Approaches to the epidemiology of NOHL in the region of Madrid: Survey of neuro-ophthalmologists.

OBJECTIVE: To estimate the epidemiology of Leber's optic neuropathy (NOHL) in the Region of Madrid. MATERIAL AND METHODS: The neuro-ophthalmologists who work at public hospitals of the CAM were interviewed by telephone. They were asked about the number of patients with NOHL that they had diagnosed during the time that they had been responsible for the neuro-ophthalmology department of that public hospital. The time worked and the population attended by the hospital were used to calculate the number of inhabitant-years in follow-up by each center during the corresponding period. The basic information of each case (date of birth, mutation, date of visual loss) was registered to avoid duplications. RESULTS: Our work estimates a global incidence of 2.34 cases for 10,000,000 inhabitants-year and a prevalence estimated from incidence of one case for each 106.682 inhabitants. This prevalence was very similar in all the studied areas and considerably lower than that reported by other studies. CONCLUSION: This work constitutes the first approach to the epidemiology of this disease in Spain. The prevalence of LHON in the region of Madrid, is probably lower than that reported in the literature in other regions. The prevalence and the incidence were homogeneously low in the 26 studied areas.

Mitogen-activated protein kinase inhibitor-associated retinopathy (MEKAR). A clinical case.

Mitogen-activated protein kinase kinase (MEK) inhibitors have significantly improved the prognosis of various types of cancer such as metastatic melanoma. However, their use is usually associated with ocular side effects. A retinopathy associated with these agents (MEKAR) has been described, consisting of the development of neurosensory detachments, generally bilateral and multiple, similar to those that appear in the central serous chorioretinopathy (CSC). Generally, optical coherence tomography allows us to differentiate the two conditions. We present the case of a 55-year-old woman in treatment with a MEK inhibitor, who developed bilateral neurosensory detachments and blurred vision, which resolved with the discontinuance of the treatment due to tumour progression.

Evaluation of the insertion distance of the medial rectus in consecutive exotropia by means of intraoperative measure and optical coherence tomography.

PURPOSE: To assess the agreement between the measurements of the distance from the medial rectus muscles insertion to the limbus measured by intra-operative spectral-domain optical coherence tomography (SD-OCT) in consecutive exotropia (cXT). METHODS: An analysis was performed on total of 14 medial rectus (MR) muscles of 14 patients who underwent surgery for the treatment of cXT. The limbus-insertion distance of the MR muscles was measured using preoperative SD-OCT and intraoperatively using a calliper. The intraclass correlation coefficient (ICC) and Bland Altman plots were calculated to determine the agreement between the two methods, as well as the correlation. RESULTS: Mean age was 36.3 ± 16.0 years (range 13-60), with 60% being women. Mean preoperative deviation was 38.7 ± 16.9 prismatic dioptres (PD) (range 16-65), being +1.3 ± 6.3 PD (range -12 to +10 PD) after surgery. Intraoperatively the MR insertion was found at 8.7 ± 2.1 mm (range 5.5-12.0) and by OCT at 7.7 ± 1.2 mm (range 5.3-10.0). The ICC showed a moderate to good agreement (0.659; 95% confidence interval: 0.157-0.885; p < 0.001), with a correlation of R = 0.792 (p = 0.011). A better agreement was observed in those MR that were less retro-inserted. CONCLUSIONS: SD-OCT is able to measure the insertion to the limbus distance of the medial rectus muscles that have been previously operated on, showing moderate to good agreement with intraoperative measurements. However, the agreement was poor in muscles with a large retro-insertion.

A variant Nishida's technique for surgical correction of monocular elevation deficiency syndrome.

Monocular elevation deficiency (MED) is characterized by unilateral limitation of supraductions, similar in adduction and abduction, in addition to hypotropia and ptosis. We describe a case of a 62-year-old woman with long-standing left ptosis who was initially operated with a frontal suspension technique. On subsequent examinations, a MED of that eye was found. The passive duction test was positive, so the inferior rectus was recessed. In addition, a modified Nishida technique was performed, consisting of the scleral anchorage of the superior edges of the rectus, medial and lateral, 12mm from the corneal limbus in the superonasal and superotemporal quadrants, respectively. Postoperatively, the left eye presented a minimal hypotropia of 3 PD. This modified technnique used here on the horizontal rectus muscles, turned out to be effective and safe for the correction of MED.

Purtscher-like retinopathy after a stent implant for the treatment of carotid aneurysm.

Purtscher retinopathy is an occlusive microangiopathy associated with traumatic causes and usually causes visual impairment. For non-traumatic origins, it is called Purtscher-like retinopathy (PLR). A 26-year-old man reported loss of vision in his left eye after the implantation of a telescoping stent for the treatment of an intracranial carotid aneurysm. The fundus of the eye showed numerous cotton-wool spots and superficial haemorrhages. The spontaneous evolution was favourable, with almost complete resolution, except for an inferior residual scotoma. The appearance of PLR may be associated with the implantation of an endovascular stent for the treatment of intracranial aneurysms.

Orbital apex syndrome secondary to herpes zoster ophthalmicus.

Herpes zoster ophthalmicus usually presents with ocular manifestations, but neurological complications are much more infrequent. An 84-year-old woman with herpes zoster of the left first trigeminal branch developed herpetic keratouveitis in her left eye despite treatment with oral valaciclovir. Seven days later, a progressive and total left ophthalmoplegia appeared, requiring hospital admission and intravenous treatment with acyclovir and corticosteroids. The neuroimaging was suggestive of an orbital apex syndrome. The evolution of the ophthalmoplegia was favourable, with complete resolution at 5 months, but with decreased visual acuity due to the optic nerve involvement.

Comparison of postural control between strabismic and non-strabismic children. / Comparativa del control postural entre niños estrábicos y no estrábicos.

OBJECTIVE: To compare the postural control of children with strabismus versus non-strabismus children. MATERIAL AND METHODS: Cross-sectional cohort study with a total of 171 children, including 73 children with esotropia, 24 with exotropia, and 74 controls. Postural control was determined using a dynamometric platform in a standing position in various conditions: eyes open and eyes closed, near and gaze fixation, and with and without foam pad. The studied variables were the area, the mean speed, and the lengths in the X and Y axis of the centre of pressure displacement. RESULTS: Children with esotropia and exotropia had significantly higher mean values (speed, lengths of X and Y) compared to controls. In the open-eye, far distance fixation, and on foam pad, as well as under exam conditions; with eyes open, without foam pad, and far distance fixation, the exotropia values were higher than those of endotropia and controls. With eyes closed, there were no differences between the 3 groups under the described examination conditions, but their values were worse compared to their respective ones with eyes open. CONCLUSIONS: The children with strabismus had a worse postural control than the non-strabismus ones. All of the them appeared to be more unstable with eyes closed than with eyes open, which demonstrates that vision plays an important relevant role in postural stability in both strabismus and non-strabismus children.

A variant Nishida's technique for surgical correction of monocular elevation deficiency syndrome. / Variante de la técnica de Nishida para la corrección quirúrgica del síndrome de déficit monocular de la elevación.

Monocular elevation deficiency (MED) is characterized by unilateral limitation of supraductions, similar in adduction and abduction, in addition to hypotropia and ptosis. We describe a case of a 62-year-old woman with long-standing left ptosis who was initially operated with a frontal suspension technique. On subsequent examinations, a MED of that eye was found. The passive duction test was positive, so the inferior rectus was recessed. In addition, a modified Nishida technique was performed, consisting of the scleral anchorage of the superior edges of the rectus, medial and lateral, 12mm from the corneal limbus in the superonasal and superotemporal quadrants, respectively. Postoperatively, the left eye presented a minimal hypotropia of 3 PD. This modified technnique used here on the horizontal rectus muscles, turned out to be effective and safe for the correction of MED.

Evaluation of the insertion distance of the medial rectus in consecutive exotropia by means of intraoperative measure and optical coherence tomography. / Evaluación de la distancia al recto medio en la exotropía consecutiva mediante tomografía de coherencia óptica y medida intraoperatoria.

PURPOSE: To assess the agreement between the intraoperative measurements of the distance from the medial rectus muscles insertion to the limbus and preoperative spectral-domain optical coherence tomography (SD-OCT) in consecutive exotropia (cXT). METHODS: An analysis was performed on total of 14 medial rectus (MR) muscles of 14 patients who underwent surgery for the treatment of cXT. The limbus-insertion distance of the MR muscles was measured using preoperative SD-OCT and intraoperatively using a calliper. The intraclass correlation coefficient (ICC) and Bland Altman plots were calculated to determine the agreement between the two methods, as well as the correlation. RESULTS: Mean age was 36.3±16.0 years (range 13-60), with 60% being women. Mean preoperative deviation was 38.7±16.9 prismatic dioptres (PD) (range 16 to 65), being +1.3±6.3 PD (range -12 to +10 PD) after surgery. Intraoperatively the MR insertion was found at 8.7±2.1mm (range 5.5 - 12.0) and by OCT at 7.7±1.2mm (range 5.3 - 10.0). The ICC showed a moderate to good agreement (0.659; 95% confidence interval: 0.157-0.885; P<.001), with a correlation of R=0.792 (P=.011). A better agreement was observed in those MR that were less retro-inserted. CONCLUSIONS: SD-OCT is able to measure the insertion to the limbus distance of the medial rectus muscles that have been previously operated on, showing moderate to good agreement with intraoperative measurements. However, the agreement was poor in muscles with a large retro-insertion.

Malmström vacuum or Kielland forceps: which causes more damage to pelvic floor?

OBJECTIVE: To determine whether differences exist in the rate of levator ani muscle (LAM) avulsion between women who had undergone either Malmström vacuum delivery (MVD) or Kielland forceps delivery (KFD), allowing for potential confounding factors. METHODS: This was a prospective observational study of nulliparous women undergoing instrumental delivery using Malmström vacuum extractor or Kielland forceps, at two hospital centers in Spain. Fetal head position (anterior, posterior or transverse) and fetal head station (low or mid) were assessed by ultrasound and digital examination, respectively. Avulsion was defined on tomographic ultrasound imaging as an abnormal insertion of the LAM in the three central slices from the plane of minimal hiatal dimensions. RESULTS: In total, 414 patients were included in the study (212 MVD and 202 KFD). We observed a higher rate of LAM avulsion in the KFD group (KFD 49.5% vs MVD 32.5%; P = 0.001). When the results were evaluated according to fetal head position and station, we observed no differences in LAM avulsion. The crude odds ratio (OR) for the difference in avulsion between women in the KFD and MVD groups was 2.03 (95% CI, 1.36-3.03). However, when adjusted for duration of second stage of labor, fetal head circumference and fetal head station, the OR was no longer statistically significant (OR, 2.14 (95% CI, 0.95-4.85); P = 0.068). CONCLUSION: When potential confounding factors are taken into account, the rate of LAM avulsion does not differ between women according to whether they have undergone KFD or MVD. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Online learning for 3D/4D transperineal ultrasound of the pelvic floor.

Introduction. To evaluate the feasibility of an online learning process for performing and analyzing 3D/4D transperineal ultrasound imaging of the pelvic floor.Materials and methods: A prospective study was conducted with 20 patients. The learning process of three inexperienced examiners (IEs) performing and analyzing 3D/4D transperineal ultrasound volumes was evaluated. The learning process for the IEs was conducted online by an expert examiner (EE); no face-to-face tutoring was provided. The IEs' competency and analysis of the volumes were estimated using the intraclass correlation coefficient (ICC).Results: The interobserver analysis of the levator hiatus dimensions provided by the EE and those from each IE (for the 20 studied cases) had ICCs ranging from 0.81 to 0.96. The dimensions of the levator hiatus performed by the IEs for the first 10 patients showed ICCs ranging from 0.55 to 0.9. However, when the IEs proceeded with the next 10 patients, they obtained ICCs ranging from 0.81 to 0.96.Conclusions: Conducting 3D/4D transperineal ultrasound of the pelvic floor is a technique that can be learned online in a short period of time. A learning programme designed specifically for this purpose provides excellent reliability.Key Message: Conducting 3D/4D transperineal ultrasound of the pelvic floor is a technique that can be learned online in a short period of time.

Recurrent pre-retinal haemorrhages associated with coagulation factor VII deficiency. / Hemorragias prerretinianas de repetición asociadas a déficit del factor VII de la coagulación.

The case concerns a 20 year-old woman with a sudden visual loss in her left eye. In the fundus examination, a focal pre-retinal haemorrhage was observed in the superior temporal vascular branch with accompanying vitreous haemorrhage. There was a favourable spontaneous outcome. Eighteen months later, she presented with a new visual loss in the same eye, showing a sub-hyaloid pre-macular haemorrhage that was satisfactorily drained by hyaloidotomy using a Nd-YAG laser. The patient had also presented with an upper digestive tract haemorrhage and menorrhagia. A haemostasis study was performed that showed a coagulation factor VII deficiency. This is a very uncommon disorder that has not been previously described in association with the appearance of pre-retinal haemorrhages.

Papillitis and neuroretinitis of tuberculous etiology. / Papilitis y neurorretinitis de etiología tuberculosa.

A 57-year-old man with miliary tuberculosis reported visual loss in his right eye, a month after starting a four-drug antituberculous treatment regimen. On exploration, an inferior segmental optic disc edema was objectived and it was attributed to ischemic aetiology. Ethambutol was withdrawn and 60mg of oral prednisone daily were given with a tapering dosage. One and a half months later, he presented a sudden loss of vision in his left eye. In fundoscopy, a papillary edema accompanied by a foveal neurosensory detachment was observed but with no more accompanying uveitic signs. Treatment was intensified with moxifloxacin and corticosteroids were reduced, showing a resolution of the macular detachment but with optic atrophy. Isolated tuberculous involvement of the optic nerve may possible in the context of miliary tuberculosis. In this case, the adopted therapeutic approach to the initial papillitis, which was interpreted as ischemic, could favour the appearance of a neuroretinitis in the fellow eye.

Atypical presentation of Best Disease. / Presentación atípica de la enfermedad de Best.

CLINICAL CASE: A 43-year-old man was treated for reduced visual acuity, initially attributed to strabismic amblyopia. On fundus examination, bilateral neurosensory detachments (NSD) were observed in posterior pole, surrounded by deposits of lipofuscin. His 3-year-old son was also examined and circumscribed NSD was observed with the presence of pseudohypopyon in OD and a fibrosis scar in OS. The Arden ratio were decreased in electrooculography (EOG) in both patients, and genetic studies revealed a single mutation of the BEST1 gene. DISCUSSION: The existence of extensive bilateral NSD may be an unusual form of presentation of Best disease. Family history, EOG, and genetic study supported this diagnosis.

Papillophlebitis in a young male patient with Buerger's disease. / Papiloflebitis en varón joven con enfermedad de Buerger.

CLINICAL CASE: A 27-year-old male with sudden visual loss of OD. He had a past history of heavy smoking, as well as a chronic ischaemia of his left lower limb of one-year onset. This led to a diagnosis of Buerger's disease, which is an inflammatory thrombotic disorder that affects small and medium vessels. The visual acuity (VA) of OD was 0.9, and in the funduscopy a very congestive papilla was observed, along with venous tortuosity, scattered retinal haemorrhages, but without macular oedema. He progressed favourably, with a complete recovery of VA. DISCUSSION: Papillophlebitis may be an ocular complication of Buerger's disease.

Effects of arachidonic acid on FFA4 receptor: Signaling, phosphorylation and internalization.

Arachidonic acid increased intracellular calcium, in cells expressing green fluorescent protein-tagged human FFA4 receptors, with an EC50 of ~40µM. This action was not blocked by cyclooxygenase or lipoxigenase inhibitors but it was inhibited by AH7614, a FFA4 antagonist. Arachidonic acid induced ERK activation accompanied by EGF receptor transactivation. However, EGF transactivation was not the major mechanism through which the fatty acid induced ERK phosphorylation, as evidenced by the inability of AG1478 to block it. Arachidonic acid increased FFA4 receptor phosphorylation that reached its maximum within 15min with an EC50 of ~30µM; inhibitors of protein kinase C partially diminish this effect and AH7614 blocked it. Arachidonic acid induced rapid and sustained Akt/PKB phosphorylation and FFA4 - ß-arrestin interaction. Confocal microscopy evidenced that FFA4 receptor activation and phosphorylation were associated to internalization. In conclusion, arachidonic acid is a bona fide FFA4 receptor agonist.

[Neurofibromatosis type 2 in childhood: a clinical characterization]. / Neurofibromatosis de tipo 2 con inicio en la edad pediatrica: identificacion de los primeros signos y sintomas.

INTRODUCTION: Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities. CASE REPORT: A 12-year old male with diagnosis of MF2 according to Baser et al and presentation in childhood was included. A comprehensive bibliographic review of evolution of the diagnostic criteria for NF2 in children was performed. CONCLUSIONS: The pattern of presentation of NF2 in childhood differs from adulthood in many aspects. Ophthalmologic and skin manifestations, and not an auditory dysfunction, are the most common initial symptoms in prepuberal-onset NF2. The most frequent symptoms and signs at presentation are posterior subcapsular cataract, skin manifestations as NF2 plaques and/or peripheral nerve tumors, and neurological dysfunction related to isolated or multiple cranial nerve deficits (other than nerve VIII), brainstem masses or spinal masses. As sensitivity of diagnostic criteria in children is low, those prepuberal patients with congenital or early-onset cataracts and typical skin manifestations of NF2 should be systematically assessed.

TITLE: Neurofibromatosis de tipo 2 con inicio en la edad pediatrica: identificacion de los primeros signos y sintomas.Introduccion. La neurofibromatosis de tipo 2 (NF2) es un trastorno neuroectodermico con patron de herencia autosomico dominante que condiciona una predisposicion para desarrollar tumores de varios tipos en el sistema nervioso central y periferico. Se asocia tambien con alteraciones oculares y cutaneas. Caso clinico. Varon de 12 años con diagnostico de NF2 de acuerdo con los criterios de Baser et al e inicio en la infancia. Se realiza una revision bibliografica sobre la evolucion de los criterios diagnosticos en los niños. Conclusiones. El modo de presentacion de la NF2 en la infancia difiere de la presentacion en los adultos. Las manifestaciones iniciales de NF2 en los niños son las alteraciones oculares y cutaneas, no las auditivas. La clinica de inicio mas frecuente en la edad pediatrica es la triada de cataratas subcapsulares posteriores, lesiones intracutaneas en forma de placa o tumores nodulares subcutaneos, y sintomas neurologicos secundarios a la afectacion de pares craneales distintos al VIII par, tronco encefalico o medula espinal. Debido a que los criterios diagnosticos de NF2 son menos sensibles en los pacientes pediatricos, los niños con cataratas congenitas o de aparicion precoz y manifestaciones cutaneas tipicas de NF2 deben ser seguidos estrechamente.

Levator ani muscle injuries associated with vaginal vacuum assisted delivery determined by 3/4D transperineal ultrasound.

OBJECTIVES: To determine the rate of pelvic floor trauma, levator ani muscle (LAM) avulsion as well as the mean difference in levator hiatus area, after normal vaginal deliveries (NVD) and vacuum assisted deliveries (VD), assessed with three-dimensional transperineal ultrasound (3D-TpUS). MATERIALS AND METHODS: Prospective observational study with 151 nulliparous women with NVD or VD at ≥37 weeks between 9-2012 and 6-2013. 3D-TpUS was performed six months after every patient's delivery, during which LAM, anteroposterior diameter, transverse diameter and levator hiatus area were assessed. RESULTS: A total of 146 nulliparous were studied, comprising 73 NVD and 73 VD. No differences in obstetric, intrapartum or neonatal characteristics were observed between study groups, with the following exceptions: maternal age (28.1 ± 5.4 versus 30.4 ± 5.5; p = 0.008, OR = 1.1) and episiotomy rate (35.6% versus 97.3%; p = 0.011, OR = 4.3). LAM avulsion rate was 9.6% in NVD versus 34.2% in VD (p = 0.001, OR 3.99), while levator hiatus area at rest was 16.5 ± 3.2 versus 18.2 ± 3.9 (p = 0.016). CONCLUSIONS: Vacuum assisted deliveries present a higher rate of LAM avulsion, as well as a greater increase in levator hiatal area than in NVD.