Search

Purpose: To report the effect of internal limiting membrane (ILM) peeling prior to Voretigen Neparvovec-ryzl (VN) subretinal injection on focal chorioretinal atrophy development in patients presenting with RPE65-mediated Leber congenital amaurosis (LCA). Design: Retrospective case series. Methods: Three patients who underwent bilateral subretinal VN injection for RPE65-mediated LCA were followed up for 18–24 months. ILM peeling was performed unilaterally in patients 1 and 2 and bilaterally in patient 3. Chorioretinal atrophy was identified on fundus biomicroscopy, non-mydriatic retinography and/or ultrawide field fundus imaging. Best corrected visual acuity (BCVA), spectral-domain optical coherence tomography (SD-OCT), visual fields, full-field stimulus threshold (FST) and visual functioning questionnaire score (NEI-VFQ-25) were reported. Outcome measures were changes in BCVA, visual fields, FST, NEI-VFQ-25, and chorioretinal atrophy location. Results: Chorioretinal atrophy at the injection site exclusively developed in eyes which did not undergo prior ILM peeling. In patient 3, bilateral pre-operative nummular chorioretinal alterations progressed toward epithelial atrophic patches in the mid and extreme retinal periphery 18 months after VN injection. BCVA and visual fields improved bilaterally. NEI_VFQ 25 remained stable in patient 1 and improved in patient 2 and 3. FST test improved bilaterally in patient 3. Conclusions: ILM peeling prior to VN injection seems to be a smoother and safer technique to administer VN treatment and may prevent secondary focal atrophy development at the injection site. However, another type of more extended chorioretinal atrophy might exist and could be related to LCA evolution or to incompletely understood adverse effect of VN product.

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in the disease, frequently occurring before the onset of neurological manifestations. While early treatment with chenodeoxycholic acid can prevent the onset of neurological impairment, poor awareness of CTX accounts for a markedly delayed diagnosis. The objective of this study was to evaluate the utility of plasma cholestanol analysis at the moment of cataract diagnosis and before the onset of neurological impairment in CTX. Methods Multicenter prospective cohort study of patients with juvenile-onset unexplained bilateral cataracts recruited from seven French ophthalmology departments. Plasma cholestanol analysis was performed at diagnosis from January 2018 to January 2020. CYP27A1 genetic testing was performed at the ophthalmologist’s discretion. Cholestanol levels were compared with those of a similar population of patients without cataracts (control cohort). Results 30 patients were finally recruited, with a mean age at cataract diagnosis of 7.1 years (± 4.8 SD, range 1–19 years). One patient had a very high cholestanol level (68 μmol/L, reference

Abstract Background Amblyopia is a major public health concern. Its screening and management require reliable methods of visual acuity assessment. New technologies offer nowadays many tests available on different app stores for smartphone or tablet but most of them often lack of scientific validation for a medical use. The aim of our study was to attempt validating a tablet-based near visual acuity test adapted to the pediatric population: the eMOVA test (electronic Measurement Of Visual Acuity) by comparing visual acuity measured with more conventional test. Methods A cohort of 100 children aged 3 to 8 attending the ophthalmic-pediatric for eye examination between September 2016 and June 2017 were included in the study. Near visual acuity was assessed on participants using both the eMOVA test and a Standard test (Rossano-Weiss test). Duration of each test, its comprehension, its acceptability and the attention of the child during the test was also investigated. Results The eMOVA test overestimated near visual acuity by 0.06 logMAR. This difference, statistically significant, was not clinically relevant. The duration of the eMOVA test was longer than the reference test, but less discomfort and preferred by children and their parents compared to standard tests. Conclusion The eMOVA test appears as a reliable test to assess near visual acuity in children. By its portability and efficiency, this application proved to be a relevant tool to be used for children eye examination in daily routine at the hospital.

Purpose: To report two cases of persistent macular edema caused by the exudation of diabetic telangiectatic capillaries (TelCaps), which have been successfully treated with photodynamic therapy (PDT). Methods: Review of data from two patients suffering from persistent macular edema caused by parafoveolar TelCaps. In both cases, conventional laser was impossible because TelCaps were to close from foveal center. Results: The use of focal PDT on perifoveolar TelCaps permitted to reduce persistent macular edema and to avoid inefficient intravitreal anti-vascular epithelial growth factor or steroid injections. In both cases, visual acuity was fully restored four to six months after PDT. Central macular thickness was also normalized in the first case and significantly reduced in the second case. In both cases, visual gain was sustained throughout the whole follow-up period (2 and 1 year, respectively). Conclusion: Photodynamic therapy can be helpful to treat diabetic macular edema caused by TelCaps nonresponding to approved intravitreal therapy or for which conventional laser is contraindicated. [ABSTRACT FROM AUTHOR]

AIM: To validate a visual acuity (VA) test application on touchpad in the screening of pediatric population by comparing VA results obtained with conventional tests. METHODS: A cohort of 101 patients, 44 girls and 57 boys with a median of 6.5 years old (3-10 years of age), presenting for eye examinations in Ophthalmology Department (Strasbourg, France) between November 1st, 2018, and February 1st, 2019 were enrolled. Monocular and binocular VA testing was performed on the subject using both a standard test and the touchpad application (Monoyer, “E” or, Pigassou depending of children’s capacities). Patients were excluded if they were physically or mentally unable to use the touchpad. The duration of each tests, the painfulness, the comprehension, the attention of children during the test and test’s preferences were also evaluated. RESULTS: There was a good linear correlation and intra-class correlation coefficient [ICC=0.50 (0.34, 0.64) for binocular acuity, 0.74 (0.64, 0.82) for right eyes and 0.525 (0.37, 0.66) for left eye]. The standard errors of measurement were very low (0.08, 0.05, 0.08 for binocular VA, right eyes VA and left eyes VA, respectively). There was no difference between two tests for right eye (P=0.126), left eye (P=0.098) and binocular acuity (P=0.085). Non inferiority was proved for all binocular [-0.06 (-0.09, -0.03)], right eye [-0.04 (-0.07, -0.01)] and left eye [-0.06 (-0.09, -0.02)] VA. The sensitivity and specificity, which correspond to the ability for our app to detect amblyopia, were 92% and 80% respectively. CONCLUSION: Our touchpad application represents an efficient and valid test of VA in children with a high specificity to detect visual impairment.

Abstract The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome identified a unique deep intronic homozygous variant in the PSMC3 gene, encoding the proteasome ATPase subunit Rpt5, which lead to the transcription of a cryptic exon. The proteasome content and activity in patient's fibroblasts was however unaffected. Nevertheless, patient's cells exhibited impaired protein homeostasis characterized by accumulation of ubiquitinated proteins suggesting severe proteotoxic stress. Indeed, the TCF11/Nrf1 transcriptional pathway allowing proteasome recovery after proteasome inhibition is permanently activated in the patient's fibroblasts. Upon chemical proteasome inhibition, this pathway was however impaired in patient's cells, which were unable to compensate for proteotoxic stress although a higher proteasome content and activity. Zebrafish modelling for knockout in PSMC3 remarkably reproduced the human phenotype with inner ear development anomalies as well as cataracts, suggesting that Rpt5 plays a major role in inner ear, lens and central nervous system development.

Dome-shaped macula (DSM) is an entity recently described as a convex anterior protrusion of the macular area within a posterior myopic staphyloma. Specific complications were associated with DSM, like serous retinal detachment (SRD). We describe a woman presenting with a decreased vision at 20/50. SD-OCT scans were performed, showing a macular bulge. SRD was present and an epiretinal membrane could also be observed. Fluorescein angiography and indocyanin green angiography did not show any leakage nor choroidal neovascularization. Epiretinal membrane peeling was performed, and 3 months after surgery, SRD completely disappeared. However, SRD reappeared 1 year after surgery and enlarged within 2 years following surgery. In conclusion, two mechanisms could be considered for physiopathology of SRD: first, the epiretinal membrane may have exerted traction on the macular retina, second, vitreous body might constitute a tank for cytokines and/or other factors, triggering subretinal fluid accumulation, leading to SRD.

Copyright of Canadian Journal of Ophthalmology is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Dominique Bremond-Gignac,1,2 Riadh Messaoud,3 Sihem Lazreg,4 Claude Speeg-Schatz,5 Didier Renault,6 Frédéric Chiambaretta7,8 On behalf of the Azithromycin Pediatric Study Group 1Ophthalmology Department, Centre St Victor, University Hospital of Amiens, Picardie Jules Verne University, Amiens, France; 2CNRS FR3636, Paris V University, France; 3Ophthalmology Department, Tahar Sfar University Hospital, Mahdia, Tunisia; 4Dar El Beida, Blida, Algeria; 5Ophthalmology Department, University Hospital of Strasbourg, Strasbourg, France; 6Laboratoires THÉA, Clermont-Ferrand, France; 7Ophthalmology Department, University Hospital of Clermont-Ferrand, Gabriel Montpied Hospital, Clermont-Ferrand, France; 8EA 7281 R2D2, Auvergne University, Clermont-Ferrand, France Purpose: To compare the efficacy of azithromycin 1.5% versus tobramycin 0.3% eyedrops on clinical ocular signs and symptoms of bacterial conjunctivitis in children and to assess the parents’ satisfaction regarding the dosing regimen.Patients and methods: An international, multicenter, randomized, investigator-masked, controlled clinical trial conducted in children (1 day to 18 years old) with bulbar conjunctival hyperemia and purulent discharge. Azithromycin 1.5% was administered as 1 drop twice daily for 3 days, and tobramycin 0.3% as 1 drop every 2 hours for 2 days, then 4 times daily for 5 days.Results: A total of 286 patients (mean age: 3.2 years) were enrolled. In children with bacteriologically positive cultures (N=203), azithromycin produced a significantly greater improvement in conjunctival discharge (P

INTRODUCTION: le strabisme est défini comme un syndrome à double composante : motrice et sensorielle. Le but de ce travail est de décrire les aspects épidémiologiques et cliniques du strabisme chez l'enfant congolais de 0 à 15 ans dans la ville de Lubumbashi.

Les auteurs rapportent un cas d'un syndrome de Goldenhar non décris dans la littérature chez un nourrisson de 3 mois, de sexe féminin présentant une atrophie cérébrale diffuse. Cette observation permet de décrire cette malformation rare et d'attirer l'attention de l'opinion scientifique à mettre en marche des études poussées afin de comprendre la survenue de cette pathologie.

In a cross sectional study, 19 French and 23 Colombian cases of confirmed active ocular toxoplasmosis (OT) were evaluated. The objective was to compare clinical, parasitological and immunological responses and relate them to the infecting strains. A complete ocular examination was performed in each patient. The infecting strain was characterized by genotyping when intraocular Toxoplasma DNA was detectable, as well as by peptide-specific serotyping for each patient. To characterize the immune response, we assessed Toxoplasma protein recognition patterns by intraocular antibodies and the intraocular profile of cytokines, chemokines and growth factors. Significant differences were found for size of active lesions, unilateral macular involvement, unilateral visual impairment, vitreous inflammation, synechiae, and vasculitis, with higher values observed throughout for Colombian patients. Multilocus PCR-DNA sequence genotyping was only successful in three Colombian patients revealing one type I and two atypical strains. The Colombian OT patients possessed heterogeneous atypical serotypes whereas the French were uniformly reactive to type II strain peptides. The protein patterns recognized by intraocular antibodies and the cytokine patterns were strikingly different between the two populations. Intraocular IFN-γ and IL-17 expression was lower, while higher levels of IL-13 and IL-6 were detected in aqueous humor of Colombian patients. Our results are consistent with the hypothesis that South American strains may cause more severe OT due to an inhibition of the protective effect of IFN-γ.

Myositis has been reported as a rare manifestation of Lyme disease, and the Lyme disease spirochetes can be an important consideration in the differential diagnosis of unusual cases of myositis, especially in patients who live in or travel to endemic areas. We report the case of two patients who presented with focal orbital myositis which are rare localization for Lyme disease. Myositis were confirmed by magnetic resonance imaging. Diagnosis criteria for Borrelia burgdorferi (B. burgdorferi) infection was supported by (i) medical history (tick bite in an endemic area), (ii) systemic clinical findings (Erythema migrans, neurological manifestation or arthritis), (iii) positive Lyme serology and/or the detection of B. burgdorferi DNA by polymerase chain reaction, as well as (iv) exclusion of other infectious and inflammatory causes. The current cases are reviewed in the context of findings from previous myositis descriptions.

Background and Objectives: Pediatric strabismus surgery leads to undesirable intraoperative and postoperative side effects that include pain, postoperative nausea and vomiting (PONV), and oculocardiac reflex (OCR). We hypothesized that subtenon anesthesia performed before the start of surgery and combined with general intravenous anesthesia would reduce these adverse effects.Methods: Forty children (2.5 to 6 years of age, ASA status I to II) were prospectively randomized to receive either subtenon bupivacaine 0.5% or a saline injection before the beginning of surgery in a double-blind manner. Perioperative analgesic requirements, pain scores (CHEOPS scale), hemodynamics, and incidence of OCR and PONV were compared.Results: Postoperative pain scores were lower (P < .001) at removal of the laryngeal mask and 30 minutes later in the bupivacaine group. Intraoperative and postoperative analgesic requirements were significantly reduced in this group (P < .01). The incidence of OCR and PONV were also significantly decreased (P < .01). Intraoperative values of blood pressure were significantly higher in the saline group at 20 minutes (P < .02).Conclusion: We conclude that preoperative subtenon bupivacaine 0.5% compared with a saline injection contributed to reduction of perioperative pain and undesirable side effects in pediatric strabismus surgery performed under general anesthesia. [ABSTRACT FROM AUTHOR]