Relationship between paramacular thinning, cerebral vasculopathy, and hematological risk factors in sickle cell disease

PurposeTo identify risk factors for sickle cell maculopathy due to hematological parameters (especially anemia and hemolysis) or cerebral vasculopathy.MethodsThis retrospective study was conducted at a Referral Center. The follow-up included optical coherent tomography/optical coherent tomography angiography, neuro-radiological imaging, and a hematological assessment (hemoglobin, hemoglobin S level, reticulocytes, mean corpuscular volume, bilirubin, and lactate dehydrogenase).ResultsHundred and thirty-two sickle cell patients were included. Maculopathy was observed in 127 eyes of SS patients and 10 eyes of SC patients (p < 0.001), unrelated to peripheral retinopathy. Cerebral vasculopathy was more frequent in SS patients (p < 0.001) and was also associated with the presence of maculopathy (p = 0.049), and it was related to peripheral retinopathy (p < 0.001). All biological parameters significantly differed according to the genotype (p < 0.001) but not according to the presence of cerebral vasculopathy or maculopathy. In the multivariate analysis, reticulocytes and bilirubin were associated with the presence of cerebral vasculopathy and maculopathy.ConclusionThe data obtained were consistent with the role of anemia or hemolysis markers in cerebral vasculopathy and macular involvement. As a trend of hemolysis appears to be a risk factor for these complications, this validates the use of preventive plasmapheresis in these patients

Central Crosstalk for Somatic Tinnitus: Abnormal Vergence Eye Movements

Frequent oulomotricity problems with orthoptic testing were reported in patients with tinnitus. This study examines with objective recordings vergence eye movements in patients with somatic tinnitus patients with ability to modify their subjective tinnitus percept by various movements, such as jaw, neck, eye movements or skin pressure.Vergence eye movements were recorded with the Eyelink II video system in 15 (23–63 years) control adults and 19 (36–62 years) subjects with somatic tinnitus.1) Accuracy of divergence but not of convergence was lower in subjects with somatic tinnitus than in control subjects. 2) Vergence duration was longer and peak velocity was lower in subjects with somatic tinnitus than in control subjects. 3) The number of embedded saccades and the amplitude of saccades coinciding with the peak velocity of vergence were higher for tinnitus subjects. Yet, saccades did not increase peak velocity of vergence for tinnitus subjects, but they did so for controls. 4) In contrast, there was no significant difference of vergence latency between these two groups.The results suggest dysfunction of vergence areas involving cortical-brainstem-cerebellar circuits. We hypothesize that central auditory dysfunction related to tinnitus percept could trigger mild cerebellar-brainstem dysfunction or that tinnitus and vergence dysfunction could both be manifestations of mild cortical-brainstem-cerebellar syndrome reflecting abnormal cross-modality interactions between vergence eye movements and auditory signals

Hereditary optic neuropathies in childhood

Knowledge of the genetic mechanisms underlying hereditary optic neuropathies has increased over the past two decades. Identified genes are mainly related to forms that begin after adolescence. However, hereditary optic neuropathies can begin from early childhood and may then exhibit specific clinical features. We report a series of patients with early-onset hereditary optic neuropathies to determine their clinical and genetic characteristics

Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy

Cardiac abnormalities have been described in patients with Leber hereditary optic neuropathy (LHON). Some are life-threatening because of the risk of ventricular fibrillation and sudden death. The purpose of our study was to better characterize the cardiac abnormalities in a large patient cohort with LHON. A retrospective study of the electrocardiogram (EKG) results performed on all patients with LHON evaluated at The Reference Center for Rare Diseases in Ophthalmology, Paris, France, from January 2015 to June 2017. Our series included 73 patients with LHON (9 women/64 men) with a mean age of 30.29 ± 14.48 years. Although only 1 patient had cardiac complaints, cardiac abnormalities were detected in 17 patients (23.2%): 9 patients had an excitation syndrome, 6 had atrioventricular block, and 2 had repolarization abnormalities. All patients harbored mtDNA point mutations 11778 or 3460. Cardiac abnormalities occur frequently enough in patients with LHON that a baseline EKG is warranted. However, further studies are needed to determine the true cardiac risk associated with specific LHON mtDNA mutations

Le syndrome de Sturge-Weber (Atteinte ophtalmologique et place de la trabéculectomie non perforante dans le traitement du glaucome associé)

Introduction: Le syndrome de Sturge-Weber est une phacomatose associant variablement un hémangiome facial, un hémangiome méningé et une atteinte ophtalmologique (hémangiome choroïdien et/ou glaucome). Les objectifs de ce travail sont de détailler les caractéristiques ophtalmologiques des patients atteints de ce syndrome ayant été examinés dans le Service d'Ophtalmologie de l'Hôpital Necker, et d'évaluer les résultats de la chirurgie filtrante pour traiter le glaucome associé à ce syndrome. Matériels et méthodes: Nous avons analysé rétrospectivement les dossiers de 33 patients ayant consulté entre 1986 et 2003 et relevé les résultats des examens ophtalmologiques de ces patients, afin d'évaluer la prévalence des différents signes observés. Un groupe de 12 patients a été opéré pour glaucome entre 1994 et 2003 par chirurgie filtrante (trabéculectomie perforante ou trabéculectomie non perforante). Nous avons évalué les résultats de cette chirurgie sur la baisse de pression intraoculaire, le contrôle du glaucome sans traitement médicamenteux complémentaire et les complications chirurgicales. Résultats: Les deux atteintes ophtalmologiques les plus fréquemment retrouvées étaient le glaucome (21 patients soit 64% des cas) et l'hémangiome choroïdien (5 patients soit 15% des cas). Les autres atteintes étaient plus rares. Dix trabéculectomies non perforantes et 9 trabéculectomies perforantes ont été réalisées. Trois de ces dernières ont été compliquées de décollement choroïdien alors que les trabéculectomies non perforantes n'ont pas été compliquées. Quelque soit la technique employée, une diminution de la pression intraoculaire a été observée dans le mois suivant l'intervention, puis à un délai variable il a été nécessaire d'adjoindre un traitement médicamenteux antiglaucomateux. Environ deux ans après la chirurgie, la plupart des patients avaient reçu un traitement complémentaire. Conclusion: Les caractéristiques de l'atteinte ophtalmologique du syndrome de Sturge-Weber que nous avons observées semblent conformes aux données de la littérature. Nous attribuons la forte prévalence du glaucome dans notre série à un biais de recrutement ; la prévalence de l'hémangiome choroïdien est probablement sous-estimée en raison de la difficulté de son diagnostic. La chirurgie filtrante est une procédure qui semble efficace pour le traitement du glaucome associé à ce syndrome, mais pendant un temps limité, au bout duquel un traitement complémentaire est nécessaire. La trabéculectomie non perforante semble moins génératrice de complications que la trabéculectomie perforante.PARIS7-Villemin (751102101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Persisting reversed clock syndrome

Abstract. Background: The reversed clock phenomenon results in the transposition of objects from one side to another. Its major manifestation consists in the reversal of clock numbers in clock-drawing test. It could be due to a stroke disrupting attentional cerebral network. This phenomenon usually regresses in a few days. Objective: To report a case of reversed clock phenomenon with disorders of space representation that did not regress spontaneously. Design: Case report. Patient: A 67 year-old woman was referred due to headaches associated with gait disorder, visual field deficit and disturbance of space representation. Results: Magnetic resonance imaging demonstrates two right cerebral infarcts mainly localized in the parieto-occipital region. A week after her stoke, clinical testing confirms a reversed clock phenomenon. The patient placed the hands of a clock in the opposite direction of what was specified. She got lost at home locating rooms in directions opposite to their real ones. Rehabilitation sessions partially improved these manifestations. Conclusion: Although it usually improves in a few days, reversed clock phenomenon can persist longer. Rehabilitation sessions based on localization exercises may be helpful in such situations

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy

International audienc

How the Brain Obeys Hering’s Law: A TMS Study of the Posterior Parietal Cortex

International audienc

Benefit of bi-ocular visual stimulation for postural control in children with strabismus.

Vision is important for postural control as is shown by the Romberg quotient (RQ): with eyes closed, postural instability increases relative to eyes open (RQ = 2). Yet while fixating at far distance, postural stability is similar with eyes open and eyes closed (RQ = 1). Postural stability can be better with both eyes viewing than one eye, but such effect is not consistent among healthy subjects. The first goal of the study is to test the RQ as a function of distance for children with convergent versus divergent strabismus. The second goal is to test whether vision from two eyes relative to vision from one eye provides better postural stability. Thirteen children with divergent strabismus and eleven with convergent strabismus participated in this study. Posturtography was done with the Techno concept device. Experiment 1, four conditions: fixation at 40 cm and at 200 cm both with eyes open and eyes covered (evaluation of RQ). Experiment 2, six conditions: fixation at 40 cm and at 200 cm, with both eyes viewing or under monocular vision (dominant and non-dominant eye). For convergent strabismus, the groups mean value of RQ was 1.3 at near and 0.94 at far distance; for divergent, it was 1.06 at near and 1.68 at far. For all children, the surface of body sway was significantly smaller under both eyes viewing than monocular viewing (either eye). Increased RQ value at near for convergent and at far for divergent strabismus is attributed to the influence of the default strabismus angle and to better use of ocular motor signals. Vision with the two eyes improves postural control for both viewing distances and for both types of strabismus. Such benefit can be due to complementary mechanisms: larger visual field, better quality of fixation and vergence angle due to the use of visual inputs from both eyes