Ocular manifestations of SARS-CoV-2: Literature review. / Manifestaciones oftalmológicas del SARS-CoV-2: Revisión de la literatura.

In this review, a summary is presented of the main reports regarding the potential ocular manifestations of the new coronavirus disease (COVID-19). Scientific evidence is based on letters to the editor, clinical cases and case series, cross-sectional, and a few longitudinal studies. To date, it includes viral conjunctivitis, immune conjunctivitis, and oculomotor palsies (OCP) due to the novel coronavirus. Retinopathy is discussed. A viral conjunctivitis outbreak can be isolated or associated with the systemic picture, mainly pulmonary, before or after the onset of respiratory symptoms. It can be both unilateral and bilateral, follicles are typical, and duration is variable between 5 and 21 days. Immune-mediated conjunctivitis consists of eye redness, together with erythroderma and fever. It appears more frequently in children, and has been associated with a «Kawasaki-like¼ disease and toxic shock syndrome. OCP can present on its own, or as part of Miller-Fisher syndrome, along with ataxia, and hyporeflexia. Ophthalmologists have a considerable risk of developing COVID-19 due to close contact with the patient, exposure to tears and eye secretions, and the use of various pieces of equipment and devices susceptible to contamination.

La esclerosis múltiple en oftalmología: más allá de la neuritis óptica / Multiple sclerosis in ophthalmology: beyond optic neuritis

Las alteraciones del sistema visual son uno de los principales rasgos de la esclerosis múltiple (EM) y conllevan un gran impacto en la calidad de vida de los pacientes. Aunque la neuritis óptica es la manifestación más frecuente, existen otros procesos oftalmológicos no relacionados con la neuritis, cuyo conocimiento es de gran utilidad en el manejo de los pacientes con EM. Se describen estas anomalías agrupadas en alteraciones de las vías aferente y eferente, así como de áreas cerebrales superiores. Adicionalmente, se describen los principales efectos oftalmológicos secundarios de los fármacos actualmente empleados en el control de la EM

Disorders of the visual system are one of the main features of multiple sclerosis (MS), and have a great impact on the quality of life of patients. Although optic neuritis is the most frequent manifestation, there are other ophthalmological processes not related to neuritis, a knowledge of which is very useful in the management of patients with MS. These abnormalities are described, grouped into impairments of the afferent pathway, efferent pathway, or upper cerebral areas. Additionally, the main ophthalmological side effects of the drugs currently used in the control of MS are described

Oftalmoplejía externa y visceromegalia como alerta de enfermedad de Gaucher en pacientes con trastornos del neurodesarrollo / External ophthalmoplegia and visceromegaly as alert for Gaucher disease in patients suffering neurodevelopmental disorders

Objetivo: Valorar la importancia de la asociación de visceromegalia y oftalmoplejía externa de aparición temprana en la vida, en pacientes con trastornos del neurodesarrollo, para eldiagnóstico de la forma neuronopática de enfermedad de Gaucher.Caso clínico: Lactante de seis meses ingresada por presentar afectación global del neurodesarrollo, microcefalia, postura frecuente de hiperextensión de cuello y tronco (opistótonos), crisis recurrentes de cianosis, hepatomegalia, esplenomegalia y evidente limitación de la motilidad ocular extrínseca bilateral. Además, se evidenció en la paciente retraso de la osificación. La existencia de hepatoesplenomegalia y limitación dela motilidad ocular extrínseca bilateral fueron manifestaciones decisivas en el diagnóstico clínico, aunque inicialmente hubo dudas respecto a la afectación del neurodesarrollo, (retraso vs regresión). No obstante, la determinación de la mutación L444P del gen GBA1 permitió el diagnóstico definitivo.Conclusiones: La presencia de visceromegalia y oftalmoplejía externa bilateral de aparición temprana en la vida, en pacientes con trastornos del neurodesarrollo, son manifestacionesque sugieren la forma neuronopática (tipo 2) de la enfermedad de Gaucher. Estos pacientes pueden presentar manifestaciones atípicas como retraso del neurodesarrollo y afectación ósea(AU)

Objective: To assess the importance of the association of visceromegaly and early-onset external ophthalmoplegia, in patients with neurodevelopmental disorders, for the diagnosis of the neuropathic form of Gaucher disease.Clinical case report: A six-month-old infant was admitted for showing globalneurodevelopmental involvement, microcephaly, frequent posture of neck and trunk hyperextension (opisthotonos), recurrent cyanosis crises, hepatomegaly, splenomegaly, andevident limitation of bilateral extrinsic ocular motility. Furthermore, delayed ossification was evident in the patient. The existence of hepatosplenomegaly and limitation of bilateral extrinsic ocular motility were decisive manifestations in the clinical diagnosis, although initially there were doubts regarding neurodevelopmental involvement (delay vs. regression). However, the determination of L444P mutation of GBA1 gene allowed thedefinitive diagnosis.Conclusions: The presence of visceromegaly and early-onset bilateral external ophthalmoplegia, in patients with neurodevelopmental disorders, are manifestations that suggest Gaucher disease neuropathic form (type 2). These patients may have atypicalmanifestations such as neurodevelopmental delay and bone involvement(AU)

Clinical characterization of anti-GQ1b antibody syndrome in Korean children.

Anti-GQ1b antibody syndrome encompasses Miller Fisher syndrome and its related disorders. We retrospectively identified 11 pediatric patients (5.4-18 years old) with anti-GQ1b antibody syndrome. Diagnoses of patients included acute ophthalmoparesis (n = 6), classical Miller Fisher syndrome (n = 2), Miller Fisher syndrome/Guillain-Barré syndrome (n = 1), acute ataxic neuropathy (n = 1), and pharyngeal-cervical-brachial weakness (n = 1). Nine patients (81.8%) fully recovered. Maturational change in GQ1b antigen expression and the accessibility of anti-GQ1b antibodies might be the cause of the difference of clinical manifestations in children with anti-GQ1b antibody syndrome.

Characteristics of single ocular motor nerve palsy associated with anti-GQ1b antibody.

To define the prevalence and characteristics of single ocular motor nerve palsy (OMNP) associated with positive serum anti-GQ1b antibody. We performed a prospective multicenter study that recruited 82 patients with single OMNP without identifiable causes from the history and neuroimaging in six neurology clinics of university hospitals. We measured serum anti-GQ1b antibody in all participants. Twelve patients with multiple OMNP and 30 with identifiable causes served as the controls. Overall, the prevalence of anti-GQ1b antibody syndrome was 10% (8/82) in patients with single OMNP and 6% (5/78) in those with single OMNP in isolation. None of the 14 patients with OMNP with identifiable causes showed positive serum anti-GQ1b antibody. The prevalence of anti-GQ1b antibody syndrome was much higher in patients with multiple OMNP than in those with single OMNP (50% vs. 10%, p < 0.01). Patients with single OMNP and positive anti-GQ1b antibody are younger (42 ± 16 vs. 58 ± 15, p < 0.05) and had a significantly higher frequency of preceding infection (75 vs. 19%, p < 0.05) and other neurological signs (38 vs. 1%, p < 0.05) than those with negative antibody. Eight patients with single OMNP and positive serum anti-GQ1b antibody involved the abducens (n = 6), trochlear (n = 1), or oculomotor nerve (n = 1). Single OMNP accompanying other neurological signs and multiple OMNP are more likely to be associated with anti-GQ1b antibody. Anti-GQ1b antibody syndrome should be considered even in patients with single OMNP, especially when antecedent infection was associated in younger patients.

Atypical clinical manifestations of Miller Fisher syndrome.

Miller Fisher syndrome (MFS) is characterized by a clinical triad of ophthalmoplegia, ataxia, and areflexia, and is closely associated with serum anti-GQ1b antibody. Although the clinical triad is the cardinal diagnostic clue, a variety of other symptoms and signs beyond the triad have been reported. To elucidate the frequency and characteristics of atypical clinical manifestations of MFS, we recruited 38 patients with MFS and evaluated the symptoms or signs beyond the classic triad. Eleven (29%) of 38 patients had atypical clinical manifestations of MFS such as headache (n = 6), delayed facial palsy (n = 3), divergence insufficiency (n = 2), and taste impairment (n = 2). Headache was localized to the periorbital (n = 3), temporal (n = 2), or whole (n = 1) area. Only one of them showed bilateral papilledema and an elevated opening pressure in cerebrospinal fluid analysis. Delayed facial palsy developed after the other signs have reached nadir (n = 1) or started to improve (n = 2), and did not follow a pattern of descending paralysis with other cranial neuropathies. Two patients showed divergence insufficiency without external ophthalmoplegia, and another two had taste impairment over the entire tongue without the other signs of facial and glossopharyngeal nerve involvements. Our study shows that approximately 30% of MFS patients can have atypical clinical manifestations beyond the classic triad. These results reflect the broad clinical spectrum of MFS, and might be associated with the presence of additional antiganglioside antibodies besides anti-GQ1b in patients with MFS.

Utilitat de la tomografia computada davant la sospita de cel·lulitis orbitària a Urgències / Celulitis orbitaria y tomografia computarizada en urgencias / The value of computerized tomography in the diagnosis of orbital cellulitis in the emergency department

Fonament: La cel·lulitis orbitària (CO) és un diagnòstic de sospita clínica que requereix confirmació radiològica. És habitual l'ingrés amb tractament antibiòtic a l'espera de la confirmació diagnòstica. Objecti: Avaluar el possible impacte de la realització d'una tomografia computada (TC) en el maneig a Urgències del pacient amb sospita de CO. Mètode: Estudi retrospectiu, descriptiu-observacional. Es van revisar les històries clíniques dels pacients atesos a Urgències entre 2011 i 2014 amb diagnòstic de cel·lulitis periorbitària/orbitària. Es van incloure els casos amb sospita de CO. Es van excloure els pacients sense TC. Es defineix CO com la cel·lulitis que afecta més enllà del septe orbitari. Es van considerar criteris d'ingrés: edat <1 any, immunosupressió, vacunació incompleta, triangle d'avaluació pediàtrica (TAP) alterat, mala resposta antibiòtica i presència d'algun dels símptomes o signes oculars següents: dolor amb els moviments oculars, oftalmoplegia, disminució de l'agudesa visual, alteració dels reflexos pupil·lars, edema conjuntival i proptosi. Resultats: Es van incloure 85 pacients. Tots van ser immuno-competents, ben vacunats i presentaven un TAP normal. Vint (23,5%) presentaven un o més signes o símptomes oculars. Vint-i-set (31,8%) tenien un o més criteris d'ingrés. Dels 58 sense criteris d'ingrés, en 38 (65,5%) no es va confirmar CO. A 18 (31%) d'aquests pacients se'ls va fer TC a Urgències; en 13 casos es va indicar maneig ambulatori, ja que l'afectació era només preseptal. Es va confirmar CO en 34 pacients (concordança diagnòstica 40%).Conclusions: En més de la meitat dels pacients amb sospita de CO, aquesta no es confirma radiològicament. Fer una TC a Urgències, en els pacients que no tenen criteris d'ingrés, evitaria hospitalitzacions innecessàries en un nombre significatiu

Fundamento: La celulitis orbitaria (CO) es un diagnóstico de sospecha clínica que requiere confirmación radiológica. Es habitual el ingreso con tratamiento antibiótico a la espera de la confirmación diagnóstica. Objetivo: Evaluar el posible impacto de la realización de una tomografía computadorizada (TC) en el manejo en urgencias del paciente con sospecha de CO. Método: Estudio retrospectivo, descriptivo-observacional. Se revisaron las historias clínicas de los pacientes atendidos en Urgencias entre 2011 y 2014 con el diagnóstico de celulitis periorbitaria/orbitaria. Se incluyeron aquellos con sospecha de CO. Se excluyeron los pacientes sin TC. Se define CO como la celulitis que afecta más allá del septo orbitario. Se consideraron criterios de ingreso: edad <1 año, inmunosupresión, vacunación incompleta, triángulo de evaluación pediátrica (TEP) alterado, mala respuesta antibiótica y presencia de alguno de los siguientes síntomas o signos oculares: dolor con los movimientos oculares, oftalmoplejía, disminución de la agudeza visual, alteración de los reflejos pupilares, edema conjuntival y proptosis. Resultados: Se incluyeron 85 pacientes. Todos fueron inmunocompetentes, bien vacunados y presentaron un TEP normal. Veinte (23,5%) presentaron uno o más signos o síntomas oculares. Veintisiete (31,8%) tenían uno o más de los criterios de ingreso. De los 58 sin criterios de ingreso, en 38 (65,5%) no se confirma CO. A 18 (31%) de estos pacientes se realizó TC en urgencias; en 13 casos se indicó manejo ambulatorio, dado que la afectación era sólo preseptal. Se confirmó CO en 34 pacientes (concordancia diagnóstica 40%) Conclusiones: En más de la mitad de los pacientes con sospecha de CO, ésta no se confirma radiológicamente. La realización de TC en urgencias, en los pacientes que no tienen criterios de ingreso, evitaría hospitalizaciones innecesarias en un número significativo

Background: Orbital cellulitis (OC) is a diagnos hospitalization with intravenous antibiotic therapy until the diagnosis is confirmed. Objective: To evaluate the impact of performing a computerized tomography (CT) in the emergency department when orbital ellulitis is suspected on the initial management of the patient. Method: Descriptive observational retrospective study. Clinical records of patients who were attended in the emergency department with the diagnosis of periorbital/orbital cellulitis between 2011 and 2014 were reviewed. Patients with suspected OC were included, and those without T were excluded. OC was defined as postseptal when there was inflammatory extension posterior to the orbital septum. Criteria for hospitalization were: age < 1 year-old, immunosuppression, incomplete vaccinations, altered pediatric assessment triangle PAT), inadequate antibiotic response, and the presence of any of the following: painful ocular movements, ophthalmoplegia, decline of visual acuity, altered pupillary response, conjunctival edema, and proptosis. Results: Eighty-five patients were included. All of hem were immunocompetent, correctly vaccinated, and had normal PAT. Twenty patients (23.5%) presented > 1 ocular signs-symptoms, and 27 (31.8%) had > 1 riteria for hospitalization. In 38 of the 58 pa-tients (65.5%) without hospitalization criteria, C as not confirmed. In 18 (31%) of them, CT was performed in the Emergency Department; in 3 of them the affected area was only preseptal, and ambulatory management was indicated. he diagnosis of OC was confirmed in 34 cases (diagnostic concordance: 40%).Conclusions: in more than half of the patients with clinical suspicion of OC there is not radiological confirmation. Performing a CT in the Emergency Department in patients without hospitalization criteria would avoid unnecessary hospitalizations in a significant proportion of patients.is of clinical suspicion that requires radiologic confirmation. Performing a CT in the Emergency Department in patients without hospitalization criteria would avoid unnecessary hospitalizations in a significant proportion of patients

Oculomotor palsy in diabetics.

INTRODUCTION: Oculomotor palsy is one of the most frequent neuro-ophthalmologic complications of diabetic patients. It generates less interest in the literature than the other ocular manifestations. Our goal was to study the clinical, epidemiological, therapeutic and prognostic characteristics of oculomotor palsy in the diabetic. METHODS: This is a retrospective study of 24 diabetic patients with oculomotor palsy. The ophthalmological examination emphasized ocular motility. We performed an orthoptic assessment and a Hess-Lancaster test. Neuro-imaging was ordered in case of IIIrd and IVth nerve involvement, bilateral involvement, multiple ocular cranial nerve palsy or associated optic neuropathy. Treatment consisted of glucose management and alternating monocular occlusion or prisms for the diplopia. Data were entered and analyzed on SPSS 11.5 software. RESULTS: The mean age of the patients was 58.5±11.9 years. Binocular diplopia was the main symptom. The oculomotor palsy involved the VIth nerve in 50% of cases and was bilateral in two cases. Three patients also had an optic neuropathy. The mean duration of diabetes was 11.7±11 years; poorly controlled diabetes was found in 75% of cases and an association with diabetic retinopathy was noted in 56% of cases. CONCLUSIONS: Long-standing uncontrolled type 2 diabetes, hypertension, coronary artery disease, left ventricular hypertrophy, and elevated hematocrit are the most common risk factors. The VIth nerve is commonly involved. Certain characteristics of the pupillary light reflex can help to differentiate an ischemic insult from an aneurysmal injury to the IIIrd nerve.

Pattern of ocular involvement in myasthenia gravis with MuSK antibodies.

BACKGROUND: Myasthenia gravis (MG) with antibodies to the muscle-specific kinase (MuSK) has a characteristic phenotype. Ocular manifestations have not been systematically evaluated. OBJECTIVE: To investigate the features of extrinsic ocular muscle involvement in patients with MuSK-MG. METHODS: We retrospectively evaluated the prevalence, time of onset, clinical pattern and outcome of ocular symptoms in 82 patients with a clinical follow-up ≥2 years. RESULTS: Ocular manifestations were observed in 79 patients (96.4%) and were the presenting symptoms in 48 (58.5%). Intermittent diplopia with subtle ophthalmoparesis was the most common complaint, ptosis was generally symmetrical and conjugated gaze paresis occurred in 35% of the patients. Ocular manifestations responded well to prednisone and partially to symptomatic treatment. A few patients developed chronic symmetrical ophthalmoparesis, associated with persistent weakness in other muscle groups. All patients with ocular presentation progressed to generalised disease, though weakness spread to other muscle groups was considerably delayed in a few cases. CONCLUSIONS: In MG with antibodies to MuSK, ocular manifestations were as frequent as in other disease subtypes. Symmetrical ophthalmoparesis with conjugated gaze limitation was rather common and associated with low functional disability. A proportion of these patients developed chronic eye muscle paresis.

Parálisis de la convergencia secundaria a amoxicilina / Convergence palsy secondary to amoxicillin

CASO CLÍNICO: Presentamos el caso de un varón de 11 años, con diplopía aguda en la visión cercana, secundario a una parálisis de la convergencia transitoria, posiblemente relacionada con la toma de amoxicilina. DISCUSIÓN: La parálisis de la convergencia es un trastorno poco frecuente. Repasamos las causas que la pueden producir, e identificamos a la amoxicilina como agente etiológico. Es el primer caso comunicado (AU)

CASE REPORT: We present the case of an 11-year-old boy with acute diplopia in near vision secondary to transient convergence palsy, possibly in relation to amoxicillin. DISCUSSION: Convergence palsy is an uncommon eye disorder. The causes are reviewed, and amoxicilin is identified as presumptive etiologic agent. This is the first case reported

Manifestaciones neuroftalmológicas en enfermedades neuroendocrinas / Neurophthalmological findings in neuroendocrine diseases

La neuroftalmología es considerada una "especialidad frontera" por su vínculo con otras múltiples especialidades médicas, clínicas y quirúrgicas. Los tumores de hipófisis son de tal importancia desde el punto de vista neuroftalmológico que son tratados separadamente en casi todos los textos de la especialidad. El objetivo de la presente revisión es aproximarnos, sobre la base de los conocimientos actuales, a los hallazgos neuroftalmológicos de algunas enfermedades neuroendocrinas, haciendo hincapié en dos temas fundamentales: los adenomas hipofisarios y el síndrome de neoplasias endocrinas múltiples, y demostrar además el importante papel del neuroftalmólogo en estas dos entidades. Quedan aquí evidenciadas las variadas manifestaciones neuroftalmológicas de estas entidades neuroendocrinas, el importante cometido del oftalmólogo en el diagnóstico y el ulterior seguimiento de los pacientes con adenomas hipofisarios, así como lo decisiva que puede resultar su actuación en la identificación de los hallazgos asociados al síndrome de neoplasias endocrinas múltiples tipo 2 B(AU)

Neurophthalmology is considerate "frontier speciality" because of their relationships with many other medical and surgical specialities. Pituitary tumors are so important from neuro-ophthalmological point of view that they appear as special chapter in text books. Our objective in the present review is to refer the neurophthalmological finfings in two main entities: pituitary adenomas and multiple endocrine neoplasia syndromes and to establish the important role of neuro-ophthalmologist in those neuroendocrine conditions. It was proved the diversity of neurophthalmological findings in neuroendocrine entities, the important role of ophthalmologist in diagnosis and pursuance of patients with pituitary adenomas and its peremptory role in screening finding associated to 2 B type multiple endocrine neoplasia syndrome(AU)

Manifestaciones neuroftalmológicas en enfermedades neuroendocrinas / Neurophthalmological findings in neuroendocrine diseases

La neuroftalmología es considerada una especialidad frontera por su vínculo con otras múltiples especialidades médicas, clínicas y quirúrgicas. Los tumores de hipófisis son de tal importancia desde el punto de vista neuroftalmológico que son tratados separadamente en casi todos los textos de la especialidad. El objetivo de la presente revisión es aproximarnos, sobre la base de los conocimientos actuales, a los hallazgos neuroftalmológicos de algunas enfermedades neuroendocrinas, haciendo hincapié en dos temas fundamentales: los adenomas hipofisarios y el síndrome de neoplasias endocrinas múltiples, y demostrar además el importante papel del neuroftalmólogo en estas dos entidades. Quedan aquí evidenciadas las variadas manifestaciones neuroftalmológicas de estas entidades neuroendocrinas, el importante cometido del oftalmólogo en el diagnóstico y el ulterior seguimiento de los pacientes con adenomas hipofisarios, así como lo decisiva que puede resultar su actuación en la identificación de los hallazgos asociados al síndrome de neoplasias endocrinas múltiples tipo 2 B(AU)

Neurophthalmology is considerate frontier speciality because of their relationships with many other medical and surgical specialities. Pituitary tumors are so important from neuro-ophthalmological point of view that they appear as special chapter in text books. Our objective in the present review is to refer the neurophthalmological finfings in two main entities: pituitary adenomas and multiple endocrine neoplasia syndromes and to establish the important role of neuro-ophthalmologist in those neuroendocrine conditions. It was proved the diversity of neurophthalmological findings in neuroendocrine entities, the important role of ophthalmologist in diagnosis and pursuance of patients with pituitary adenomas and its peremptory role in screening finding associated to 2 B type multiple endocrine neoplasia syndrome(AU)

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.

Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations, including best­corrected visual acuity, slit­lamp examination, fundus examination, assessment of palpebral fissure size, levator function, ocular motility, and cover and forced duction tests. Genomic DNA was extracted from the leukocytes of venous blood samples collected from the two families and from 200 unrelated control subjects from the same population. Coding exons of the KIF21A gene were amplified using polymerase chain reaction analysis and sequenced directly in the two probands. The detected mutations were further analyzed in all available family members and the unrelated control subjects. A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in the two families, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. Among the three affected family members with CFEOM1, differences were observed with regard to the presence of aberrant eye movement. The results indicated that, in the patients with CFEOM1 and CFEOM3, the disease was caused by the same KIF21A gene mutation. The KIF21A gene may be a major disease­causing gene for Chinese patients with CFEOM3. Phenotypic heterogeneity was observed in the patients with CFEOM1.

Assessment of the prevalence and risk factors of ophthalmoplegia among diabetic patients in a large national diabetes registry cohort.

BACKGROUND: There are limited data on the epidemiology and risk factors of ophthalmoplegia among diabetic patients. This study aims to determine the prevalence and important risk factors related to ophthalmoplegia among diabetic patients. METHODS: This is an observational registry-based study using the Saudi National Diabetes Registry (SNDR) database to select diabetic patients regardless of their diabetes type. A total of 64,351 Saudi diabetic patients aged more than 18 years and registered in SNDR between January 2000 and December 2010 were analyzed to identify ophthalmoplegic cases. Demographic, clinical, and biochemical parameters were studied and STROBE guidelines were used to design and report the results of this study. RESULTS: The overall prevalence of ophthalmoplegia cases was 0.32 %, further distributed into: 53.11 %, 36.36 %, and 2.8 % for cranial nerves VI, III, IV palsies respectively. Ophthalmoplegic cases were predominantly type 2 diabetic males with older age and longer diabetes duration. The most important and significant risk factors were age ≥ 45 years, diabetes duration ≥ 10 years, male gender and presence of retinopathy and nephropathy. CONCLUSIONS: Ophthalmoplegia is a rare entity associated mainly with type 2 diabetes. Clinicians have to consider its risk factors when screening or planning for prevention of this condition.

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

OBJECTIVE: The sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) syndrome is a subgroup of mitochondrial chronic progressive external ophthalmoplegia (CPEO)-plus disorders associated with multiple mitochondrial DNA (mtDNA) deletions. There is no systematic survey on SANDO in patients with CPEO with either single or multiple large-scale mtDNA deletions. METHODS: In this retrospective analysis, we characterised the frequency, the genetic and clinical phenotype of 107 index patients with mitochondrial CPEO (n=66 patients with single and n=41 patients with multiple mtDNA deletions) and assessed these for clinical evidence of a SANDO phenotype. Patients with multiple mtDNA deletions were additionally screened for mutations in the nuclear-encoded POLG, SLC25A4, PEO1 and RRM2B genes. The clinical, histological and genetic data of 11 patients with SANDO were further analysed. RESULTS: None of the 66 patients with single, large-scale mtDNA deletions fulfilled the clinical criteria of SANDO syndrome. In contrast, 9 of 41 patients (22%) with multiple mtDNA deletions and two additional family members fulfilled the clinical criteria for SANDO. Within this subgroup, multiple mtDNA deletions were associated with the following nuclear mutations: POLG (n=6), PEO1 (n=2), unidentified (n=2). The combination of sensory ataxic neuropathy with ophthalmoparesis (SANO) was observed in 70% of patients with multiple mtDNA deletions but only in 4% with single deletions. The combination of CPEO and sensory ataxic neuropathy (SANO, incomplete SANDO) was found in 43% of patients with multiple mtDNA deletions but not in patients with single deletions. CONCLUSION: The SANDO syndrome seems to indicate a cluster of symptoms within the wide range of multisystemic symptoms associated with mitochondrial CPEO. SANO seems to be the most frequent phenotype associated with multiple mtDNA deletions in our cohort but not or is rarely associated with single, large-scale mtDNA deletions.

A comparison of benign and inflammatory manifestations of Tolosa-Hunt syndrome.

BACKGROUND: Tolosa-Hunt syndrome (THS) manifests as a benign or an inflammatory type disease. The nosography differences between these types remain to be elucidated. We aimed to analyze and compare the clinical presentations of benign and inflammatory THS. METHODS: The ward patients who presented with THS from January 1990 to May 2011 were retrospectively reviewed. THS was diagnosed according to the recommendations of the International Headache Society. RESULTS: Of the 53 THS cases (49 patients), 30 (56.6%) were classified as benign and 23 (43.4%) as inflammatory THS. There were strong similarities between the groups in terms of clinical manifestations, laboratory findings, responses to glucocorticoid treatment, and outcomes. However, patients with inflammatory THS tended to be younger (mean age, 43.4 years; P 0.05) and have optic nerve dysfunction (56.5%; P 0.05) and longer disease duration (2.3 ± 1.0 months; P 0.05) compared to those with benign THS (mean age, 56.4 years; mean disease duration, 1.6 ± 0.7 months). The patients with additional involvement of both the optic nerve and the second division of the trigeminal nerve experienced a longer disease duration ( P 0.05). Additionally, patients with orbital pseudotumors had diplopia that responded poorly to treatment with glucocorticoids ( P 0.05). High-dose (>0.5 mg/kg/day) and low-dose (≤0.5 mg/kg/day) prednisolone were equally effective in relieving symptoms in both groups ( P > 0.05). CONCLUSION: Benign and inflammatory THS were highly similar in terms of nosography. The responses to glucocorticoid treatment were generally good except in patients with orbital pseudotumors.

Incidence of pupillary involvement, course of anisocoria and ophthalmoplegia in diabetic oculomotor nerve palsy.

AIMS: To derive a reliable estimate of the frequency of pupillary involvement and to study the patterns and course of anisocoria in conjunction with ophthalmoplegia in diabetes-associated oculomotor nerve palsy. MATERIALS AND METHODS: In this prospective analytical study, standardized enrolment criteria were employed to identify 35 consecutive patients with diabetes-associated oculomotor nerve palsy who were subjected to a comprehensive ocular examination. Standardized methods were used to evaluate pupil size, shape, and reflexes. The degree of anisocoria, if present and the degree of ophthalmoplegia was recorded at each visit. RESULTS: Pupillary involvement was found to be present in 25.7% of the total number of subjects with diabetic oculomotor nerve palsy. The measure of anisocoria was < 2 mm, and pupil was variably reactive at least to some extent in all cases with pupillary involvement. Majority of patients in both the pupil-involved and pupil-spared group showed a regressive pattern of ophthalmoplegia. Ophthalmoplegia reversed much earlier and more significantly when compared to anisocoria. CONCLUSIONS: Pupillary involvement in diabetes-associated oculomotor nerve palsy occurs in about 1/4 th of all cases. Certain characteristics of the pupil help us to differentiate an ischemic insult from an aneurysmal injury to the 3 rd nerve. Ophthalmoplegia resolves much earlier than anisocoria in diabetic oculomotor nerve palsies.