[Vision screening for children: Recommended practices from AFSOP]. / Le dépistage visuel chez l'enfant : les recommandations de l'Association Francophone de Strabologie et d'Ophtalmologie Pédiatrique (AFSOP).

In light of the international literature, a workgroup of experts from the AFSOP met in February 2019 to formulate updated recommendations for visual screening in children. An ophthalmologic examination during the first month of life is recommended for children at risk of developing infantile organic amblyopia. An ophthalmologic examination including cycloplegic refraction between 12 and 15 months of age is recommended for children at risk of developing functional amblyopia. At any age, a prompt ophthalmologic examination is recommended for a child suspected of functional or organic ocular pathology. In children without risk factors or warning signs, a systematic orthoptic screening examination is recommended during the third year of life, including a monocular visual acuity test, a cover-test and a refraction by photoscreener. The child is referred to the ophthalmologist only in the case of an abnormal screening result, according to the following criteria: visual acuity <5/10, or >1 difference between eyes, abnormal cover test, photodetection refraction values <-3D or>+2.5D for the sphere,>1.5D for astigmatism and>1D for anisometropia. Finally, we review normal childhood refractive errors as a function of age as well as the correct use of photo screening devices.

Ibrutinib monotherapy for relapse or refractory primary CNS lymphoma and primary vitreoretinal lymphoma: Final analysis of the phase II 'proof-of-concept' iLOC study by the Lymphoma study association (LYSA) and the French oculo-cerebral lymphoma (LOC) network.

BACKGROUND: Primary central nervous system lymphomas (PCNSLs) are mainly diffuse large B-cell lymphomas (DLBCLs) of the non-germinal centre B-cell subtype, with unmet medical needs. This study aimed to evaluate the efficacy and toxicity of ibrutinib in DLBCL-PCNSL PATIENTS AND METHODS: This prospective, multicentre, phase II study involved patients with relapse or refractory(R/R) DLBCL-PCNSL or primary vitreoretinal lymphoma. The treatment consisted of ibrutinib (560 mg/day) until disease progression or unacceptable toxicity occurred. The primary outcome was the disease control (DC) rate after two months of treatment (P0 < 10%; P1 > 30%). RESULTS: Fifty-two patients were recruited. Forty-four patients were evaluable for response. After 2 months of treatment, the DC was 70% in evaluable patients and 62% in the intent-to-treat analysis, including 10 complete responses (19%), 17 partial responses (33%) and 5 stable diseases (10%). With a median follow-up of 25.7 months (range, 0.7-30.5), the median progression-free and overall survivals were 4.8 months (95% confidence interval [CI]; 2.8-12.7) and 19.2 months (95% CI; 7.2-NR), respectively. Thirteen patients received ibrutinib for more than 12 months. Two patients experienced pulmonary aspergillosis with a favourable (n = 1) or fatal outcome (n = 1). Ibrutinib was detectable in the cerebrospinal fluid (CSF). The clinical response to ibrutinib seemed independent of the gene mutations in the BCR pathway. CONCLUSION: Ibrutinib showed clinical activity in the brain, the CSF and the intraocular compartment and was tolerated in R/R PCNSL. The addition of ibrutinib to standard methotrexate-base induction chemotherapy will be further evaluated in the first-line treatment. CLINICAL TRIAL NUMBER: NCT02542514.

A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE.

PURPOSE: To investigate the prevalence and location of optic nerve head drusen and their potential association with other PXE-related ophthalmic abnormalities. MATERIALS AND METHODS: Thirty-eight of the 155 patients (57 male and 98 female aged 49±17 years) included in this retrospective study had optic nerve head drusen. All of the patients underwent a comprehensive ophthalmic examination, including color images using red-free, blue and red filters, autofluorescence imaging and late-phase ICG frames. Comparative analysis of both groups (optic nerve head drusen or not) was conducted using R statistical software. RESULTS: The prevalence of optic nerve head drusen in our cohort was 24.5%. In this study, no evidence of a significant link between optic nerve head drusen and other fundus abnormalities was detected. They were more commonly located in the nasal sector than in the temporal sector of the optic disc (P<0.001). They were more frequently situated superonasally than inferonasally (P<0.004), superotemporally (P<0.001) or inferotemporally (P<0.03). No central visual field defect was observed in OND+ patients who were unaffected by macular disorders. DISCUSSION: We hypothesized this predominantly nasal primary location may result from greater sensitivity in the nasal optic nerve fibers which follow a much more angular path once they arrive in the scleral canal, accounting for accumulation of axoplasmic debris. CONCLUSION: In PXE, optic nerve head drusen are mostly located in the superonasal quadrant, causing progressive optic nerve invasion but probably no central visual field defects.

[Traumatic homonymous hemianopsia and ganglion cell complex changes: Report of 3 cases]. / Hémianopsie latérale homonyme post-traumatique et atteinte des cellules ganglionnaires : à propos de 3 cas.

Homonymous lateral hemianopia follows an attack on the contralateral retrochiasmal visual pathways. In three patients with post-traumatic homonymous hemianopia, optical coherence tomographic (OCT) study of the ganglion cell layer thickness showed hemiretinal thinning contralateral to the visual field defect. This involvement could be explained by trans-synaptic degeneration of the pre-geniculate visual pathways, whose cell nuclei correspond to ganglion cells, which synapse with the damaged retrogeniculate visual pathways.

[Study of fundus examination by age in 158 pseudoxanthoma elasticum patients]. / Étude du fond d'œil en fonction de l'âge dans le pseudoxanthome élastique chez 158 patients.

PURPOSE: To study the prevalence of fundus anomalies among patients with pseudoxanthoma elasticum as a function of their age. MATERIAL AND METHODS: All patients have had a complete ophthalmologic examination in multidisciplinary consultation for PXE in a national reference center. RESULTS: Hundred and fifty-eight patients (60 men and 98 women aged from 10 to 90 years old, mean 45±17 years) were included in a cross-sectional retrospective study. All fundus pictures were retrospectively reviewed over 9 years. Peau d'orange (55.6 %), was the first fundus feature observed in younger patients and disappeared with age. Angioid streaks (100 %), appeared during the second decade of life: at first hypofluorescent and then hyperfluorescent after 40 years old. Crystalline bodies (54.1 %), optic nerve head drusen (19 %) and peripheral pigmentation (39.9 %) were found in the various age groups. Macular atrophy (33.5 %) could have resulted from subretinal neovascularization (40.8 %), pattern dystrophies (7.9 %) or subretinal fibrosis (5.3 %). The onset of neovascularization appeared during the fourth decade. DISCUSSION: Progressive centrifugal calcification of Bruch's membrane is the cause of the many fundus features observed in PXE patients. CONCLUSION: Knowledge of the natural history of PXE can help the clinician explain and reassure patients about the evolving risks of ophthalmological involvement, particularly the fact that neovascular complications arise from the fourth decade.

[Topical anesthesia without the use of an anesthesiologist in adult outpatient cataract surgery: Assessment of selection criteria on consultation, report of 248 cases]. / L'anesthésie topique sans recours à un médecin anesthésiste dans la chirurgie de la cataracte ambulatoire de l'adulte : évaluation des critères de sélection en consultation, à propos de 248 cas.

INTRODUCTION: This work aims to evaluate selection criteria used during the cataract surgery scheduling visit, to choose whether or not there will be an anesthesiologist available during the surgery, depending upon the patient's comorbidities. MATERIALS AND METHODS: Retrospective study performed in 2016 in Angers university medical center. Two groups were established on the cataract surgery scheduling visit, based on patients' comorbidities and vital signs (blood pressure, heart rate). One group of patients were operated with topical anesthesia, with the anesthesia team, the other one only with blood pressure and heart rate monitoring, with, if needed, a written protocol of sedation or blood pressure control, which could be administrated by a circulating nurse. Those two groups were compared in terms of postoperative complications, intraoperative pain and postoperative visual acuity. RESULTS: 248 surgeries were performed on 185 individual patients, with 108 under stand-alone topical anesthesia, and 135 under anesthetist-monitored topical anesthesia. No significant difference was demonstrated between the two groups, in terms of complications, intraoperative pain or visual acuity outcomes. DISCUSSION: This study allows us to assess selection criteria used in our hospital to determine which patients can undergo cataract surgery under topical anesthesia without the anesthesia team. This procedure lowers organizational constraints while still insuring patient safety. Some patients still probably need an anesthesiologist present, such as those with an unstable disease or risk of agitation, in order to optimize the medications administered during surgery.

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients. METHODS: In a retrospective observational study, ophthalmic outcomes were compared between two groups of age-matched patients with genetically and pathologically confirmed PXE: one group with FP versus one without FP. All included patients underwent thorough clinical examination. Further investigation (optical coherence tomography (OCT), Cirrhus, Zeiss Germany, and/or fluorescein/indocyanin green angiography) was performed in cases of suspected choroidal neovascularization (CNV). RESULTS: The study included 13 PXE patients with FP (group 1: 8 men and 5 women, aged 45-65 years) and 47 age-matched PXE patients without FP (group 2: 19 men and 28 women). Mean patient follow-up was 63 months (range 0-132 months). Subretinal fibrosis (SRF) was more frequently associated with FP (9/26 eyes, 34.6%), compared to absence of FP (4/94, 4.2%) (p = 0.0001). Independently of SRF, FP can evolve into deep macular atrophy and/or CNV with dramatic consequences for central vision. CONCLUSIONS: Fundus pulverulentus may occur in PXE and is most commonly associated with subretinal fibrosis in the posterior pole and visual loss by macular atrophy even in the absence of CNV.

[Neuro-ophthalmic emergencies]. / Urgences en neuro-ophtalmologie.

Neuro-ophthalmic emergencies can cause life-threatening or sight-threatening complications. Various conditions may have acute neuro-ophthalmic manifestations, including inflammatory or ischemic processes, as well as tumoral, aneurysmal compression or metabolic and systemic diseases. Diplopia related to a partial third nerve palsy with pupillary involvement may reveal an intracranial aneurysm. Abnormalities of conjugate gaze may reveal an inflammatory or ischemic lesion, most often of the brainstem. An intracranial tumor may also manifest itself as a single or multiple oculomotor palsy, or causing various visual field defects, due to optic nerve, chiasm or retrochiasmal involvement. Arteritic anterior ischemic optic neuropathy may be the first manifestation of giant cell arteritis, prompting rapid treatment with steroids to prevent contralateral involvement. A (painful) Horner syndrome may be the presenting sign of carotid dissection, or it may be a sign of a central or thoracic sympathetic lesion. Beyond these classical emergencies, this non-exhaustive review will also present more rare clinical situations, describing novel algorithms for quick recognition and prompt intervention in acute neuro-ophthalmology.

Mitochondrial dysfunction affecting visual pathways.

Mitochondrial dysfunction leads to cellular energetic impairment, which may affect the visual pathways, from the retina to retrochiasmal structures. The most common mitochondrial optic neuropathies include Leber's hereditary optic neuropathy and autosomal dominant optic atrophy, but the optic nerve can be affected in other syndromic conditions, such as Wolfram syndrome and Friedreich's ataxia. These disorders may result from mutations in either the mitochondrial DNA or in the nuclear genes encoding mitochondrial proteins. Despite the inconstant genotype-phenotype correlations, a clinical classification of mitochondrial disorders may be made on the basis of distinct neuro-ophthalmic presentations such as optic neuropathy, pigmentary retinopathy and retrochiasmal visual loss. Although no curative treatments are available at present, recent advances throw new light on the pathophysiology of mitochondrial disorders. Current research raises hopes for novel treatment of hereditary optic neuropathies, particularly through the use of new drugs and mitochondrial gene therapy.

[Systemic conditions associated with central and branch retinal artery occlusions]. / Apports du bilan étiologique des occlusions de l'artère centrale de la rétine et de ses branches et conséquences thérapeutiques.

INTRODUCTION: Retinal artery occlusions (RAO) are severe conditions threatening vision, affecting the subsequent mortality of these patients. PATIENTS AND METHODS: We retrospectively reviewed the work-up performed in all patients diagnosed with retinal artery occlusions evaluated in two university hospitals in France (Tours and Angers). RESULTS: A total of 131 patients (131 eyes) with RAO were included, with a mean age of 69.5years and male predominance (64 %). Central retinal artery occlusion (CRAO) resulted in poor initial visual acuity (90 % less than count fingers), whereas those with branch retinal artery occlusion (BRAO) had better visual acuity (63.6 % better than 20/40). Systemic arterial hypertension (HTN) was the most common associated risk factor. Carotid stenosis was found in 50 % of cases, leading to endarterectomy in nine patients (6.9 %), while an underlying cardiac cause was implicated in 14 % of cases. Giant cell arteritis was diagnosed in five patients (3.8 %). DISCUSSION: Work-up of RAO may detect treatable cardiovascular and systemic conditions, allowing prevention of further ocular recurrence or stroke. CONCLUSION: Etiologic work-up of retinal arterial occlusion can diagnose potentially treatable underlying systemic conditions, such as giant cell arteritis, cardiac conditions and extracranial cerebrovascular disease. Giant cell arteritis has to be ruled out at the acute phase, while the role and timing of semi-urgent testing (supra-aortic Doppler echography, echocardiography, electrocardiography, lab work-up) or delayed testing (transesophageal echocardiography, brain imaging) have yet to be determined.

[Ocular and neuro-ophthalmic manifestations of sarcoidosis: retrospective study of 30 cases]. / Sarcoïdose oculaire et neuro-ophtalmologique: étude rétrospective sur 30 cas.

INTRODUCTION: The purpose of this study was to describe the diagnostic strategy and therapeutic approach when sarcoidosis of the visual pathways is suspected, by way of a descriptive study of sarcoidosis patients in the ophthalmology services in Tours, Rennes and Angers. PATIENTS AND METHODS: A multicenter, retrospective chart review was performed for 30 patients diagnosed with sarcoidosis and followed at the university hospitals of Tours, Rennes and Angers between January 1997 and August 2011. The diagnosis of sarcoidosis was based on a combination of clinical and ancillary tests, including pathologic confirmation and/or hyperlymphocytosis with a CD4/CD8 ratio greater than 5 on bronchoalveolar lavage. RESULTS: We identified 30 patients with ocular and/or neuro-ophthalmic sarcoidosis (25 female [83%], five male [17%], median age 48 years (36-87). Histologic confirmation of epithelioid granuloma was obtained in 24 (80%) of the 30 included patients. Sarcoid uveitis was present in 83% of patients; neurosarcoidosis was found in 37% of patients. Additional complaints at presentation included dyspnea (31%), arthralgia (41%), myalgia (24%) and paresthesia (27%). Bilateral ocular involvement was found in 89% of cases. In 83% of patients, there was an active anterior uveitis on slit lamp examination at initial presentation. Funduscopic abnormalities included vitritis in 67%, snowbanking in 13%, snowballs in 27% and disc edema in 30%. Eight patients (27%) had retinal vasculitis and nine patients (30%) were diagnosed with multifocal choroiditis on angiography. An elevated angiotensin-converting enzyme was present in 13 (52%) of 25 patients tested, with an average of 71 (range 36-241). Evidence of sarcoidosis was present on chest CT in 22 (79%) of 28 patients. Neuroimaging abnormalities on brain MRI were found in eight of ten tested patients. The 10 IU tuberculin skin test was negative in all tested patients (12). Median lymphocytosis in the bronchoalveolar lavage fluid (BALF) was 0.3 (0.2-0.7) in the 15 tested patients. BALF CD4/CD8 ratio was positive in all tested patients (12). Oral corticosteroids were initiated at 1mg/kg per day and then tapered in 20 (67%) of 30 patients. Median duration of steroid treatment was 12 months (5-127), resulting in rapid improvement in 84% of cases. However, nearly half of patients experienced a recurrence of the disease. CONCLUSION: Positive diagnosis of sarcoidosis requires a careful history and clinical examination, ancillary testing, and collaboration among several medical specialties. Normal angiotensin-converting enzyme levels do not rule out the diagnosis, since in our series, they were normal in almost half the cases. The tests with highest sensitivity included: a negative tuberculin skin test (100%), an elevated CD4/CD8 ratio in the BALF (100%), radiographic evidence of sarcoidosis on chest CT (79%) and brain MRI (80%). Other factors contributing to the diagnosis were: female gender (83%), age over 40 (67%), arthralgia (41%), asthenia (50%), vitritis (67%) and multifocal choroiditis (30%). In our study, treatment with corticosteroids resulted in significant improvement in over 80% of patients.

[Optic nerve schwannoma]. / Schwannome du nerf optique.

OBJECTIVE: To report the occurrence of an orbital schwannoma probably arising from the optic nerve sheath. PATIENT AND METHOD: Clinical case report. RESULTS: A 65-year-old patient presented with a painless, progressive right proptosis over five years. Magnetic resonance imaging revealed an intraconal mass, radiographically consistent with a cavernous hemangioma. Surgical resection was performed and pathology disclosed a schwannoma affecting the optic nerve. The optic nerve, which does not contain Schwann cells, is exceptionally rarely affected by Schwannomas, which may arise from a few sympathetic nerve fibers or from a few ectopic cells, not normally present within the optic nerve. CONCLUSION: The radiologic appearance of the very rare optic nerve Schwannoma may be confused with a cavernous hemangioma, a more common tumor in this location.

[Alzheimer's disease and visual impairment]. / Les troubles visuels au cours de la maladie d'Alzheimer.

Alzheimer disease is the most prevalent cause of cognitive decline in older adults. The typical presentation of Alzheimer disease is memory dysfunction, however, presentations with impairment in other domains may occur. Visual symptoms may be the first manifestation of Alzheimer disease. The purpose of this article is to review the spectrum of visual system disturbances found in Alzheimer disease.

[Optic disc drusen or true papilledema?]. / Drusen de la tête du nerf optique ou oedème papillaire?

INTRODUCTION: Bilateral optic disc drusen can mimic papilledema, raising the question of intracranial hypertension and sometimes prompting unnecessary or invasive procedures. STATE OF THE ART AND PERSPECTIVES: Optic disc drusen are benign calcified masses, often visible within the optic nerve head. However, their clinical diagnosis can be more difficult at earlier stages of life, when they are buried within the optic nerve. Visual field loss can occur in patients with longstanding optic disc drusen. CONCLUSION: Ophthalmoscopy and B-scan ocular ultrasonography allow appropriate diagnosis of bilateral optic disc drusen mimicking papilledema. On rare occasions, optic disc drusen can be associated with ischemic complications, the other causes of drusen-related visual loss being exceptionally rare.