[Raxone in the Leber optical neuropathy: Parisian experience]. / Raxone dans la neuropathie optique de Leber : retour d'expérience parisienne.

INTRODUCTION: Leber's Hereditary Optic Neuropathy (LHON) causes a rapid and severe decrease in visual acuity. Raxone® (Idebenone, Santhera) is the only drug to have a European Marketing Authorization for the treatment of this optic neuropathy. It can be proposed in the first months after the onset of this optic neuropathy, according to an international consensus meeting. PATIENTS AND METHODS: Retrospective study of the efficacy of Raxone® on the visual acuity of patients with genetically confirmed LHON who were followed in four Parisian hospitals. The primary endpoint is the best recovery of LogMar visual acuity between baseline and the end of follow-up. The secondary endpoints are the evolution of LogMar visual acuity of the best eye at baseline and change in LogMar visual acuity for each eye considered separately. RESULTS: Seventeen patients, three women and 14 men, mean age 34.2 years, naive to treatment with Raxone® were included in this study. The mean duration of treatment was 11.0±6.6 months. A mitochondrial DNA mutation was found in all patients. Only 2 had the 14484 mutation. A recovery of better LogMar visual acuity was found at the end of the treatment for 4 eyes (23.5 %), and a deterioration was observed for 8 (47.0 %). Only 2 eyes (11.7 %) with the best visual acuity at baseline improved. On the other hand, 17.6 % of the eyes considered separately had an improvement in their LogMar visual acuity at the end of the treatment. CONCLUSION: The results confirm the trend of Raxone® treatment to improve patients' visual acuity. Given the recommendations of a consensus conference, this treatment should be started early after the onset of LHON. It is therefore important to look for this diagnosis in the presence of any hereditary optic neuropathy, in order to be able to initiate this treatment.

[Transient monocular blindness: Vascular causes and differential diagnoses]. / Cécité monoculaire transitoire : causes vasculaires et diagnostics différentiels.

Transient monocular blindness is an acute episode of ischemic origin in which one eye has profound visual loss, followed by full recovery within one hour. Transient monocular blindness most often occurs in the setting of retinal ischemia secondary to carotid embolism, but other mechanisms have been reported, including thrombosis (most often in the setting of giant cell arteritis), hemodynamic disorders (secondary to severe carotid stenosis) or vasospasm. Transient monocular blindness is considered a transient ischemic attack originating in the carotid arteries and must benefit from the same management as transient ischemic attack involving the brain, in order to prevent a subsequent stroke.

Transient monocular blindness: Vascular causes and differential diagnoses.

Transient monocular blindness is an acute episode of ischemic origin in which one eye has profound visual loss, followed by full recovery within one hour. Transient monocular blindness most often occurs in the setting of retinal ischemia secondary to carotid embolism, but other mechanisms have been reported, including thrombosis (most often in the setting of giant cell arteritis), hemodynamic disorders (secondary to severe carotid stenosis), or vasospasm. Transient monocular blindness is considered a transient ischemic attack originating in the carotid arteries, and must be managed the same as transient ischemic attack involving the brain, in order to prevent a subsequent stroke.

[Diplopia: An important symptom in internal medicine!] / Diplopie : un symptôme important en médecine interne !

Diplopia is defined as "double vision" when looking at a single object. Monocular diplopia is related to an ocular disorder and must be differentiated from binocular diplopia which is secondary to ocular misalignment. The examination of the patient with binocular diplopia is often challenging for non-specialists. However, a careful and systematic clinical examination followed by targeted ancillary testing allows the clinician to localize the lesion along the oculomotor pathways. The lesion may involve the brainstem, the ocular motor nerves III, IV or VI, the neuromuscular junction, the extraocular ocular muscles, or the orbit. Causes of binocular diplopia are numerous and often include disorders typically managed by internal medicine such as inflammatory, infectious, neoplastic, endocrine, and metabolic disorders. In addition to treating the underlying disease, it is important not to leave diplopia uncorrected. Temporary occlusion of one eye by applying tape on one lens or patching one eye relieves the diplopia until more specific treatments are offered should the diplopia not fully resolve.

[Migraine with visual aura]. / « Migraine ophtalmique ¼ ou migraine avec aura visuelle.

Migraine with visual aura is marked by recurrent episodes of transient visual disturbance, often followed by headaches. Its pathophysiology has not been fully understood, but visual auras might be related to a self-propagating wave of cortical depolarization called "cortical spreading depression", triggering a trigemino-vascular "storm" ultimately leading to headaches. The most specific visual symptom is the "fortification spectrum" consisting of glimmering jagged lines spreading from the center to the periphery, and leaving a transient scotoma in its wake. Other visual symptoms are numerous, ranging from elementary positive or negative visual phenomena to complex and elaborate hallucinations. The diagnosis can be made according to the International Classification of Headache Disorders revised in 2013. The main goal of the treatment is to relieve the patient's pain quickly and to decrease the frequency of the episodes.

[Examination and clinical signs in infancy]. / Examen et sémiologie générale du nourrisson.

The first 2 years of life are essential to visual development. The ophthalmological examination of a baby is different from that of an adult, in terms of both methodology and clinical signs. The specifics of examination at this age require a rigorous history taking as a first step: personal and family medical history, first sign of the disease and its progression. Cycloplegic refraction and fundus exam are both critical regardless of the reason for consultation. In addition, fundus exam must be performed at the first visit in cases of strabismus, nystagmus, or abnormal visual function, in order to rule out underlying retinoblastoma. Gross inspection of the patient can offer much information: malformations, visual behavior, oculomotor abnormalities. Quantification of vision and refraction is age-specific. It cannot be based solely on visual behavior, it cannot be just an approximation, and it often needs to be repeated. Lastly, examination of the anterior and posterior segments may require specialized equipment, special techniques, and may reveal pathology specific to the infant. Throughout the examination, patience and gentleness help greatly to insure a reliable diagnosis.

[Optical coherence tomography and intracranial hypertension]. / Tomographie par cohérence optique et hypertension intracrânienne.

Optical coherence tomography (OCT) is used primarily in neuro-ophthalmology to measure thinning of the retinal nerve fiber layer (RNFL) in optic neuropathies and to rule out a subtle maculopathy in patients complaining of blurred vision with a "normal" funduscopic appearance. Only a few studies address the role of OCT in papilledema secondary to intracranial hypertension. OCT has been proposed as a diagnostic tool for mild papilledema, assisting the clinician in differentiating papilledema from optic nerve head drusen, and for following the RNFL thickening from papilledema. However, the contribution of OCT in intracranial hypertension management is still unclear with the exception of its role in detecting associated maculopathy. Currently, OCT does not replace visual field testing and fundus examination.

[Efficacy of three intravitreal injections of bevacizumab in the treatment of exudative age-related macular degeneration]. / Étude préliminaire sur l'efficacité de trois injections intravitréennes de bevacizumab dans le traitement de la dégénérescence maculaire liée à l'âge exsudative.

INTRODUCTION: To evaluate intravitreal bevacizumab therapy for choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD). MATERIAL AND METHODS: A retrospective review between June 2006 and May 2008 of patients with CNV secondary to AMD was conducted. All patients were treated with intravitreal injection of bevacizumab (1.25mg) once a month during a 3-month-period. The mean evaluation criteria were the best-corrected visual acuity (BCVA) logMar testing before and one month after the third injection. All eyes underwent an angiography and an optical coherence tomography before injections to define the activity and the type of CNV and then to evaluate the persistence of leakage (macular edema, subretinal fluid, and pigment epithelial detachment) after treatment. Then treatments were left to the investigator's discretion during the following six months. RESULTS: Seventy-one eyes of 66 patients were enrolled. There were 65% occult CNV, 20% classic CNV, and 15% combined. A significant improvement in BCVA was observed, from 0.88±0.57 to 0.77±0.60 (p=0.001), one month after the third injection. At this time, 57.7% of the eyes required a reinjection because of leakage persistence. A concomitant treatment with intravitreal triamcinolone injection and/or photodynamic therapy was necessary for 8% of nonresponder eyes. Six months after initial treatment, a complete resolution of exudative signs was not obtained for 33.8% of eyes. The average number of injections was 3.85±0.96 during the 9-month follow-up. BCVA stability was observed at 4, 6 and 9-month follow-ups (F(71.2)=1.54; p=0.46). Three complications occurred: one endophthalmitis, one retinal tear, and one vitreous hemorrhage secondary to a macular hemorrhage. DISCUSSION: Mean BCVA significantly improved at one month after three consecutive monthly intravitreal injections of bevacizumab. However, most eyes required a reinjection. CONCLUSION: In spite of improvement in BCVA, leakage of the CNV persisted in most eyes after three monthly intravitreal injections of bevacizumab. Then retreatment and sometimes concomitant treatment was necessary to obtain complete resolution of exudative signs and BCVA stability.

[Pseudomonas aeruginosa unilateral endogenous endophthalmitis in a preterm infant: a case report]. / Endophtalmie endogène unilatérale à Pseudomonas aeruginosa chez un prématuré: à propos d'un cas.

Endogenous endophthalmitis is a rare eye disease, affecting vulnerable subjects (such as preterm or older elderly subjects), with reserved visual and sometimes vital prognosis. We present a preterm boy, born at 35 weeks and 2 days gestation, who developed a right eye Pseudomonas aeruginosa endogenous endophthalmitis secondary to a left-foot peripherical catheter-infection-associated bacteremia. He had a first intravenous antibiotic therapy associating third-generation cephalosporin and fluoroquinolone, then Ceftazidime® by intravitreous injection and a subconjunctival injection of betamethasone. Because of the development of vitreoretinal retraction, phacophagia and vitrectomy were performed. We point and discuss the severity of this disease, associated with poor visual and vital prognosis, and the importance of prompt biological diagnosis so that the appropriate intravenous antibiotic therapy is chosen. Treatment is also discussed, especially the interest value of antibiotic intravitreous injection in preterm infants.

[Iris heterochromia in acquired Horner's syndrome]. / Hétérochromie irienne associée à un syndrome de Claude Bernard-Horner acquis.

Horner's syndrome (HS) is related to an interruption of the oculosympathetic nerve pathway. The classic clinical findings associated with this condition are ptosis, miosis, and enophthalmos. Heterochromia is typically described in congenital HS, but it is an uncommon finding in acquired HS. We report a case of post-traumatic HS associated with heterochromia. A literature review indicates that this type of heterochromia may be related to a reduction in the number of iris melanocytes. This mechanism may be the same in the physiological iris color modifications in adulthood.

[Third cranial nerve palsy related to an unruptured aneurysm of the posterior communicating artery]. / Paralysie du nerf oculomoteur commun liée à un anévrisme non rompu de la communicante postérieure.

The posterior communicating artery (PCA) aneurysm is a traditional cause of young subjects' painful ophthalmoplegia. We report the case of a patient presenting a complete, extrinsic and intrinsic, third cranial nerve palsy related to an unruptured aneurysm of the PCA. The diagnosis was made with the angio-CT, and the patient was treated with endovascular treatment for 6 days after the beginning of the cephalalgias. Recovery was complete at 8 weeks. We review the literature on the etiologies of this type of attack, the work-up, and the possible treatments.

[Finnish amyloid polyneuropathy in a French patient]. / Une amylose finlandaise chez une patiente française.

INTRODUCTION: Finnish amyloid variety is a rare familial amiloidosis polyneuropathy essentially observed in Finland. It concerns about six hundred people in the world in which five hundred reside in Finland. OBSERVATION: We report a case of a 58-year-old French woman with a 10-year history of lattice cornea dystrophy. She consulted in January 2004 for impaired swallowing, facial paralysis principally of the right superior territory and symptoms of arthritis which had developed a few months earlier. Observation revealed facial cutis laxa, tongue amyotrophy and some fasciculation. Electroneuromyography showed chronic neurogenic involvement of the facial muscles. Limbs and the sympathetic neuronal system were free of involvement. Pathological examination revealed areas of peri vascular amiloid deposits. Molecular biology confirmed the diagnosis of Finnish amiloidosis: substitution of aspartic acid by tyrosine in the 187 codon in the 9th chromosome (gelsoline gene). This mutation has been previously found in Denmark and the Czech Republic. CONCLUSION: Finnish amiloidosis is a familial polyneuropathy characterized by an association of cornea lattice dystrophy, cutis laxa and a chronic neurogenic involvement of the cranial nerves. Two mutations are known. Life expectancy is not affected, but quality of life is altered.