Impaired Ocular Motility Research Articles

Orbital Solitary Fibrous Tumors: A 20-Year Cases Series Study in a Single Center.

To investigate the clinical manifestations, imaging, pathology, and prognosis of orbital solitary fibrous tumors (OSFTs). In addition, the surgical incisions and the treatment outcomes were also evaluated. A total of 89 patients with pathologically confirmed primary OSFTs were enrolled onto this study. Clinical and histopathological characteristics, imaging data, treatment modalities, and follow-up time, including tumor recurrence and death, were documented. The outcome measures included overall survival and disease-free survival time. Among 89 eligible cases, the median age of presentation was 39 years (range: 5-80 years) at the initial diagnosis. The most common presenting symptom was painless proptosis (54, 60.67%), then palpable mass (31, 34.83%), swelling (29, 32.58%), and impaired ocular motility (27, 30.34%). Tumor-related severe impaired vision was found in 11 patients (12.36%), including no-light-perception blindness (6, 6.74%), light-perception (2, 2.25%), and hand-movement (1, 1.12%). The preoperative imaging (computed tomography and magnetic resonance imaging) accurate diagnostic rate of OSFTs was 17.98% (16, 95% CI: 0.098-0.261), and misdiagnosis rate was 25.84% (23, 95% CI: 0.166-0.351). Grossly intact masses were excised for 27 patients (30.34%). Among the 89 patients, 33 (37.08%) were recurrences, and the median of these recurrent patients' interval between the first and the last operation was 7.33 years (range: 0.12-29.69 years). In 81 patients with complete follow-up data, the median course of the disease was 9.64 years (range: 1.55-33.65 years) from the onset OSFT. The overall survival rate of the 81 patients was 93.83% with a median course of 8.48 years (range: 0.38-30.4 years) from diagnosis of OSFT, and the disease-free survival rate of 81 patients was 91.36% with a median follow-up of 4.76 years (range: 0.08-19.22 years) after the last surgery. Of all the 81 patients, 5 patients (6.17%) developed local recurrence, and 3 patients (3.70%) died from tumor-related diseases, including pulmonary metastasis (2, 2.47%) and complications from intracranial lesions (1, 1.23%). Ten patients (11.24%) received postoperational radiation therapy, including 125I seeds implantation (5, 6.17%) and external beam radiotherapy (5, 6.17%), and remained no recurrence. In this series, OSFTs showed long courses and easy recurrence. Although it was very important to choose a proper surgical incision for intact resection of OSFTs at the initial surgery to avoiding recurrence, preoperative imaging is of very limited use since it is not able to identify OSFTs effectively. Postoperative radiotherapy may be beneficial to reduce the recurrence of OSFTs with malignant pathologic features.

Magnetic resonance imaging reveals possible cause of diplopia after Baerveldt glaucoma implantation.

PurposeTo assess if ocular motility impairment, and the ensuing diplopia, after Baerveldt Glaucoma device (BGI) implantation, is related to the presence of a large fluid reservoir (bleb), using Magnetic Resonance Imaging (MRI).MethodsIn a masked observational study (CCMO-registry number: NL65633.058.18), the eyes of 30 glaucoma patients with (n = 12) or without diplopia (n = 18) who had previously undergone BGI implantation were scanned with a 7 Tesla MRI-scanner. The substructures of the BGI-complex, including both blebs and plate, were segmented in 3D. Primary outcomes were a comparison of volume and height of the BGI-complex between patients with and without diplopia. Comparisons were performed by using an unpaired t-test, Fisher’s Exact or Mann-Whitney test. Correlations were determined by using Spearman correlation.ResultsThe median volume and height of the BGI-complex was significantly higher in patients with compared to patients without diplopia (p = 0.007 and p = 0.025, respectively). Six patients had an excessively large total bleb volume (median of 1736.5mm3, interquartile range 1486.3–1933.9mm3), four of whom experienced diplopia (33% of the diplopia patients). Fibrotic strands through the BGI plate, intended to limit the height of the bleb, could be visualized but were not related to diplopia (75% versus 88%; p = 0.28).ConclusionsWith MRI, we show that in a significant number of diplopia cases a large bleb is present in the orbit. Given the large volume of these blebs, they are a likely explanation of the development of diplopia in at least some of the patients with diplopia after BGI implantation. Additionally, the MR-images confirm the presence of fibrotic strands. As these strands are also visible in patients with a large bleb, they are apparently not sufficient to restrict the bleb height.

Determinants of visual and endocrinological outcome after early endoscopic endonasal surgery for pituitary apoplexy.

Patients diagnosed with pituitary apoplexy and presenting with acute visual deterioration require urgent surgical resection. This is also commonly associated with pituitary hypopituitarism that requires hormonal replacement for correction. This study was undertaken to evaluate the clinical recovery of 45 patients diagnosed with symptomatic pituitary apoplexy who underwent early (within 72 h of symptom onset) endoscopic transsphenoidal surgical resection with an emphasis on visual, ocular craniopathy, and endocrinological outcome. This is a retrospective analysis of a consecutive series of patients diagnosed with pituitary apoplexy between 2011 and 2020 treated by early (within 72 h of symptom onset) endoscopic transsphenoidal surgical resection. All tumors were histologically proven as pituitary adenomas. Clinical and neuro-ophthalmological examinations, imaging studies, and endocrinological evaluation were retrospectively reviewed. Patients with a minimum of 6 months follow-up were included in the study. The influence of patients' demographics, extent of visual and ocular motility impairment, preoperative endocrinological dysfunction, tumor size and extent, degree of resection, and surgical complications were analyzed as potential prognostic factors for recovery. Forty-five patients were included in this retrospective study. Ages ranged from 27 to 57 years (mean: 42 years). All patients presented with headache and variable degrees of visual loss and visual field deficit. Ophthalmoplegia was present in 22 (48.9%) patients with 17 (37.8%) having bilateral ocular cranial nerve palsy. All patients had variable degrees of endocrinological deficiencies. All patients showed evidence of low cortisol, 14 (31.1%) showed hypothyroidism and 11 (24.4%) showed hypogonadism. There was evidence of hyperprolactinemia in 16 (35.6%) patients. All patients harbored a pituitary macroadenoma. Tumor resection was complete in 33 (73%) of patients, with residual tumor related to cavernous sinus or retrosellar extension. Operative complications were mainly related to short-term nasal complications occurring in 14 (31%) patients. Cerebrospinal fluid leak requiring revision surgery occurred in only one patient harboring a modified SIPAP Grade 3s tumor. Transient diabetes insipidus occurred in 9 (20%) patients, with 2 (4.4%) requiring long-term hormonal replacement. The mean follow-up was 25 months. Baseline visual improvement was achieved in 39 (86.7%) patients. Ocular cranial nerve palsy showed complete recovery in 17 (77.2%) patients. Endocrine follow-up showed that patients with panhypopituitarism (11 [24.4%]) failed to recover. The current surgical series showed safety in terms of low complication rate and efficacy in terms of clinical outcome. The significant prognostic factor related to visual recovery was the degree of preoperative visual deficit. Recovery of ocular cranial neuropathy showed a higher recovery rate when it was unilateral as opposed to bilateral. Pituitary hormonal recovery was less favorable with pituitary panhypopituitarism being a poor prognostic factor.

Post-COVID simultaneous onset of Graves' disease and ocular myasthenia gravis in a patient with a complex ocular motility impairment.

A 74-years-old man experienced severe diplopia one month after recovery from an uncomplicated SARS-CoV-2 infection. Neurological examination was normal whereas ophthalmological examination showed bilateral exophthalmos with a complex ocular motility disorder characterized by a pseudo-internuclear ophthalmoplegia after fatigue associated to impairment of elevation and infraduction. Antibodies against TSH and acetylcholine receptors were positive; subsequent hormonal tests, ultrasonography of thyroid gland, single fiber electromyography and orbit MRI confirmed the diagnosis of concomitant Graves Disease (GD) and Myasthenia Gravis (MG). The coexistence between MG and GD is not rare but simultaneous onset after viral infection is very unsual. The complex ocular disorder simulated a deficit of the oculomotor nerve nuclei, and on clinical examination it posed some problems in the diagnosis. We suggest that recent SARS-COV-2 infection may have triggered a complex autoimmune response.

Orbital Inflammation Caused by Aminobisphosphonates.

The aim of this review was to describe orbital inflammation secondary to aminobisphosphonates by analyzing demographic data, clinical presentation, and treatment of the disease. This is a narrative literature review. The search was performed using databases such as Ovid/MEDLINE and COCHRANE. The searches were limited to papers in the English language. We found 43 cases of orbital inflammation due to aminobisphosphonates. Zoledronate was the drug most associated with orbital side effects. Clinical presentation was evident by unilateral involvement (89%), palpebral edema (88%), conjunctival congestion (81%), chemosis (79%), ocular pain (77%), ocular motility impairment (65%), proptosis (56%), and blurred vision (39%). It can affect both eyes (11%) and is accompanied by anterior uveitis (23%). Orbital inflammation secondary to aminobisphosphonates is a severe side effect. Clinically, it cannot be distinguished from idiopathic inflammation of the orbit. Therefore, it is important to rule out previous drug exposure. Timely treatment is vital to expect a favorable outcome, with systemic corticosteroids being the treatment of choice.

Quantification of Global Ocular Motility Impairment in Graves' Orbitopathy by Measuring Eye Muscle Ductions

Quantification of Global Ocular Motility Impairment in Graves' Orbitopathy by Measuring Eye Muscle Ductions

Surgical management of isolated orbital floor and zygomaticomaxillary complex fractures with focus on surgical approaches and complications

Zygomaticomaxillary complex (ZMC) and orbital blow out fractures are commonly encountered midfacial fractures that may result in aesthetic and functional impairment. This retrospective study reports on the surgical treatment and associated postoperative complications in our patient collective. We evaluated 100 patients who underwent open reduction and internal fixation of midfacial fractures between 2010 and 2015. Preoperative clinical features, surgical technique and postoperative complications were analyzed. Surgery was performed with a mean latency of 7 days after trauma. We used titanium mesh and polydioxanone sheets to reconstruct the orbital floor. Most ZMC fractures were stabilized with two point fixation with titanium plates. Preoperative symptoms were present in 70 patients (70%). Infraorbital hypesthesia occurred in 49 patients, diplopia in 41 patients and ocular motility impairment in 24 patients. Postoperative symptoms persisted during a mean follow-up time of 4.5 months in 47 patients (47%) showing infraorbital hypesthesia in 24%, diplopia in 17%, ectropion in 7% and ocular motility impairment in 4%. Complications requiring revision were retrobulbar hematoma 3% (n = 3), ectropion 3% (n = 3), diplopia 1% (n = 1), exophthalmos 1% (n = 1), implant dislocation 1% (n = 1), implant discomfort 2% (n = 2), persisting fracture dislocation 1% (n = 1). All patients recovered without significant impairment. Surgery is required in the majority of the patients with midfacial fractures. Among others ectropion is challenging due to its aesthetic and functional impact on patients. To prevent ectropion, additional canthopexy or the transconjunctival surgical approach are reasonable options in selected cases. Level of Evidence: Level V, descriptive study.AbbreviationsCTcomputed tomographyOForbital floorPDSpolydioxanoneORIFopen reduction and internal fixationZMCzygomaticomaxillary complex

In-Office Sutureless Correction of Prolapsed Subconjunctival Orbital Fat.

To describe a minimally invasive, sutureless, small incision surgical technique for the treatment of subconjunctival orbital fat prolapse (SOFP) performed using local anesthesia in an office setting. Retrospective study of the surgical outcome of 45 patients with either bilateral or unilateral SOFP treated by a single surgeon (R.S.) between July 2010 and February 2015. Forty-five patients (39 male, 6 female) had a mean age of 67 years. Fat prolapse was bilateral in 23 patients (51%). A total of 68 eyes were operated on. All surgeries were without any intra- or postoperative complications such as infection, dry-eye symptoms, ocular motility impairment, or recurrence with a mean follow up of 37 months. All patients had a favorable postoperative cosmetic improvement. The authors propose an office-based, cost-effective, minimally invasive, sutureless technique for treating SOFP with local anesthesia in a safe and effective manner. The lack of complications or recurrence with an adequate follow-up period following this technique is encouraging. Surgeons should consider this technique in the surgical correction of SOFP.

Orbital tumors: A prospective study of 95 cases

Background: A wide variety of tumors and pseudotumors can involve the orbit. Although the incidence of orbital tumors is relatively low, the diagnosis and the treatment strategy for such tumors are of great concern to neurosurgeons and ophthalmologists. Objectives: The main aim of this study is to determine the distribution of patient age, sex, pathology, origin, and location of orbital tumors for optimum management because the delay in the diagnosis and treatment is the most preventable cause of morbidity and mortality. Materials and Methods: In this study, 95 cases of orbital tumors are studied prospectively during 10 years' period in the Hilla Teaching Hospital in Babylon-Iraq from 2008 to 2018. The parameters dealt with in this study included; the distribution of patient age and sex, clinical manifestations, investigations, pathology, origin of tumors and tumor location in the orbit, management, surgical procedures, and mortality in 95 patients (aged from 6 months to 75 years, the mean age is 29.8). Results: In this study, the highest age group incidence of orbital tumors is in the first decade of life which constitutes (24.2%), the second peak is in the fourth decade of life which constitutes (17.9%). 42 (44.2%) of the patients are males and 53 (55.8%) of the patients are females. Among the 95 cases, 76 (80%) are primary orbital tumors, 15 (15.8%) are secondary orbital tumors (tumors that originating from contiguous regions), and 4 (4.2%) are metastatic orbital tumors. Orbital tumors location; 83 (87.4%) are extraconal and 12 (12.6%) are intraconal. The two most common orbital tumors are dermoid cyst (27.4%) and pseudotumor (16.8%). Overall mortality is seven patients (7.4%). Conclusion: Orbital tumors are a relatively rare and challenging group of tumors. The age of onset, state of vision, tumor location in the orbit and other radiological findings provide the most important information for the diagnosis of orbital tumor prior biopsy or surgical resection and to make decision about other further treatment modality. For any patient complain from visual loss, proptosis, and impaired ocular motility, it is better to undergo magnetic resonance imaging and computed tomography-scan imaging to detect or exclude intraorbital or intracranial diseases.

Severe cranial neuropathies caused by falls from heights in children.

Falls from heights are the most common traumatic event associated with emergency department visits in children. This study investigated the incidence and clinical course of cranial neuropathies caused by falls from heights in children. The computerized records of a tertiary pediatric medical center were searched for all patients admitted to the emergency department in 2004-2014 with a head injury caused by falling from a height. Those with cranial neuropathies involving optic and eye-motility disturbances were identified, and their clinical, imaging, and outcome data were evaluated. Of the estimated 61,968 patients who presented to the emergency department during the study period because of a fall, 18,758 (30.3%) had head trauma. Only 12 (seven boys, five girls, average age 6.7years) had a visual disturbance. Eight were diagnosed with traumatic optic neuropathy, one after a 6-month delay, including two with accompanying cranial nerve (CN) III injuries. Five patients had anisocoria or an abnormal pupillary response to light at presentation, one patient had CN VI paralysis and temporary vision loss, and one patient had an isolated CN III injury diagnosed on follow-up. Visual improvement varied among the patients. Cranial neuropathies due to falls from heights are rare in children and are associated with high visual morbidity. Vision or ocular motility impairment, especially monocular vision loss, may be missed during acute intake to the emergency department, and a high index of suspicion is needed. Assessment of the pupillary response to light is essential.

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. All the cases with a mendelian inheritance are syndromic forms, which include cardiac defects (in Holt-Oram syndrome), bone marrow failure (in Fanconi anemia), platelet deficiency (in thrombocytopenia-absent-radius syndrome), ocular motility impairment (in Okihiro syndrome). The genetics of radial deficiencies is complex, characterized by genetic heterogeneity and high inter- and intra-familial clinical variability: this review will analyze the etiopathogenesis and the genotype/phenotype correlations of the main radial deficiency disorders in humans.

Isolated orbital floor fractures in the paediatric patient: case series and review of management

Orbital injuries warranting surgical intervention are infrequent in the paediatric population, but ‘blowout, trap door’ fractures are unique in children and may constitute a relative surgical emergency. A retrospective review of isolated orbital floor fractures at the Royal Children's Hospital of Melbourne over a 10-year period was undertaken to evaluate the outcome of those patients who required surgical exploration. Twenty-two patients with documented isolated orbital floor injuries were studied. Preoperative signs and symptoms including diplopia, ocular motility, paresthesia, enophthalmos, hypoglobus, and the presence of nausea and vomiting were recorded. Thirteen patients underwent non-surgical management and nine patients underwent surgical exploration of the orbital floor via a trans-subconjunctival approach to reduce any entrapped soft tissue. Postoperative follow-up of these patients varied between 1 month and 18 months and none had any visual disturbance or diplopia in central gaze; however, two patients experienced diplopia in upward gaze at follow-up, although this did not impair the quality of life. Due to the risk of permanent soft tissue damage from the entrapment of the periorbita with or without extraocular muscle tissue, it is recommended that exploration be undertaken as soon as possible to minimize the risk of persistent diplopia due to impaired ocular motility.

Acute onset incomitant image disparity modifies saccadic and vergence eye movements.

New-onset impairment of ocular motility will cause incomitant strabismus, i.e., a gaze-dependent ocular misalignment. This ocular misalignment will cause retinal disparity, that is, a deviation of the spatial position of an image on the retina of both eyes, which is a trigger for a vergence eye movement that results in ocular realignment. If the vergence movement fails, the eyes remain misaligned, resulting in double vision. Adaptive processes to such incomitant vergence stimuli are poorly understood. In this study, we have investigated the physiological oculomotor response of saccadic and vergence eye movements in healthy individuals after shifting gaze from a viewing position without image disparity into a field of view with increased image disparity, thus in conditions mimicking incomitance. Repetitive saccadic eye movements into a visual field with increased stimulus disparity lead to a rapid modification of the oculomotor response: (a) Saccades showed immediate disconjugacy (p < 0.001) resulting in decreased retinal image disparity at the end of a saccade. (b) Vergence kinetics improved over time (p < 0.001). This modified oculomotor response enables a more prompt restoration of ocular alignment in new-onset incomitance.

Retinitis Pigmentosa: Disease Mechanisms, Diagnosis, and Therapies.

Retinitis pigmentosa (RP) is the most genetically and phenotypically heterogeneous disorder, characterized by the progressive death of photoreceptor cells. In recent years, huge advances have been made in understanding the disease mechanisms, identifying causal genes, and developing therapeutic strategies for this disorder. This special issue updates the knowledge of RP and presents original clinical and experimental research. Photoreceptor cell death is known to be characterized at the early stage by caspase dependent or independent apoptosis and at late stage by necrosis, but the molecular mechanisms are not fully understood. In this special issue, S. R. Patnaik et al. review the functional role of RPGR protein complex in the pathogenesis of RP. Disease mechanisms are further elucidated in mouse (Q. Zheng et al.) and zebrafish models (Y. Liu et al. and S. Akhtar et al.). R. Migliorini et al. discuss RP associated syndromes, such as impaired ocular motility. E. Strobbe et al. report a correlation between ocular inflammation and endothelin (ET-1) plasma levels in early RP patients and suggest that anti-inflammatory therapy may slow the progression of RP. With the development of new technologies such as next generation sequencing (NGS), more and more mutant genes that cause retinal degenerative diseases have been found. B. Gong et al. reported here a recessive RDH12 mutation identified by exome sequencing in severe early onset RP patients, which further verifies the application of NGS for molecular diagnosis of RP. Meanwhile, many naturally occurring or genetically engineered animal models have shown gene mutations and phenotypes similar to human inherited retinal diseases, which has led to the development of a variety of therapeutic strategies for those inherited diseases regarded traditionally as incurable. Following the success of Leber congenital amaurosis 2 (LCA2) gene therapy clinical trials, more and more vector based gene therapy clinical trials have been performed on a variety of retinal conditions including RP with MERTK mutation. AAV-mediated gene replacement therapy shows great potential to treat patients in the early stage of the disease. Gene replacement therapy combined with other approaches like treatment with histone deacetylases inhibitors (reviewed by H. Zhang et al.) or antiapoptotic/inflammatory chemicals or natural products, which can extend the therapeutic window in middle to late stages of those patients, is a potentially promising strategy for improving photoreceptor function and significantly slowing the process of retinal degeneration. Cell replacement is a promising therapeutic strategy for RP. Successful cell replacement treatments have been done in RP animal models, providing hope for RP patients and their families. Chinese medicine has a long history in the treatment of RP; combinational treatment of Chinese medicine with Western medicine may further reduce the progression of RP (reviewed by J. Xu and Q. Peng). Xinhua Shu Ji-jing Pang Houbin Zhang David Mansfield

Correlation between the Time to Surgery and That to Recovery from Postoperative Diplopia Based on a Single-Center, Retrospective Experience: A Case Series of 11 Patients

BackgroundWe conducted this study to identify the correlation between the time to surgery and that to recovery from postoperative diplopia.MethodsIn the current single-center, retrospective study, we enrolled a total of 11 patients (n=11) who were diagnosed with white-eyed blowout fracture and underwent surgical operation at our institution between January 2009 and January 2013. To identify the correlation between the time to surgery and that to recovery from postoperative diplopia, we divided our patients into the three groups: the group A (time to surgery, <2 days) (n=4), the group B (time to surgery, 3-7 days) (n=4) and the group C (n=3) (time to surgery, 8-60 days). Then, we compared such variables as sex, age, signs of soft tissue injury, preoperative nausea/vomiting, the degree of preoperative diplopia and the side of the fracture on computed tomography scans between the three groups.ResultsIn our series, mean age at the onset of trauma was nine years (range, 5-16 years); the mean time to surgery was 30 days (range, 2-60 days); and the mean follow-up period was one year (range, 6 months-2 years). Our results showed that the time to recovery was shorter in the patients with a shorter time to surgery.ConclusionsWe found that the degree of recovery from impaired ocular motility and diplopia was the highest in the patients undergoing surgical operations within 48 hours of the onset of trauma with the reconstruction of the fracture sites using implant materials.

A randomised controlled trial to compare the clinical and cost-effectiveness of prism glasses, visual search training and standard care in patients with hemianopia following stroke: a protocol

IntroductionHomonymous hemianopia is a common and disabling visual problem after stroke. Currently, prism glasses and visual scanning training are proposed to improve it. The aim of this trial is to...

Results of diplopia and strabismus in patients with severe thyroid ophthalmopathy after orbital decompression

Purpose:It has been frequently stated that the orbital decompression, in patients with thyroid ophthalmopathy, does not usually improve extraocular muscles function and that after the operation there is often a deterioration of these functions. The purpose of this article is evaluation of extraocular muscles function after applying personal method of 3 wall orbital decompression.Materials And Methods:Retrospective review of case records of 119 patients with severe thyroid ophthalmopathy seen and treated by the author between December 1986 and December 2010. All patents underwent 3 wall orbital decompression combined with removal of the periorbital, intraorbital and retrobulbar fat. Correction of coexistent eyelid retraction and deformities were also performed.Results:Comparison of preoperative and postoperative results was conducted in 65 patients three months after 3 wall decompression. All patients showed a significant reduction of exophthalmos [5-11 mm, 7.2 mm on average], reduction of intraocular pressure, marked improvement in ocular muscle function as well as considerable reduction in or disappearance of subjective symptoms. There were no cases of subsequent impairment of ocular motility. Strabismus surgery was performed in 6 patients with residual diplopia. There was an improvement in vision in 68% patients who had impaired vision before the operation. Less evident relapse of exophthalmos was recorded in 3 cases only and only one patient required unilateral reoperation.Conclusion:It can be concluded that this method of orbital decompression is logical, based on an understanding of the pathology, has less complication rates, is relatively easy to perform, gives very good functional and aesthetic long term results and allows rapid recovery.

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12

Sir, in 2005, we described a new autosomal recessive myopathy with external ophthalmoplegia in 16 subjects of eight families from a large and highly inbred Arab community near Jerusalem (Lossos et al. , 2005). Characteristic clinical features of this disorder include conjugate non-restrictive ocular motility impairment without ptosis, mild facial and limb muscle weakness and scoliosis. The major pathological finding on skeletal muscle biopsy was marked Type 1 fibre predominance. A genome-wide search for areas of homozygosity identified linkage with chromosome 17p13.1-p12 markers defining a critical region of 12 cM encompassing an ordered cluster of six myosin heavy-chain genes. Direct sequencing of the MYH2 , reported by that time to be involved in autosomal-dominant myosin heavy-chain (MyHC) IIa myopathy (Martinsson et al. , 2000), showed no exonic mutations, and the genetic cause of this disorder remained unknown. Since then, we have diagnosed six additional …

Management of persistent diplopia after surgical repair of orbital fractures

To present the results of management of patients with persistent diplopia after orbital reconstructive surgery with respect to the type of ocular motility impairment pattern. All patients referred during a 2-year period because of persistent diplopia after surgical repair of orbital fracture were categorized according to the degree and pattern of ocular motility impairment on the basis of orthoptic examination 3-4 weeks postoperatively. Patients were followed for a mean period of 10.5 months (range, 6-12 months), during which adequate treatment was implemented. A total of 52 patients were included in the study (45 males; mean age, 41.8 ± 16.6 years). Most could be divided into 1 of 4 groups according to the type of ocular motility impairment. The follow-up orthoptic examination revealed resolution of diplopia in 9 patients (15%) and persistent but unbothersome diplopia in 26 (43.4%). Significant diplopia was treated conservatively in 3 patients (5%) and with strabismus surgery in 14 (23.3%) cases. The results of this study indicate that in most cases of persistent diplopia after reconstructive surgery for orbital fractures, symptoms resolve over time without treatment; nevertheless, strabismus surgery is unavoidable in some cases.

Efficacy and Safety of Orbital Radiotherapy for Graves' Orbitopathy

Graves' orbitopathy (GO), when moderate-to-severe and active, requires medical treatment. High-dose glucocorticoids (GCs) represent the first-line treatment. Orbital radiotherapy (OR) has been used for decades, alone or in combination with GCs, but opinions on its efficacy are conflicting. The major source of data acquisition included PubMed strategies. Original articles, systemic reviews and metaanalyses, and other relevant citations were screened. Randomized clinical trials evaluating the efficacy of OR are limited. However, available data suggest that OR is a safe treatment, which seems to be effective particularly on ocular motility impairment, especially if it is of recent onset. OR seems to be effective also on soft tissue changes, whereas exophthalmos and long-standing extraocular muscle dysfunction are poorly affected. OR efficacy on dysthyroid optic neuropathy is uncertain. The combination of OR and oral GCs is more effective than either treatment alone, suggesting a synergistic effect of the two treatments. There is no available evidence that the addition of OR to iv GCs provides an advantage over iv GCs alone. OR can be considered a safe second-line treatment for patients with moderate-to-severe and active GO but less effective than GCs. A possible strategy may include its use in combination with iv GCs in patients whose GO has only partially responded to a first-course of iv GCs alone and is still active. Future studies might address the question of whether the combination of iv GCs and OR might represent the first-line treatment for active GO.