[Pediatric myasthenia with ocular involvement]. / Myasthénie chez l'enfant avec atteinte oculaire.

PURPOSE: Myasthenia is a rare disease in children, with an estimated incidence of 1 to 5 per million children. However, the potential severity of its consequences and the existence of specific treatments require prompt diagnosis by pediatric ophthalmologists. METHODS: Retrospective review of patient records. Patients were identified from a rare disease database. Patients under the age of 18 years with confirmed diagnosis of myasthenia and ocular symptoms seen in a specialized clinic between 2005 and 2021 were included. RESULTS: Twenty-six (16 girls) with confirmed myasthenia and ocular symptoms were included. Ten patients had definite autoimmune myasthenia gravis (AIMG); 6 had suspected AIMG with negative antibody testing. Six patients had definite congenital myasthenic syndrome (CMS); 4 had suspected CMS with no evidence of mutation. Mean age at diagnosis of myasthenia was 5 years-3 years and 5 months for CMS and 6 years and 3 months for AIMG. Male to female (M:F) ratio was 6/10 for autoimmune myasthenia gravis and 4/6 for CMS. Ptosis was present in all cases; strabismus in 21 patients (68%). The clinical forms of myasthenia were ocular myasthenia in 12 patients (10 AIMG and 2 CMS), generalized in 12 patients (7 CMS and 5 AIMG) and secondary generalization of ocular myasthenia in 2 patients (2 AIMG). DISCUSSION: These results are based on only 26 cases, which can be explained by the rarity of this diagnosis in children. As in adults, the first signs are often ophthalmologic - ptosis alone or associated with strabismus. Diagnosis is difficult because of the absence of clinical signs, laboratory tests or electrophysiological signs with high sensitivity. Thus, the work-up may remain completely negative in secondarily proven forms. In addition, electroneuromyograms and oculomotor recordings in small children are more difficult to perform than in adults. For these reasons, the clinical examination is essential. In the case of strong suspicion, all additional medical examinations are carried out in a day unit, in order to reach a positive diagnosis of myasthenia. The so-called "congenital" forms, which are genetic, are proportionately higher than in adults, and diagnosis and treatment are often more difficult than in the classic autoimmune forms. CONCLUSION: Myasthenia can affect children from a very young age and can present as ptosis, initially isolated or associated with strabismus. Diagnosis and treatment may be difficult and should be organized in specialized centers.

COVID-19 pandemic and impact of universal face mask wear on ocular surface health and risk of infection.

Universal mask wear is an effective public health intervention to reduce SARS-Cov-2 transmission, especially in enclosed public spaces and healthcare environments. Concerns have been raised about possible transmission of the SARS-Cov-2 through ocular secretions, leading to enhanced protective measures during ophthalmic procedures. However, there is some evidence for air jets from the upper edge of the surgical mask to the ocular surface, especially when the mask is not well fit. Prolonged airflow towards the ocular surface during expiration may alter tear-film stability, leading to hyperosmolarity and ocular surface inflammation. This also raises the question of whether the ocular surface is contaminated with oral flora from airflow directed toward the eyes, thus increasing the risk of ocular infection. Herein we review the impact of patient face mask wear on the ocular surface, eyelids and risk of ocular infection, particularly during ocular surgery. There is some evidence for increased incidence of dry eye or eyelid disease during periods of mandatory face mask wear. While high daily exposure is consistent with a direct association, this should be mitigated by various cofounding factors which could also affect the ocular health during the COVID-19 pandemic. An increased risk of post-intravitreal injection endophthalmitis, possibly due to face mask wear by the patient, including culture-positive endophthalmitis, has been reported in one retrospective study. Several measures have been shown to prevent or limit the risk of developing dry eye disease or exacerbation, eyelid cyst, and ocular infection during intravitreal injections.

Arterial Spin-Labeling in the Assessment of Pediatric Nontraumatic Orbital Lesions.

Benign and malignant pediatric orbital lesions can sometimes have overlapping features on conventional MR imaging sequences. MR imaging of 27 children was retrospectively reviewed to describe the signal of some common pediatric extraocular orbital lesions on arterial spin-labeling and to evaluate whether this sequence helps to discriminate malignant from benign masses, with or without ADC value measurements. Qualitative and quantitative assessments of arterial spin-labeling CBF and ADC were performed. All lesions were classified into 3 arterial spin-labeling perfusion patterns: homogeneous hypoperfusion (pattern 1, n = 15; benign lesions), heterogeneous hyperperfusion (pattern 2, n = 9; cellulitis, histiocytosis, malignant tumors), and homogeneous intense hyperperfusion (pattern 3, n = 3; infantile hemangiomas). Arterial spin-labeling can be a valuable tool to improve the diagnostic confidence of some orbital lesions, including infantile hemangioma. An algorithm is proposed.

Orbital exenteration reconstruction using a superficial temporalis muscle flap: The "Carpaccio flap", an innovative approach.

INTRODUCTION: Malignant orbital diseases may lead surgeons to practice an orbital exenteration associated with chemotherapy and/or radiotherapy to ensure curative treatment. That radical procedure makes physicians consider reconstructive filling in order to allow prothesis wearing and reduce esthetic and social after-effects. We first describe the clinical case of a 6-year-old patient who presented an orbital rhabdomyosarcoma and underwent an orbital exenteration with immediate reconstruction by a superficial temporal pedicled on the middle temporalis muscle flap. TECHNICAL NOTE: Through that case-report, we propose an original temporal flap to repair ipsilateral midface defects which may reduce donor site side effects and allow furthers corrections. DISCUSSION: In pediatrics cases, our Carpaccio flap was an available regional tool to rehabilitate an irradiated orbital socket with an appropriate bulking and vascularization effect after subtotal exenteration. Furthermore, we prescribe that flap as a posterior orbital filling, when eyelid and conjunctiva are spared, to prepare orbital prosthesis implementation. A mild sunken temporal fossa appears with our procedure but by preserving the deep layer of the temporalis muscle, autologous reconstruction such as lipofilling are permitted in post-radiotherapy condition to enhance esthetic sequelae.

Paediatric ocular rosacea: diagnosis and management with an eyelid-warming device and topical azithromycin 1.5.

BACKGROUND: Ocular rosacea is a chronic inflammatory disorder with periods of exacerbation and remission, often underdiagnosed in children. When diagnosed, its management is challenging because of a lack of effective long-term treatment options. OBJECTIVE: To report our experience in cases of pediatric ocular rosacea treated with moist heat therapy and topical azithromycin 1.5%. METHODS: The medical records of six children diagnosed with ocular rosacea based on a careful medical history and slit-lamp examination of the eyelids and ocular surface were reviewed. Previous treatments were discontinued, and children/parents were instructed to use the eyelid-warming device for 1 or 2 sessions of 10minutes each day, followed by eyelid massage and cleansing, in combination with azithromycin 1.5% eye drops. RESULTS: The diagnosis of ocular rosacea in these children was delayed for several months or years from the first identifiable clinical sign or symptom. All the children presented with corneal sequelae and decreased vision. Ocular manifestations included meibomian gland disease, recurrent chalazia, and phlyctenular keratoconjunctivitis. Cutaneous signs were not always associated with the condition. Ocular rosacea was usually resistant to initial treatments with antibiotics and topical corticosteroids. Treatment with the eyelid-warming device in combination with azithromycin 1.5% led to a rapid improvement in the clinical signs and was well tolerated by all patients. CONCLUSIONS: Childhood ocular rosacea is potentially sight threatening. Practitioners should consider this condition in order to minimise diagnostic delay and subsequent complications. Combined therapy of eyelid hygiene (including an eyelid warming device) and azithromycin 1.5% eye drops was effective in treating ocular rosacea in children.

[Development of a learning game for ophthalmic technicians: "Orthoptist Simulator"]. / Développement d'un jeu sérieux pour la formation des orthoptistes : « orthoptist simulator ¼.

INTRODUCTION: E-learning is a pedagogic approach that relies on the use of electronic media and devices as tools to improve access to training, communication and interaction, facilitating the adoption of knowledge, skills and/or behaviors. Learning games offer a learning and training environment using entertaining elements from video games in a real-life scenario. The objective of this work is the conception of a learning game for training ophthalmic technician students. METHODS: Design of a learning game, in collaboration with iLumens and the Dowino® corporation, allowing the performance of an orthoptic evaluation in a child without ocular pathology. RESULTS: We developed the "Orthoptist Simulator" a learning game that faithfully reproduces an orthoptic box with necessary tools to carry out an orthoptic evaluation with ocular motility examination. The game offers learning, training and self-evaluation modes. It allows the student to evaluate a young patient, take a history and perform the 17 most frequently used orthoptic tests. The student thus creates a report of the results of these tests to be transmitted to the ophthalmologist who requested the workup. CONCLUSIONS: To our knowledge, we have set up the first learning game for the training of future ophthalmic technicians, which is an innovative educational tool and complementary to traditional training. This game could also be used to train ophthalmology residents in ocular motility examination. This new instrument will require future evaluation to determine its real impact on training.

[Assessment of ophthalmological surgical training in Île-de-France: Results of a survey on 89 residents]. / Formation chirurgicale en ophtalmologie en Île-de-France : résultats d'une enquête sur 89 internes.

OBJECTIVE: This study aims to evaluate surgical training in ophthalmology through feedback from residents. MATERIALS AND METHODS: An anonymous questionnaire was created, including 20 items which assessed the number of complete or partial surgical procedures performed during a semester, self-assessment of surgical skills, use of surgical simulators, an overall rating of the surgical training received and some suggestions to improve surgical training. It was sent by email to all residents in training in Île-de-France (DES Île-de-France and Inter-CHU), France. RESULTS: From October 23 to November 7, 2021, 89/137 residents responded to the questionnaire (65%). Since the beginning of their residency, ninety percent of the residents received training using simulators. Over 90% performed all of the technical steps of a "standard" cataract surgery at least once during the semester, and 60% 10 times or more. The least performed technical steps or procedures also received the lowest self-assessment: management of expulsive hemorrhage, open-globe or lacrimal laceration wound suturing, capsular tension ring injection, and intraocular lens explantation. Residents gave an overall average rating of 6.6/10 to their training and suggested some feedback on videos of resident surgeries (67%) and theoretical courses dealing with surgical techniques (61%). DISCUSSION: The increasing use of simulators should improve surgical training. Residents express the need for training regarding surgical complications and emergencies as well as improvement of their technical skills via improved feedback. CONCLUSION: Surgical teaching appears suitable for learning cataract surgery but seems less effective for the management of emergencies and intraoperative complications.

[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician]. / Protocole national de diagnostic et de soins (PNDS) de l'aniridie congénitale : synthèse pour le médecin traitant.

Congenital aniridia is a rare panocular disease defined by a national diagnostic and care protocol (PNDS) validated by the HAS. In most cases, it is due to an abnormality in the PAX6 gene, located at 11p13. Aniridia is a potentially blinding autosomal dominant disease with high penetrance. The prevalence varies from 1/40,000 births to 1/96,000 births. Approximately one third of cases are sporadic. Ocular involvement includes complete or partial absence of iris tissue, corneal opacification with neovascularization, glaucoma, cataract, foveal hypoplasia, optic disc hypoplasia and ptosis. These ocular disorders coexist to varying degrees and progress with age. Congenital aniridia manifests in the first months of life as nystagmus, visual impairment and photophobia. A syndromic form such as WAGR syndrome, WAGRO syndrome (due to the risk of renal Wilms tumor) or Gillespie syndrome (cerebellar ataxia) must be ruled out. Systemic associations may include diabetes, due to expression of the PAX6 gene in the pancreas, as well as other extraocular manifestations. Initial assessment is best carried out in a referral center specialized in rare ophthalmologic diseases, with annual follow-up. The management of progressive ocular involvement must be both proactive and responsive, with medical and surgical management. Visual impairment and photophobia result in disability, leading to difficulties in mobility, movement, communication, learning, fine motor skills, and autonomy, with consequences in personal, school, professional, socio-cultural and athletic life. Medico-socio-educational care involves a multidisciplinary team. Disability rehabilitation must be implemented to prevent and limit situations of handicap in activities of daily living, relying on the Commission for the Rights and Autonomy of People with Disabilities (CDAPH) within the Departmental House of People with Disabilities (MDPH). The general practitioner coordinates multidisciplinary medical and paramedical care.

[Screening and prevention of toxic optic neuropathies due to anti-mycobacterium therapies: proposal of recommendations]. / Dépistage et prévention des neuropathies optiques toxiques aux anti-mycobactériens : proposition de recommandations.

While treatment of pulmonary infections by Mycobacterium tuberculosis is currently only rarely the cause of iatrogenic complications, treatment of atypical mycobacterial infections often requires prolonged treatment duration, which can lead to toxic optic neuropathies. This review summarizes the indications for such prolonged treatment and risk factors for toxic optic neuropathies when using ethambutol, isoniazid and/or linezolid and proposes customized screening recommendations.

Development and co-construction of a therapeutic patient education program for albinism.

BACKGROUND: Long-term and ongoing support in accordance with the changing needs of patients and their families is one of the main components of patient care, including therapeutic patient education (TPE). OBJECTIVE: To co-construct a TPE program for albinism with all those involved in the management of albinism patients. METHODS: Eight steps have been defined for the co-construction process: 1) identify all the relevant experts and invite them to participate in the construction of a TPE program to improve care for and support of patients with albinism, 2) review and analyse all publications regarding TPE for albinism, 3) conduct semi-structured interviews with the patients' parents, 4) conduct brainstorming meetings with the participating experts for an exchange of experience and expertise, 5) elaborate the program's concrete content with the experts, 6) draw up a TPE skills checklist, 7) create TPE educational tools to facilitate learning, 8) review and summarize each step of the co-construction protocol. RESULTS: Co-construction of a TPE program for children, adolescents, and young adults with albinism, and their parents. CONCLUSION: Strengths and advantages of the co-construction process include: i) highlighting of the experiential knowledge mentioned in the repository, ii) multiplicity of points of view and perspectives, iii) rapid improvement in TPE training both for the association and the patients, iv) awareness of the shift caregivers' position with regards to TPE and recognition of the polysemy of their discourse. The TPE program for albinism has been authorized since 2018.

Management of albinism: French guidelines for diagnosis and care.

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease-causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non-syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management.

Preloaded Monoka (Lacrijet) and congenital nasolacrimal duct obstruction: Initial results.

STUDY OBJECTIVE: To study the performance of a pre-loaded Monoka stent in the management of congenital nasolacrimal duct obstruction (CNLDO). STUDY DESIGN: Non-randomized study of consecutive cases. MATERIALS AND METHODS: A preloaded classic Monoka silicone stent contained entirely inside its introducer (Lacrijet) was used to treat a consecutive series of subjects with CNLDO over an 11-month period (May 2019-March 2020). Only subjects with chronic symptomatic CNLDO were included. Subjects with intermittent tearing, canalicular pathology, trisomy 21, facial cleft, or history of lacrimal surgery were excluded. Intraoperative findings were recorded, including the degree and location of the nasolacrimal obstruction, successful metal to metal contact with the probe, any difficulties encountered by the Lacrijet device itself, procedure duration, tolerability of the fixation punctal plug, and finally, inspection of the stent after withdrawal of the inserter. Functional success was defined as disappearance of all symptoms of epiphora. RESULTS: A total of 45 preloaded Monoka Lacrijet stents (Lcj) were placed consecutively in 38 children. The mean age was 27.9 months (12-78 months). The mean procedural duration was 2.8minutes (range: 1-10min). The overall success with disappearance of all symptoms of epiphora was 88.8% (40/45). Surgery in cases of simple mucosal stenosis was successful in 92.2% (35/38) of cases, with a mean follow-up time of 7.9 months (range: 1 to 12 months). The duration of stent intubation was for this group was 32 days (range: 1-103). The surgical outcomes for the other 7 cases with more complex intraoperative findings are summarized in the publication. All withdrawn probes were intact. CONCLUSIONS: The Lacrijet stent system is a simple and reliable pushed intubation device for CNLDO in appropriately selected cases where bony stenosis of the canal is minimal.

[Implementation of a new gene therapy in ophthalmology: Regulatory and organizational issues]. / Mise en place d'une nouvelle thérapie génique en ophtalmologie : aspects réglementaires et organisationnels.

Voretigene neparvovec (VN) is the first gene therapy in ophthalmology for patients with RPE65-mediated hereditary retinal dystrophy. It has recently obtained European market approval, which is subject to strict regulatory and organizational conditions for its use. Here, we analyze the main studies supporting the authorization of this new therapy and describe the necessary steps to take at a hospital level for optimal administration to patients following current regulations.

[Prevalence of visual impairment in school-age children: Data analysis from PlanVue® pilot project]. / Dépistage des troubles visuels à l'âge scolaire : les données du projet pilote PlanVue®.

PURPOSE: To assess the prevalence of visual disturbances among school-aged children in prioritized education zones in France. METHODS: The PlanVue® pilot project was designed to detect and manage visual disturbances in school-aged children in the prioritized education areas of the city of Nanterre, France. During this pilot study, a cohort of 515 children aged 4 to 13 years underwent a school vision screening between January and March 2019, consisting of an overall evaluation of the child's visual behavior, measurement of uncorrected visual acuity in each eye, objective refraction with a photoscreener and strabismus screening. If the examination was abnormal as determined by impaired vision or an algorithm based on the abnormalities found, the children were referred to an ophthalmologist. RESULTS: Decreased visual acuity was found in 20% of school-aged children. Out of the 515 children screened, 22% were referred to an ophthalmologist. Among these children, 13% were diagnosed with amblyopia, 73% with spherical ametropia, 57% with astigmatism and 2% with strabismus. Of the entire population screened, 12% of the children needed optical correction but had not received glasses. CONCLUSION: This study confirms the high prevalence of uncorrected refractive errors among school-age children. A screening program carried out in a school environment by paramedical professionals might make it possible to considerably reduce the rate of uncorrected visual disorders and their consequences.

[Chiasmatic syndrome]. / Syndrome chiasmatique.

The optic chiasm is an essential anatomical structure in neuro-ophthalmology. The systematization of the visual pathways results from the arrangement of the retinal ganglion cell fibers. It explains the signs of chiasmal syndrome. A good knowledge of the anatomy permits to correlate visual field defects with imaging results. It is now possible to map the organization of the ganglion cell fibers within the chiasm. Their hemidecussation allows for stereoscopic vision in humans. The causes of chiasmal syndrome are multiple, but tumors and compressive causes predominate. The proximity of the pituitary region to the chiasm accounts for the frequency of chiasmal syndrome, which involves ophthalmologists not only through dysfunction of the visual pathway, which may be the presenting sign, but also through possible complications throughout the course of the disease. This review aims to synthesize the embryology, anatomy and principles of work-up for chiasmal syndrome as well as its many possible causes.

Effects of visual disorders on the academic achievement of French secondary school students.

PURPOSE: This study aimed to determine the relationship between the presence of visual problems and academic success, in a population of students aged 15-22 years. METHODS: This was a prospective, nonrandomized study involving clinical testing and structured interviews. At recruitment (September 2012 to April 2013), participants were asked to answer a questionnaire consisting of 28 questions aiming to identify symptoms commonly related to visual disorders. Each question was graded from 0 (no symptoms) to 2 (frequent). This questionnaire was followed by a visual screening including binocular function. If a problem was identified, participants were referred to an ophthalmologist for a comprehensive examination and an orthoptic work-up (September 2012 to June 2013). Participants returned in September 2013 for a follow-up. The findings were analyzed regarding academic grades and the scores obtained during national examinations in June 2014. RESULTS: Many participants in this study had visual disorders and the presence of these disorders was not associated with the expression of visual discomfort: 24.3% of participants expressed visual discomfort while 86.5% had visual disorders. More than half of the participants had hyperopia often associated with binocular vision problems, which they were not aware of because both their distance and near visual acuity were good. CONCLUSION: Although the results of this study cannot be extrapolated to all young people aged 15-22 years, the study confirms the link between visual problems and academic achievement while emphasizing the high prevalence of such problems in the population studied.