli found will also increase. This article will discuss the different aetiologies of retinal emboli and will present an overview of the recommended referrals for further systemic testing and treatment. It is important to communicate well with the primary care physician when asymptomatic retinal emboli are detected to ensure the appropriate investigations are undertaken.

Purtscher-like retinopathy is a rare phenomenon reported in disorders including acute pancreatitis, collagen vascular diseases, fat embolism, chronic renal failure, amniotic fluid embolism, battered baby syndrome and several autoimmune diseases. We report an atypical initial feature of rheumatoid arthritis in a middle-aged male. This case will raise awareness among generalists to recognize this disease early.

Purpose: To compare the progression of myopic maculopathy with or without vitrectomy in patients with myopic traction maculopathy (MTM)., Methods: Seventy-seven eyes with MTM were classified into either the observation group (n = 38) or the vitrectomy group (n = 39). Progression of myopic maculopathy was assessed with fundus photography using infrared images. Progression within stage was evaluated as an increase in the area of atrophic lesions on infrared images using ImageJ software. The rate of progression was compared using the paired t -test., Results: The mean follow-up period was 60.0 ± 47.5 months. The initial mean stage of myopic maculopathy for the observation group was 1.86 ± 0.86, and it progressed to 2.00 ± 0.83 ( P = 0.023) at the last visit. For the vitrectomy group, the stage progressed from 1.82 ± 0.96 to 2.05 ± 1.09 ( P = 0.011). Four eyes (10.5%) in the observation group showed progression at 87.3 months, and seven eyes (17.9%) in the vitrectomy group showed progression at 31.3 months., Conclusion: Surgery in patients with MTM may accelerate the progression of myopic maculopathy. Therefore, care should be taken when considering surgery for patients with MTM.

Purpose: To describe a case of proliferative retinopathy as the presenting manifestation of chronic myeloid leukemia in a patient with poorly controlled diabetes mellitus (DM). Undiagnosed chronic myeloid leukemia in a patient with pre-existing poorly controlled DM is rarely encountered but must be recognized to treat appropriately with systemic chemotherapy. Significant fundus finding overlaps with DM making the recognition of chronic myeloid leukemia challenging., Methods: Case report., Results: Fundoscopy revealed scattered dot-blot hemorrhages, venous beading, and numerous Roth spots in all quadrants, in both eyes. In the right eye, there was also a vitreous hemorrhage with evidence of neovascularization near the inferior arcade. Intravenous fluorescein angiography showed significant peripheral capillary nonperfusion without evidence of exudation in both eyes. No macular edema was observed on optical coherence tomography. A review of systems and physical examination was negative for constitutional symptoms, lymphadenopathy, organomegaly, and other symptoms. Retinal findings prompted a complete blood count, which revealed significant leukocytosis. A bone marrow biopsy confirmed a diagnosis of chronic myeloid leukemia. Systemic chemotherapy and pan-retinal photocoagulation successfully normalized the leukocyte count and resolved the vitreous hemorrhage and neovascularization., Conclusion: The presence of numerous Roth spots in all quadrants, extensive areas of capillary nonperfusion on intravenous fluorescein angiography, and neovascularization in the absence of exudation or macular edema should prompt investigations to rule out hematologic disorders.

A 40-year-old male presented with reduced vision in the right eye for one week. He had a history of nasopharyngeal carcinoma for which 34-Gy radiation was administered. The best-corrected visual acuity (BCVA) was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination suggested a bilateral early posterior subcapsular cataract. Fundoscopy revealed bilateral localized telangiectasia and macular edema in the right eye. Diagnosis of bilateral extremely delayed onset radiation retinopathy with right eye macular edema was made. Three doses of intravitreal bevacizumab injection were administered in the right eye. The patient was lost to follow-up due to COVID-19 and presented with recurrence.

Purpose: To explore the clinical features of laser pointer-related retinal injuries among children and gain insight into the general public awareness around laser pointer use., Methods: This was a retrospective case series of 9 children (12 eyes) with laser pointer-related retinal injury from a United Kingdom tertiary ophthalmology unit and a prospective survey of laser pointer use and awareness among children and parents presenting to the hospital eye service for other eye conditions., Results: Within the case series, 67% of patients were asymptomatic on presentation. A mean follow-up of 25.6 months showed that structural changes persisted in all cases, and in one case, there was progression in the macular lesion size. One case presented with secondary choroidal neovascular membrane, requiring intravitreal anti-vascular endothelial growth factor injections. A survey showed that 9% of children admitted to having played with laser pointers and 13% of parents were aware of their children playing with laser pointers. Only one-third of children and parents were aware of laws regulating laser pointers. Most parents (96%) agreed that there needs to be increased awareness regarding laser pointers' effect on vision., Conclusions: This study has highlighted that although children may be asymptomatic at presentation, there is usually permanent structural damage to the macula, and complications such as secondary choroidal neovascular membrane can develop years later. The survey found a relatively high incidence of laser pointer use with little awareness of the regulation laws. There is an urgent need to establish more robust measures to improve public awareness and regulations around laser pointers. [ J Pediatr Ophthalmol Strabismus . 2023;60(1):52-59.] .

Purpose: To describe the clinical and optical coherence tomography (OCT) features of two cases with bilateral diffuse retinal infiltrates as the only presenting feature of chronic myeloid leukemia (CML) on initial diagnosis and upon relapse., Methods: We reported two patients with CML, one at initial diagnosis and one in remission who presented with bilateral subacute visual impairment. Fundal examination revealed bilateral symmetrical leukostatic appearance with increased vascular tortuosity, diffuse retinal infiltrates with size up to 6 disk diameters, retinal hemorrhages, and Roth's spots. OCT showed multiple intra-retinal hyper-reflective foci corresponding to intra-retinal hemorrhages, and outer retinal hyper-reflective foci in area corresponding to retinal infiltrate. The different retinal layers were relatively preserved and distinguishable., Results: White cell count (WCC) were elevated in both patients ranging from 544 to 810 × 10 9 /L. Bone marrow biopsy confirmed the diagnosis of CML in the patient without prior diagnosis and relapse of CML in another patient. Cytogenetic test detected Abelson murine leukemia (ABL) - breakpoint cluster region (BCR) fusion transcript in both cases. Both patients were started on oral imatinib, subsequently WCC returned to within normal values in both cases. Vision and OCT abnormalities improved and reduction in retinal hemorrhages and infiltrates were observed in follow up., Conclusion: This report highlights the important role of ophthalmologists and detailed fundus examination in making a prompt diagnosis of leukemia in patients with visual complaints. Appropriate systemic investigation and hematologist referrals for prompt treatment of CML may improve survival rate and preserve vision.

Purpose: To report a case of accidental self-inflicted handheld Laser-Induced Maculopathy (HLIM)., Methods: Observational case report with clinical and ocular imaging features of a patient with HLIM., Results: A 31-year-old male patient presented with sudden diminution of vision in both eyes after accidental exposure to a handheld green laser. At presentation, best corrected visual acuity in both eyes was 20/100. Fundus examination showed vertical linear lesions radiating in dendritic patterns involving fovea in both eyes. Swept source OCT revealed hyper-reflectivity in outer nuclear and outer plexiform layers and disruption of the ellipsoid zone. OCT angiography at the level of choriocapillaris showed flow void areas suggesting choroidal ischaemia., Conclusion: Handheld laser pointers can cause direct photothermal injury to retinal pigment epithelium and inner choroid. It is important to be aware of this clinical entity and its characteristic pattern of plaque like lesions at macula with linear radiating dendritic extensions.

Competing Interests: The study was approved by the review board of the Tianjin Medical University Eye Hospital. Written informed consent was obtained from the patient and her parents. The authors have no funding or conflicts of interest to declare.

Purpose: To report a case with acute posterior multifocal placoid pigment epitheliopathy (APMPPE)-like presentation following the first dose of BNT162b2 COVID-19 vaccination., Case Report: An otherwise healthy 45-year-old woman presented with a headache and blurred vision in her right eye 7 days after the administration of first dose of mRNA (BNT162b2) COVID-19 vaccine. Fundus examination of the right eye revealed multiple discrete yellow-white placoid lesions at the level of deep retinal layers throughout the posterior pole, while left fundus was unremarkable at that time. Swept source-optical coherence tomography (SS-OCT) showed subretinal fluid together with an appearance of bacillary layer detachment at the right macula. A detailed systemic evaluation was carried out without any positive finding. Two weeks after the initial eye examination, similar multiple placoid lesions were observed in her left eye. Fundus lesions almost totally resolved without any treatment bilaterally 5 weeks after the onset of initial symptoms., Conclusion: To the best of our knowledge, this is the first report of APMPPE-like presentation described after the BNT162b2 COVID-19 vaccination. Previous COVID-19 vaccination should be kept in mind in the differential diagnosis of APMPPE disease spectrum.

Purpose: To report a case of paracentral acute middle maculopathy in an otherwise healthy young, multiparous woman in her second trimester of pregnancy., Methods: A case report., Results: A 38-year-old woman in her twentieth week of pregnancy presented with a four-day history of an acute paracentral scotoma in her left eye. Fundoscopic examination of the left eye was significant for a white-gray lesion inferonasal to the fovea which corresponded with spectral-domain optical coherence tomography hyperreflectivity at the outer plexiform layer-inner nuclear layer junction and optical coherence tomography angiography nonperfusion. A diagnosis of paracentral acute middle maculopathy was made. The patient was sent for a hypercoagulability workup that revealed elevated Factor VIII activity, which has been associated with increased risk of complications during pregnancy., Conclusion: Paracentral acute middle maculopathy in pregnancy may be secondary to an underlying hypercoagulable condition. We recommend systemic evaluation and referral to a high-risk pregnancy specialist if paracentral acute middle maculopathy is diagnosed during pregnancy. In addition, optical coherence tomography angiography in paracentral acute middle maculopathy may demonstrate reperfusion of the affected vessels.

Objective: Previous studies have shown a relationship between retinopathy and cognition including population with and without chronic kidney disease (CKD) but data regarding peritoneal dialysis (PD) are limited. This study aims to investigate the relationship between retinopathy and cognitive impairment in patients undergoing peritoneal dialysis (PD). Methods: In this observational study, we recruited a total of 107 participants undergoing PD, consisting of 48 men and 59 women, ages ranging from 21 to 78 years. The study followed a cross-sectional design. Retinal microvascular characteristics, such as geometric changes in retinal vascular including tortuosity, fractal dimension (FD), and calibers, were assessed. Retinopathy (such as retinal hemorrhage or microaneurysms) was evaluated using digitized photographs. The Modified Mini-Mental State Examination (3MS) was performed to assess global cognitive function. Results: The prevalence rates of retinal hemorrhage, microaneurysms, and retinopathy were 25%, 30%, and 43%, respectively. The mean arteriolar and venular calibers were 63.2 and 78.5 µm, respectively, and the corresponding mean tortuosity was 37.7 ± 3.6 and 37.2 ± 3.0 mm -1 . The mean FD was 1.49. After adjusting for age, sex, education, mean arterial pressure, and Charlson index, a negative association was revealed between retinopathy and 3MS scores (regression coefficient: -3.71, 95% confidence interval: -7.09 to -0.33, p  = 0.03). Conclusions: Retinopathy, a condition common in patients undergoing PD, was associated with global cognitive impairment. These findings highlight retinopathy, can serve as a valuable primary screening tool for assessing the risk of cognitive decline.

Objective: To compare peel-induced maculopathy (PIM) using surgical forceps versus the microvacuum pick (MVP)., Methods: Consecutive eyes undergoing internal limiting membrane (ILM) peeling using either the MVP or forceps were assessed. En face optical coherence tomography (OCT) images at the level of the nerve fiber layer were generated for 6-month postoperative visit. The percentage of the imaged area showing PIM was termed the PIM index. PIM severity was additionally measured using a qualitative PIM severity scale., Results: Seventy-four consecutive eyes underwent ILM peeling with either the MVP (36/74; 49%) or forceps (38/74; 51%). At month-6 postoperatively, the mean PIM index for forceps was 7.7% vs 4.7% for the MVP ( P < 0.001, R 2 = 0.15). At 6 months, 26/38 eyes (68.5%) in the forceps group had either moderate or severe PIM compared to 12/36 eyes (33.3%) in the MVP group ( P = 0.001)., Conclusions: ILM peeling with the MVP resulted in lower PIM severity compared to forceps. [ Ophthalmic Surg Lasers Imaging Retina 2023;54:37-42.] .

Asymmetric dimethyl arginine (ADMA) is a competitive inhibitor of nitric oxide synthetase especially in L-arginine deficiency, which is the case in sickle cell disease (SCD). we aimed to assess the level of ADMA in children with sickle retinopathy and to correlate it to the degree of retinopathy. In this cross-sectional study 40 children with SCD were included, 20 of them with sickle cell retinopathy (SCR) (group I), 20 with normal fundus examination (group II), and another 20 healthy children served as controls (group III). We measured ADMA level by ELISA and performed fundus examination. Seventeen of the 20 children included in group I had Grade I retinopathy (85%), 2 children had Grade II retinopathy (10%), and 1 child had Grade III retinopathy (5%). ADMA was significantly higher in SCD than controls ( P -value <0.001), and it was even higher in patients with SCR compared those without retinopathy ( P -value <0.002), and there was positive linear correlation between ADMA and the grade of retinopathy. The type of retinopathy detect in the studied patients was the nonproliferative type. In conclusion, ADMA is elevated in children with SCD, and its level is even higher in those who develop SCR., Competing Interests: The authors declare no conflict of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder marked by incomplete retinal vascularization associated with exudation, neovascularization, and tractional retinal detachment. FEVR is genetically heterogeneous and is caused by variants in six genes: FZD4, LRP5, NDP, TSPAN12, ZNF408, and CTNNB1. In addition, the phenotypic overlap between FEVR and other disorders has been reported in patients harboring variants in other genes, such as KIF11, ATOH7 , and RCBTB1 ., Purpose: To identify pathogenic variants in Vietnamese pediatric patients diagnosed with FEVR and to investigate the clinical findings in correlation with each causative gene., Methods: A total of 20 probands underwent ocular examinations with fundoscopy (ophthalmoscopy) or fluorescein angiography. Genomic DNA was extracted from the peripheral blood of the probands and their family members. Multiplex ligation-dependent probe amplification (MLPA) was employed to detect copy number variants of FEVR-causing genes. Short variants were screened by whole-exome sequencing (WES) and then validated by Sanger sequencing., Results: Fluorescein angiography showed retinal vascular anomalies in all patients. Other ocular abnormalities commonly found were strabismus, nystagmus, exudation, and retinal detachment. Genetic analysis identified 12 different variants in the FZD4 , NDP , KIF11, and ATOH7 genes among 20 probands. Four variants were novel, including FZD4 c.169G>C, p.(G57R); NDP c.175-3A>G, splicing; KIF11 c.2146C>T, p.(Q716*) and c.2511&#95;2515del, p.(N838Kfs*17). All patients with the KIF11 variant showed signs of microcephaly and intellectual disability. The patient with Norrie syndrome and their family members were found to have a deletion of exon 2 in the NDP gene., Conclusions: This study sheds light on the genetic causes of ocular disorders with the clinical expression of FEVR in Vietnamese patients. WES was applied as a comprehensive tool to identify pathogenic variants in complex diseases, such as FEVR, and the detection rate of pathogenic mutations was up to 60%., (Copyright © 2022 Molecular Vision.)

Objective: To build bridges between anti-α enolase antibody (anti-enolase 1 antibody, anti-ENO1 antibody) and common clinical and laboratory characteristics of systemic lupus erythematosus (SLE) and to analyze the role of anti-ENO1 antibody in the evaluation of SLE disease activity., Methods: The SLE patients with retinopathy and without retinopathy were enrolled in the study, as well as healthy individuals whose gender and age matched with those of the SLE patients. Serum anti-ENO1 antibodies were measured using enzyme-linked immunosorbent assay (ELISA), presenting as intra-group positive rate and arbitrary units (AU) value. Clinical and laboratory data were obtained from medical records., Results: The SLE retinopathy patients represented various fundus abnormalities. Ranked by percentage, the top three retinopathies were retinal hemorrhage (14/32, 43.75%), cotton-wool spots (8/32, 25.00%) and retinal vein occlusion (3/32, 9.38%). Among the 32 SLE retinopathy patients, 13 (40.63%) suffered from two or more fundus abnormalities. The positive rate and AU value of the SLE patients were higher than of the SLE patients without retinopathy (68.75% vs . 46.00%, P =0.043; 16.11%±10.35% vs . 12.06%±6.47%, P =0.045). Besides, the positive rate and AU value of the two SLE groups were both significantly higher than those of the healthy control group ( P < 0.001). Compared with the SLE-without-retinopathy group, the systemic lupus erythematosus disease activity index (SLEDAI)-2000 of the SLE retinopathy patients were significantly higher than those of the SLE patients without retinopathy (17.41±4.25 vs . 9.48±5.35, P < 0.001). Dividing all the SLE patients into an anti-ENO1-positive group and an anti-ENO1-negative group, we found that anti-ENO1-positive was more likely to be correlated to developing fever and positive result of urine occult blood ( P =0.011, P =0.042). Comparing with the patients with negative anti-ENO1 antibodies, the patients with positive anti-ENO1 antibodies had significantly higher erythrocyte sedimentation rate (ESR) [the median (range) was 29.50 (1.52-110.00) mg/L vs . 12.00 (4.00-101.00) mg/L, P =0.001], higher immunoglobulin G (IgG) [the median (range) was 14.30 (4.02-37.80) g/L vs . 10.46 (2.50-25.73) g/L, P =0.000 3], and higher blood platelet count (PLT) [(205.87×10 9 ±67.98×10 9 ) /L vs . (164.57×10 9 ±69.57×10 9 ) /L, P =0.008], as well as higher immunoglobulin A (IgA) [the median (range) was 2.85 (0.07-27.00) g/L vs . 2.05 (0.42-4.36) g/L, P =0.014]., Conclusion: The positive rate and AU value of anti-ENO1 antibody suggested higher SLE disease activity and they were elevated in SLE and SLE retinopathy.

Microvascular occlusions caused by sickle cell disease (SCD) can affect all ocular and orbital structures. Sickle cell retinopathy (SCR) is the most common ophthalmic manifestation of SCD. Fortunately, most individuals with SCR are visually asymptomatic. Vision loss in SCD most commonly occurs as a consequence of proliferative sickle cell retinopathy (PSR), in which pathologic retinal neovascularization occurs. To prevent significant vision loss and blindness, which can occur from complications of PSR, regular retinopathy surveillance screening examinations and consistent follow-up with a retina specialist are recommended. Scatter laser photocoagulation is the current gold-standard treatment to prevent vision threatening progression of PSR. Patients with sickle cell disease should have regular checkups with their dental care provider. Patients should be educated on the importance of proper dental care, a healthy diet, and the need for early intervention if they suspect any dental problems or are having dental pain. If any dental procedures that involve surgery or sedation are planned, it is critical to consult with the hematologist before the procedure is started. Prophylactic antibiotics may have to be prescribed before invasive dental procedures, such as extractions or periodontal surgery but is best determined by discussions between the dental care provider and the hematologist. Osteonecrosis is a highly prevalent skeletal complication of sickle cell disease that affects all genotypes. Risk factors for osteonecrosis include older age, HbSS genotype with concomitant alpha-thalassemia trait, frequent vaso-occlusive episodes, history of acute chest syndrome, elevated body mass index, and low white blood cell counts. Osteonecrosis causes progressive joint damage and associates with chronic pain, frequent acute care visits, and overall poor health-related quality of life. Current consensus guidelines recommend analgesics, physical therapy, and early consideration of joint arthroplasty in sickle cell-related osteonecrosis, although surgery may be deferred until late adolescence after growth plates have fused., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Purpose: To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease., Design: Multi-institutional consecutive retrospective case series., Subjects: New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018., Methods: Detailed ophthalmoscopic examination and FA were recommended for all new patients and performed on every patient who had parental consent. Ophthalmoscopic findings and FA images were graded for severity by 2 masked graders on a 3-point scale: 0 = no disease, 1 = vascular abnormalities without leakage, 2 = leakage or neovascularization, and 3 = retinal detachment. The presence of known CNS disease was documented. Additional cases were obtained from a pediatric retina listserv for examples of phenotypic variation., Main Outcome Measures: The proportion of eyes noted to have disease on ophthalmoscopy compared with FA and the severity of retinal disease in those with and without known CNS disease., Results: Retinal pathology was detected in 18 of 35 patients (51%) by indirect ophthalmoscopy and 26 of 35 patients (74%) by FA (P = 0.048) in a predominantly pediatric population (median age, 9 months). Ten patients (29%) had known CNS disease at the time of the eye examination. A Wilcoxon rank-sum test indicated that the retinal severity scores for patients with CNS disease (median, 2) were significantly higher than the retinal severity scores for patients without CNS disease (median, 1), z = -2.12, P = 0.034., Conclusions: Retinal disease is present in the majority of patients with IP, and ophthalmoscopic examination is less sensitive than FA for detection of disease. There may be a correlation between the severity of retinal and CNS disease., (Copyright © 2022 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

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.] .

A man in his 60s presented with a subacute paracentral scotoma and preserved visual acuity in the left eye. He was found to have a very subtle area of deep retinal whitening at the macula and multiple retinal cholesterol emboli. Optical coherence tomography (OCT) with En face imaging revealed globular paracentral acute middle maculopathy (PAMM). A diagnosis of PAMM associated with branch artery occlusion was made and the patient was immediately transferred to the nearest stroke centre. Investigations revealed severe carotid occlusive disease for which the patient underwent carotid endarterectomy. Paracentral scotomas in patients with little clinical findings on fundus examination should raise the suspicion for PAMM, which is easily identifiable on OCT. Eye care professionals must recognise PAMM as a possible sign of acute retinal arterial ischaemia-an ocular and systemic emergency that requires immediate referral to specialised stroke centres., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

A male patient presented with a sudden visual decline in the right eye (OD). Fundus revealed bilateral vasculitis; OD also showed an occluded inferior retinal vein and a wedge-shaped retinal opacification of the inferior macula and nasal retina. Fluorescein angiography revealed occlusive retinal vasculitis, while optical coherence tomography showed paracentral acute middle maculopathy (PAMM) in the OD. A thorough systemic evaluation revealed hyperhomocysteinemia and a positive Mantoux test. A diagnosis of PAMM with occlusive retinal vasculitis in presumed intraocular tuberculosis and hyperhomocysteinemia was made. Retinal vasculitis improved with oral corticosteroid, intravitreal anti-vascular endothelial growth factor and laser photocoagulation. However, the patient declined antitubercular therapy despite recommendations. This unique report indicates that PAMM may complicate tubercular retinal vasculitis, especially in the presence of systemic hypercoagulable states., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose of Review: Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss., Recent Findings: There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring., Summary: Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: To report a case of vitamin A retinopathy secondary to Billroth II anastomosis triggered after the beginning of dialysis in a patient with a chronic renal failure., Case Report: A 73-year-old male complained of nyctalopia that had started 9 months ago, coinciding with the beginning of dialysis. His medical history is remarkable for hepatic cirrhosis and Billroth II anastomosis 20 years ago. Best-corrected visual acuity (BCVA) was 60 letters in both eyes. Dilated fundus examination showed faint white-yellowish dots. Optical coherence tomography (OCT) illustrated hyperreflective dots and small hyporreflective cavities between the retinal pigment epithelium (RPE) and the ellipsoid zone (EZ). En face OCT showed multiple hyperreflective dots that coincide with white-yellowish dots of the fundus, and multiple hyporreflective defects which correspond to hyporreflective cavities seen in the OCT. Visual field examination showed concentric narrowing of the visual field. A diagnosis of vitamin A deficiency was confirmed and oral vitamin A supplementation was initiated. One month after treatment, the patient reported a subjective improvement of nyctalopia, and BCVA ameliorated up to 80 and 85 letters. Fundus examination, OCT, and en face OCT showed a diminution of the observed lesions. Moreover, visual field improved., Conclusion: Early diagnosis of vitamin A deficiency can prevent irreversible visual sequelae. This highlights the crucial role of ophthalmologists in the prompt detection of this condition. A lifelong monitoring should be needed in patients undergoing biliopancreatic diversion surgery. Furthermore, OCT and en face OCT becomes a main tool in the diagnosis and monitor response to treatment.

Myopic traction maculopathy (MTM), one of the complications of pathologic myopia, is a spectrum of pathological conditions that are attributed to tractional changes in the eye characterized by retinoschisis, lamellar or full thickness macular hole, and foveal retinal detachment. Considering the global public health burden of MTM and pathologic myopia, it is important to understand these sight-threatening complications and their associations. We conducted an evidence-based review of the prevalence and natural history of MTM and associated risk factors. The prevalence of MTM in the general population is low, but is increased among high myopes. MTM is associated with preretinal tractional structures, myopic refractive error and axial elongation, posterior staphyloma, dome-shaped macula, chorioretinal atrophy, and myopic macular degeneration. The clinical course of MTM tends to be stable; however, MTM may progress, resulting in visual acuity deterioration, although spontaneous improvement also occurs. The associations of MTM progression include vitreous traction, location, and extent of MTM, and lamellar macular hole-specific factors. More high-quality population-based studies that assess MTM prevalence and natural history are needed., (Copyright © 2022. Published by Elsevier Inc.)

Introduction: While paramacular retinal atrophy (PRA) is known to be found in 48% of eyes of adults and 42% of eyes of children with homozygous SCD (SS-SCD), the aim of this study is to assess the association between PRA and red blood cell (RBC) deformability, hematological markers and brain imaging abnormalities in SS-SCD., Methods: This study is a subset of DREAM2 , a prospective observational study performed between August 2015 and August 2016. Children (5-17 years) with SS-SCD and no history of large vessel vasculopathy, were included. Ophthalmological characteristics including visual acuity, fundus examination, OCT of central and temporal retina (with several retinal thickness measurements) were explored in relation with RBC deformability (ektacytometry), hematological and biochemical (hemolysis parameters), and neurological (cerebral oxygenation estimated by Near Infrared Spectroscopy, brain magnetic resonance imaging) investigations., Results: 17 children (5 boys; mean age: 13 years) with complete ophthalmological investigations were included in the analysis; 8 exhibited PRA. RBC deformability was found to be significantly lower in children with PRA for measurements made at 1.69 Pa (0.16 a.u ± 0.02 vs 0.21 a.u ± 0.03, p  = 0.02) and above, as well as cerebral oxygenation (59.25% ± 9.9 vs 71.53% ± 4.9, p  = 0.02). A significant positive correlation was found between temporal retinal thickness and hemoglobin level (ρ = 0.65, p  = 0.007), hematocrit (ρ = 0.53, p  = 0.04) and RBC deformability at 3 Pa (ρ = 0.75, p  = 0.005) and above., Conclusions: These results suggest that PRA could be an early marker of systemic severity and cerebral oxygenation in SCD. Whether it could help predicting cerebral vasculopathy requires further investigations.

Radiation retinopathy is an occlusive vascular pathology following radiotherapy, generally targeted on the eye or peri-ocular structures. Despite increasingly precise techniques (stereotactic radiosurgery, proton therapy, etc.), the inclusion of the retina in the radiation field is sometimes unavoidable. This can lead to a severe pathology, which can ultimately cause blindness or even the anatomical loss of the eye when neovascular glaucoma occurs, due to the abnormal proliferation of neovessels. Radiation retinopathy have been described for more than a century, but it has recently seen great advances in both diagnosis and treatment. The advances of efficient and less invasive examinations in our clinical practice, such as OCT-angiography, allows for easier screening and diagnosis at earlier stages. Thus a new approach to the pathology is necessary, first of all through new definitions and classifications including previously undetected minimal forms. Furthermore, the recent appearance of intravitreal therapies by injection of anti-VEGF or dexamethasone implants has drastically changed the visual prognosis of these patients, who were previously treated only by retinal photocoagulation of the ischaemic areas. Recent studies have even shown the effectiveness of these new molecules in preventing the development of radiation retinopathy. This review of the literature provides an update on this disease and details how these recent diagnostic and therapeutic developments may play a role in the management of this complication., (Copyright © 2022 Société française de radiothérapie oncologique (SFRO). Published by Elsevier Masson SAS. All rights reserved.)

Cerebral and retinal ischemia share similar pathogenesis and epidemiology, each carrying both acute and prolonged risk of the other and often co-occurring. The most used preclinical stroke models, the Koizumi and Longa middle cerebral artery occlusion (MCAO) methods, have reported retinal damage with great variability, leaving the disruption of retinal blood supply via MCAO poorly investigated, even providing conflicting assumptions on the origin of the ophthalmic artery in rodents. The aim of our study was to use longitudinal in vivo magnetic resonance assessment of cerebral and retinal vascular perfusion after the ischemic injury to clarify whether and how the Koizumi and Longa methods induce retinal ischemia and how they differ in terms of cerebral and retinal lesion evolution. We provided anatomical evidence of the origin of the ophthalmic artery in mice from the pterygopalatine artery. Following the Koizumi surgery, retinal responses to ischemia overlapped with those in the brain, resulting in permanent damage. In contrast, the Longa method produced only extensive cerebral lesions, with greater tissue loss than in the Koizumi method. Additionally, our data suggests the Koizumi method should be redefined as a model of ischemia with chronic hypoperfusion rather than of ischemia and reperfusion.

Purpose: I 125 Eye Plaque brachytherapy is the standard treatment for medium-sized uveal melanomas (UM). Patients develop radiation toxicities (RTT), including radiation maculopathy (RM), radiation neovascular glaucoma/iris neovascularization (RNGI) and radiation optic neuropathy (RON). We aim to investigate demographics, pretreatment tumor characteristics and posttreatment complications as predictors of RTT., Methods and Materials: An IRB-approved single-institution retrospective chart review was performed from 2011 to 2019 for patients with posterior UM treated with brachytherapy. We collected demographics, pretreatment tumor characteristics and posttreatment complications. Univariate analysis (UVA) and multivariate analysis (MVA) were performed using logistic regression model. Hazard ratios (HR) and corresponding p-values were reported. All tests were two-sided; statistical significance was considered when p<0.05., Results: Two hundred and fifty eight patients were evaluated. Median follow-up was 33.50 months (range 3.02-97.31). 178 patients (69.0%) had RTT. 131 patients (50.8%) developed RM. Fifty-six patients (21.7%) developed RON. Nineteen patients (7.4%) developed RNGI. UVA found shorter distance to fovea (DF) (p = 0.04), posttreatment exudative retinal detachment (PERD) (p = 0.001) and posttreatment vitreous hemorrhage (PVH) (p = 0.001) are associated with RTT. MVA found shorter DF (HR=1.03, p = 0.04), PERD (HR=2.52, p = 0.01) and PVH (HR=3.34, p = 0.006) are associated with RTT. MVA found female sex (HR=1.731, p = 0.031) and tumor height (HR=1.13, p = 0.013) are associated with RM and pretreatment retinal detachment (HR=3.41, p<0.001) is associated with RON., Conclusions: Shorter DF, PERD and PVH are associated with RTT; female sex and tumor height are associated with RM and tumor height is associated with RON. These findings serve as prognostic tools to counsel patients and promote early intervention in management of RTT., (Copyright © 2022 American Brachytherapy Society. Published by Elsevier Inc. All rights reserved.)

Ischemia-reperfusion (IR) injury is implicated in a large array of pathological conditions in the retina. Increasing experimental evidence suggests that programmed necrosis makes a significant contribution to inflammation and retinal damage triggered by IR. Since there are many types of programmed necrosis, it is important to identify those involved in retinal IR to determine the correct treatment. To this end, we used a mouse model of retinal IR and a variety of approaches including RNA-seq data analysis. Our RNA-seq data revealed the rapid development of ischemic pathology in the retina during the first 24 h after reperfusion. We found that at least four types of programmed necrosis including necroptosis, pyroptosis, oxytosis/ferroptosis, and parthanatos are simultaneously involved in retinal IR. Our data suggest that the high activity of the TNF pathway at the early stage of retinal IR leads to early activation of necroptosis while significant activity of other types of programmed necrosis appears later. Our results indicate that TNF, glutamate, and ferrous iron generated by Steap3 may be key players concurrently triggering at least necroptosis, oxytosis/ferroptosis, and parthanatos in ischemic retinal ganglion cells (RGCs). Thus, multiple signaling cascades involved in programmed necrosis should be synchronously targeted for therapeutic purposes to treat retinal IR., (© 2022. The Author(s).)

The causal effects of plasma lipid levels and the risk of retinal vascular occlusion (RVO) have not been clearly identified, especially for high-density lipoprotein-cholesterol (HDL-C) and low-density lipoprotein-cholesterol (LDL-C). Here, we try to identify these causal risk factors using a two-sample Mendelian randomization (MR) analysis. Single nucleotide polymorphisms (SNPs) were chosen as instrumental variables (IVs). We obtained genetic variants associated with lipid exposure at the genome-wide significance ( P <5×10 -8 ) level from a meta-analysis of GWAS from the Global Lipids Genetics Consortium (GLGC) based on 188,577 individuals of mostly European ancestry for MR analyses. Meanwhile, we used lipid GWAS from UK Biobank (UKB) with a sample size of 115,078 individuals as a supplement. We obtained genetic predictors of RVO from a FinnGen biobank study. We conducted both univariable and multivariable MR (MVMR) analyses to identify the causal effects of RVO. Although inverse variance weighted (IVW) was the primary method used for MR analyses, MR-Egger and weighted-median methods were used as supplements to IVW. We determined the heterogeneity of IVs using Cochrane's Q test and I 2 , and used the MR-Egger intercept and MR-PRESSO Global test to detect horizontal pleiotropy. A leave-one-out sensitivity analysis was conducted by removing a single variant from the analysis. Genetically predicted increased HDL-C level was associated with decreased risk of RVO from GLGC [OR=0.806; 95% CI=(0.659, 0.986); P =0.036], which was consistent with UKB results [OR=0.766; 95% CI=(0.635, 0.925); P =0.005]. MVMR analysis for plasma lipids [adjusted OR=0.639; 95% CI=(0.411, 0.992); P =0.046] or diabetes [adjusted OR=0.81; 95% CI=(0.67, 0.979); P =0.029] suggested that low HDL-C may be an independent risk factor for RVO. However, there was no evidence to support a causal association between LDL-C {GLGC [adjusted OR=1.015; 95% CI=(0.408, 2.523); P =0.975], UKB [OR=1.115; 95% CI=(0.884, 1.407); P =0.359]}, total cholesterol {GLGC [adjusted OR=0.904; 95% CI=(0.307, 2.659); P =0.854], UKB [OR=1.047; 95% CI=(0.816, 1.344); P =0.716]} or triglycerides {GLGC [OR=1.103; 95% CI=(0.883, 1.378); P =0.385], UKB [OR=1.003; 95% CI=(0.827, 1.217); P =0.098]} and RVO. Using two-sample MR analysis, our study suggested that dyslipidemia was a risk factor for RVO. Furthermore, our results indicated that a low HDL-C level may be an independent risk factor for RVO, suggesting that controlling HDL-C level may be effective in RVO development., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Zheng, Lin, Jiang, Zhu, Lin, Luo, Tang and Xie.)