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.

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.

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.

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.

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.

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.

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.

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.

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.

[Diffuse large B cell lymphoma presenting with a bilateral serous macular detachment]. / Desprendimiento seroso macular bilateral como forma de presentación de linfoma B difuso de célula grande.

CLINICAL CASE: A 42 year-old male was assessed for a subacute, bilateral and progressive visual loss. His medical history included chronic hepatitis C infection and Evans syndrome. On fundal examination, multiple areas of neurosensorial and retinal pigmented epithelium detachment were observed in the region of both macula. A few days later, his general health deteriorated and he was noted to have a high fever and adenopathy. Biopsy of an enlarged lateral cervical lymph node demonstrated the existence of a diffuse large B cell lymphoma. After several cycles of chemotherapy, he experienced a progressive and bilateral improvement of his vision, which was accompanied by a reattachment of the previously detached areas. DISCUSSION: A bilateral and serous macular detachment may be the initial manifestation of a diffuse large B cell lymphoma. The prognosis of these retinal lesions may be favourable if lymphoma remission is achieved.

[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.

[Study of the retinal nerve fiber layer in childhood strabismus]. / Estudio de la capa de fibras nerviosas de la retina en el estrabismo infantil.

OBJECTIVE: To assess possible differences in the retinal nerve fiber layer (RNFL) thickness between children with strabismus and controls. This study also compared esotropia with exotropia cases, and dominant eyes with non-dominant eyes. METHOD: 31 children with esotropia, 17 children with exotropia and 32 controls were studied. The peripapillary RNFL average thickness was determined in 4 different areas (inferior, superior, nasal and temporal) using optical coherence tomography. Statistical analysis was performed a) between the strabic children and the control group, b) between the esotropia and exotropia groups, and c) between the dominant eyes and the non-dominant eyes of the strabic children. RESULTS: No statistically significant differences in RNFL thickness were found in any of these statistical comparisons. CONCLUSIONS: From this study, no evidence of changes in RNFL thickness, associated to the existence of strabismus, were found.

[Appraisal of the formation of afterimages by means of a new computer application in patients with demyelinating optic neuropathies]. / Valoracion de la formacion de postimagenes mediante una nueva aplicacion informatica en pacientes con neuropatias opticas desmielinizantes.

INTRODUCTION: The perception of colour is one of the visual functions affected by optic neuritis. Most of the tests currently available for evaluating dichromatism are based on assessing the hue, but no clinical studies have been conducted to investigate the formation of afterimages on the retina of these patients. AIMS: To evaluate the dichromatism acquired in demyelinating optic neuritis by means of the formation of afterimages on the retina. SUBJECTS AND METHODS: This is an observation-based, cross-sectional, case-control study. The cases are patients with at least one bout of optic neuritis and confirmed multiple sclerosis. A healthy age- and sex-paired control was selected for each case. The main variable is the capacity to see afterimages after saturation of the retinal photoreceptor cells. A specific computer application was developed to evaluate this phenomenon. RESULTS: The sample consisted of 30 cases and 30 controls (63% females; mean age: 33 years; range: 18-48 years). The cases showed less probability of seeing the afterimage (36.6% of the cases, while none of the controls failed to see an afterimage) and, if it was seen, it remained for less time. The ROC curve shows a sensitivity of 86.3% and a specificity of 83.3%. The odds ratio was 5 (95% confidence interval: 2.21-11.3) for the probability of seeing the afterimage in controls versus cases. CONCLUSIONS: Patients with at least one episode of optic neuritis presented a lower capacity to observe afterimages. The test is therefore useful in the assessment and follow-up of functional damage in demyelinating optic neuropathies.

TITLE: Valoracion de la formacion de postimagenes mediante una nueva aplicacion informatica en pacientes con neuropatias opticas desmielinizantes.Introduccion. En las neuritis opticas se afecta, entre otras funciones visuales, la percepcion del color. La mayoria de las pruebas existentes para evaluar discromatopsias se basa en evaluar el matiz, pero no se ha estudiado clinicamente la formacion de postimagenes en la retina en estos pacientes. Objetivo. Evaluar la discromatopsia adquirida en las neuritis opticas desmielinizantes mediante la formacion de postimagenes en la retina. Sujetos y metodos. Estudio observacional, transversal, de casos y controles. Los casos son pacientes con al menos un episodio de neuritis optica y esclerosis multiple confirmada. Se selecciono un control sano por cada caso, emparejado por edad y sexo. La variable principal es la capacidad de ver postimagenes tras saturar los fotorreceptores retinianos. Para evaluar dicho fenomeno se desarrollo una aplicacion informatica especifica. Resultados. La muestra comprende 30 casos y 30 controles (63% mujeres; edad media: 33 años; rango: 18-48 años). Los casos mostraron menor probabilidad de ver la postimagen (el 36,6% de los casos y ningun control no veian postimagen) y, en caso de verla, una menor permanencia de ella. La curva ROC muestra una sensibilidad del 86,3% y una especificidad del 83,3%. La odds ratio era de 5 (intervalo de confianza al 95%: 2,21-11,3) para la probabilidad de ver la postimagen en los controles frente a los casos. Conclusiones. Los pacientes con al menos un episodio de neuritis optica presentan una menor capacidad de observar postimagenes, por lo que la prueba es util para la evaluacion y el seguimiento del daño funcional en neuropatias opticas desmielinizantes.

[Peripheral homonymous hemianopia. A case report]. / Hemianopsia homónima periférica. A propósito de un caso.

CASE REPORT: A 63-year-old male with a history of hypertension, hypercholesterolemia and chronic smoking, presented with a loss of the temporal visual field of right eye (RE). A restriction of the temporal field of RE and also of the nasal field of left eye was clinically suspected when the patient was tested by confrontation. A kinetic perimetry confirmed the existence of a right homonymous hemianopia that was very eccentric in both eyes (beyond the central 50 degrees). Brain magnetic resonance images revealed a well-circumscribed infarction in the ventral portion of the left calcarine fissure that was consistent with the patient's visual field loss. DISCUSSION: Peripheral homonymous hemianopsia is a rare condition that is caused by a partial infarction of the most ventral striate cortex. Kinetic perimetry provided the most helpful information about the referred scotomas.

Divergence insufficiency and demyelinating disorder.

PURPOSE: To describe a divergence insufficiency in a young woman. METHODS: Case report. RESULTS: A 38-year-old woman presented with a episode of homonymus horizontal diplopia at distance. She was orthophoric at near but had esotropia at distance. Neurological evaluation was normal but multiple demyelinating lesions were shown in the magnetic resonance scan, with increased intrathecal Ig G production. Double vision improved after corticosteroid mega-doses. CONCLUSIONS: An acute onset of diplopia due to divergence insufficiency in a young adult may be associated with a demyelinating disorder.