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Neuro-Ophthalmic Literature Review 神经眼科文献综述
IF 0.8
Neuro-Ophthalmology Pub Date : 2022-05-04 DOI: 10.1080/01658107.2022.2058803
D. Bellows, N. Chan, John J. Chen, Hui-Chen Cheng, P. Macintosh, M. Vaphiades, Xiaojun Zhang
{"title":"Neuro-Ophthalmic Literature Review","authors":"D. Bellows, N. Chan, John J. Chen, Hui-Chen Cheng, P. Macintosh, M. Vaphiades, Xiaojun Zhang","doi":"10.1080/01658107.2022.2058803","DOIUrl":"https://doi.org/10.1080/01658107.2022.2058803","url":null,"abstract":"is an inflammatory demyelinating disease affecting the central nervous system, which most commonly causes optic neuritis, transverse myelitis, and area postrema syndrome. Antibodies directed against aquaporin 4, a water channel expressed on the astrocytic membrane, are detected in approximately 80% of cases. In this article, the authors discuss a case of a 76-year-old woman with a 2-month history of confusion, dysar-thria, and progressive bilateral leg weakness, which was associated with adenocarcinoma. They conclude that signs of NMOSD in elderly patients should arouse the suspicion of a paraneoplastic aetiology. The authors report an 11-year-old girl who noted gradual visual loss in the right eye for 1 year to 20/100 in the right eye, compared with 20/ 20 in the left eye, with subfoveal yellow deposits in both eyes. Optical coherence tomography, electro-oculography, electro-retinography and colour fundus photographs illustrate the findings,which were in-keeping with Best’s disease, the second most common hereditary macular dystrophy. It is char-acterised by the accumulation of lipofuscin-like materials on the retinal pigment epithelium cell-photoreceptor interface. The disorder’s associated mutations may contribute to apoptosis of the retinal pigment epithelial cells by targeting Caspase-3 (a protein encoded by the CAPS3 gene) that may be one of the mechanisms in bestrophinopathies. and T1-WI A chi-square test used compare both sequences and the inter-rater agreement was calculated. Results : Thirty-five magnetic resonance imaging (MRI) sessions were performed before treatment, including 19 post-contrast FLAIR in 17 patients and 25 post-contrast T1-WIs in 19 patients. In terms of patients, LME was on all 17 post-contrast FLAIR images versus post-contrast T1-WIs < In LME on all post-contrast FLAIR versus 16/25 of post-contrast T1-WIs < LME disseminated both and infratentorial post-contrast FLAIR, compared post-contrast Inter-rater","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"94 1","pages":"208 - 214"},"PeriodicalIF":0.8,"publicationDate":"2022-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85373639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neuro-Ophthalmic Literature Review 神经眼科文献综述
IF 0.8
Neuro-Ophthalmology Pub Date : 2022-03-04 DOI: 10.1080/01658107.2022.2030591
D. Bellows, John J. Chen, J. N. Nij Bijvank, M. Vaphiades, Xiaojun Zhang
{"title":"Neuro-Ophthalmic Literature Review","authors":"D. Bellows, John J. Chen, J. N. Nij Bijvank, M. Vaphiades, Xiaojun Zhang","doi":"10.1080/01658107.2022.2030591","DOIUrl":"https://doi.org/10.1080/01658107.2022.2030591","url":null,"abstract":"Neuro-Ophthalmic Literature Review David A. Bellows, John J. Chen, Jenny A. Nij Bijvank, Michael S. Vaphiades, and Xiaojun Zhang Functional vision disorders in adults: A paradigm and nomenclature shift for ophthalmology Raviskanthan S, Wendt S, Ugoh PM, Mortensen PW, Moss HE, Lee AG. Functional vision disorders in adults: a paradigm and nomenclature shift for ophthalmology. Surv Ophthalmol. 2022;67(1):8– 18. doi.org/10.1016/j.survophthal.2021.03.002 It is not uncommon for a patient to present with vision loss and no clinical findings. This disorder has gone by many names including non-organic vision loss, functional vision loss, non-physiologic vision loss, psychogenic vision loss, psychosomatic vision loss, etc. In this article the authors review the current terminology and literature pertaining to this disorder and present an approach to its diagnosis and management. The authors propose the use of a unifying term, functional vision disorders (FVD), for this subset of patients with functional neurological symptoms disorders (FND). A thorough examination is a prerequisite to diagnosing FVD since as many as 3% of patient with a FVD are misdiagnosed and as many as 26% to 50% of patients with a functional vision disorder will have a coexistent ophthalmological or neurological disease. The authors review the techniques for diagnosing FVD in patients who present with reduced visual acuity, monocular vision loss, binocular vision loss and visual field loss. Clinicians are often uncomfortable discussing the diagnosis of FVD with their patient since, if handled incorrectly, it can jeopardise the doctor-patient relationship. The authors introduce the SPIKES protocol, first developed by oncologists, as a structured means of delivering unwelcome news to patients in a caring and helpful manner. This review article can serve as a useful resource, especially for physicians in training, for naming, diagnosing, and managing patients with functional vision disorders. David A. Bellows Optic nerve sheath fenestration improves visual function in paediatric patients with severe papilloedema Landau Prat D, Liu GT, Avery RA, Ying G-S, Chen Y, Tomlinson LA, Revere KE, Katowitz JA, Katowitz WR. Recovery of vision after optic nerve sheath fenestration in children and adolescents with elevated intracranial pressure. Am J Ophthalmol, 2021;237:173–182. doi.org/10.1016/j. ajo.2021.11.019 The authors conducted a retrospective study of 14 paediatric patients who underwent optic nerve sheath fenestration for papilloedema at the Children’s Hospital of Philadelphia. Ten (71%) were female and their ages ranged from 8.5 to 17.5. Ten of these patients had a diagnosis of idiopathic intracranial hypertension. Five patients underwent bilateral optic nerve sheath fenestration. Visual acuity improved from 20/138 to 20/68 in the operated eye and from 20/78 to 20/32 in the nonoperated eye. Visual field mean deviation improved from −23.4 dB to −11.5 dB in the operated eye and from −19.8 dB t","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"250 1","pages":"138 - 144"},"PeriodicalIF":0.8,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73340639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neuro-Ophthalmology: Case Based Practice 神经眼科学:基于病例的实践
IF 0.8
Neuro-Ophthalmology Pub Date : 2022-01-01 DOI: 10.1007/978-981-19-4668-4
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引用次数: 0
Neuro-Ophthalmic Literature Review 神经眼科文献综述
IF 0.8
Neuro-Ophthalmology Pub Date : 2021-12-22 DOI: 10.1080/01658107.2021.2009732
D. Bellows, N. Chan, John J. Chen, Hui-Chen Cheng, P. Macintosh, J. N. Nij Bijvank, M. Vaphiades, Xiaojun Zhang
{"title":"Neuro-Ophthalmic Literature Review","authors":"D. Bellows, N. Chan, John J. Chen, Hui-Chen Cheng, P. Macintosh, J. N. Nij Bijvank, M. Vaphiades, Xiaojun Zhang","doi":"10.1080/01658107.2021.2009732","DOIUrl":"https://doi.org/10.1080/01658107.2021.2009732","url":null,"abstract":"Neuro-Ophthalmic Literature Review David A. Bellows, Noel C.Y. Chan, John J. Chen, Hui-Chen Cheng, Peter W MacIntosh, Jenny A. Nij Bijvank, Michael S. Vaphiades, and Xiaojun Zhang The many faces of ocular syphilis: Case-based update of recognition, diagnosis, and treatment Schulz DC, Orr SMA, Johnstone R, Devlin MK, Sheidow TG, Bursztyn LLCD. The many faces of ocular syphilis: Case-based update of recognition, diagnosis, and treatment. Can J Ophthalmol. 2021;56(5):283–293. doi: 10.1016/j.jcjo.2021.01.006. Syphilis has become increasingly prevalent with over 5 million cases occurring, worldwide, in adolescents and young adults. Although occurring primarily in men who have sex with men or those with HIV, the demographic is changing, and the disease is infecting more women and heterosexual men. These patients can present to the ophthalmologist or neuro-ophthalmologist, and it is important that we understand how to make the diagnosis and treat in order to prevent serious sequelae. The authors reviewed the personal records of eight practitioners including specialists in neuroophthalmology, uveitis, retina, and infectious diseases. They captured 26 cases of ocular syphilis and found that four patients were co-infected with HIV and one with chlamydia. Only 12 patients disclosed their risk factors for acquiring the infection and three of these patients were only willing to do so after the diagnosis had been made. There is much confusion regarding the serological testing for syphilis and the authors review the testing algorithm, which includes both Treponemal and non-Treponemal assays, that is used in making the diagnosis, confirming active disease, and monitoring the response to treatment. The authors review the use of both penicillin and ceftriaxone for the treatment of syphilis and emphasise that corticosteroids can be safely used, prior to the diagnosis, in cases where prompt treatment is necessary. David A. Bellows OCTA: NAION vs NTG Kim JA, Lee EJ, Kim TW, Yang HK, Hwang JM. Comparison of optic nerve head microvasculature between normal-tension glaucoma and nonarteritic anterior ischaemic optic neuropathy. Invest Ophthalmol Vis Sci. 2021;62(10):15. doi: 10.1167/ iovs.62.10.15 This cross-sectional study compared the microvasculature of the optic nerve head (ONH) and the peripapillary region between normal tension glaucoma (NTG) and non-arteritic anterior ischaemic optic neuropathy (NAION). Most of the time, the characteristics of the acute phase and disc morphology of NAION are diagnostic for the condition. However, in the non-acute phase, NAION can sometimes present with enlargement of the optic cup with relative preservation of visual acuity or colour vision. Together with retinal nerve fibre layer (RNFL) thinning and visual field defects of similar patterns as glaucoma, it can sometimes pose a diagnostic challenge to ophthalmologists. Interestingly, impaired perfusion of the ONH is considered a potential pathogenic factor in both. NAION is thought","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"11 1","pages":"68 - 74"},"PeriodicalIF":0.8,"publicationDate":"2021-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81095210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Lesson Learnt from a Dural Carotid Cavernous Fistula-induced Superior Ophthalmic Vein Occlusion with Posterior Ischaemic Optic Neuropathy 硬脑膜颈动脉海绵状瘘致眼上静脉阻塞合并后缺血性视神经病变的经验教训
IF 0.8
Neuro-Ophthalmology Pub Date : 2021-11-11 DOI: 10.1080/01658107.2021.2000622
T. Hoang, C. Nguyen, Thanh Thien Huy Ha, P. Subramanian
{"title":"A Lesson Learnt from a Dural Carotid Cavernous Fistula-induced Superior Ophthalmic Vein Occlusion with Posterior Ischaemic Optic Neuropathy","authors":"T. Hoang, C. Nguyen, Thanh Thien Huy Ha, P. Subramanian","doi":"10.1080/01658107.2021.2000622","DOIUrl":"https://doi.org/10.1080/01658107.2021.2000622","url":null,"abstract":"ABSTRACT We report a 64-year-old male patient without any contributory medical history who visited the eye clinic due to right-sided headache for 1 month and then loss of vision for 3 days. The clinical presentation suggested a cavernous sinus syndrome and acute optic nerve ischaemia in his right eye. The left eye was normal. Orbit and brain magnetic resonance (MR) imaging demonstrated restricted diffusion of the posterior orbital segment of the right optic nerve, suggesting an acute posterior ischaemic optic neuropathy. Three-dimensional time-of-flight MR angiography showed high flow in the right cavernous sinus, indicating a carotid cavernous fistula (CCF). In the arterial phase of digital subtraction angiography (DSA), a fistula in the right cavernous sinus was revealed which was fed by meningeal branches from both the external and internal carotid arteries, confirming an indirect CCF. The origin of the right ophthalmic artery was seen, but its branches were not detected. Right common carotid artery DSA showed a superior ophthalmic vein occlusion and the drainage vein of the CCF ran through the inferior petrosal sinus to the internal jugular vein. The right cavernous sinus was embolised using platinum coils and glue to occlude the feeding vessels from the branches of both the external and internal carotid arteries. Post-embolisation imaging showed complete closure of the fistula.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"99 1","pages":"199 - 202"},"PeriodicalIF":0.8,"publicationDate":"2021-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89916663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Evaluation of the Effect of Religious Fasting on Retinal Vessel Density and Retinal Thickness Using Optical Coherence Tomography Angiography 利用光学相干断层扫描血管造影评价宗教禁食对视网膜血管密度和视网膜厚度的影响
IF 0.8
Neuro-Ophthalmology Pub Date : 2021-11-04 DOI: 10.1080/01658107.2021.1995442
Saeed Shokoohi-rad, Nasser Shoeibi, Mohammad Ghasemi Nour, E. Bakhtiari
{"title":"Evaluation of the Effect of Religious Fasting on Retinal Vessel Density and Retinal Thickness Using Optical Coherence Tomography Angiography","authors":"Saeed Shokoohi-rad, Nasser Shoeibi, Mohammad Ghasemi Nour, E. Bakhtiari","doi":"10.1080/01658107.2021.1995442","DOIUrl":"https://doi.org/10.1080/01658107.2021.1995442","url":null,"abstract":"ABSTRACT We conducted this study to assess the effect of religious fasting on intraocular pressure (IOP) as well as retinal parameters and retinal thickness during Ramadan using optical coherence tomography angiography (OCTA) performed on a spectral domain device. All the participants ate a pre-dawn meal and drink, and then fasted for at least 15 hours. We assessed a total of 61 eyes from 31 healthy volunteers with a mean age of 32.87 ± 8.07. A significant decrease was found in the median IOP after fasting at 10.00 mmHg in comparison with the pre-fasting value of 12.00 mmHg (p < .0001). Retinal peri-papillary capillary (RPC) whole image, RPC inside disk, and RPC mean values showed significant decreases after fasting (p = .011, .012, and .032 respectively). RPC whole vessel density (VD), RPC inside VD, and RPC VD mean values also showed significant decreases after fasting period (p = .025, <.0001, and .003, respectively). Religious fasting during the warm season could decrease IOP. It could also reduce the blood flow of the retina, specifically the macula, and the retinal peri-papillary VD.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"78 1","pages":"147 - 153"},"PeriodicalIF":0.8,"publicationDate":"2021-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82022825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation COL4A2突变患者的双侧非动脉性前缺血性视神经病变
IF 0.8
Neuro-Ophthalmology Pub Date : 2021-10-25 DOI: 10.1080/01658107.2021.1992447
Kasim Qureshi, M. Farooq, Avneet Deol, C. Glisson, P. Gorelick
{"title":"Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation","authors":"Kasim Qureshi, M. Farooq, Avneet Deol, C. Glisson, P. Gorelick","doi":"10.1080/01658107.2021.1992447","DOIUrl":"https://doi.org/10.1080/01658107.2021.1992447","url":null,"abstract":"ABSTRACT Non-arteritic anterior ischaemic optic neuropathy (NAION) is a common cause of vision loss in adults and is thought to be due to compromised perfusion to the optic nerve head. Patients with NAION in one eye are at risk of recurrence in the fellow eye. We report a case of sequential, bilateral NAION in a patient who was found to have a COL4A2 mutation. COL4A2 encodes a subunit of the collagen 4 protein, the major component of the human basement membranes, and has several known cerebrovascular and ocular associations.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"20 1","pages":"190 - 193"},"PeriodicalIF":0.8,"publicationDate":"2021-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73747412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Course and Predictors of Visual Outcome of Idiopathic Intracranial Hypertension 特发性颅内高压的病程及视觉预后的预测因素
IF 0.8
Neuro-Ophthalmology Pub Date : 2021-10-13 DOI: 10.1080/01658107.2021.1984540
R. Behbehani, Abdullah Ali, Ashraf Al-Moosa
{"title":"Course and Predictors of Visual Outcome of Idiopathic Intracranial Hypertension","authors":"R. Behbehani, Abdullah Ali, Ashraf Al-Moosa","doi":"10.1080/01658107.2021.1984540","DOIUrl":"https://doi.org/10.1080/01658107.2021.1984540","url":null,"abstract":"ABSTRACT Idiopathic intracranial hypertension (IIH) is a clinical syndrome characterised by headache and papilloedema that can lead to significant visual morbidity. There are few studies in the literature about the visual outcome of IIH. We have reviewed the record of 76 patients with IIH according to the modified Dandy criteria. There was a significant improvement in the Humphrey 24-2 mean deviation (MD) in the study eyes (worse affected eye at presentation) in both the medically treated group (+2.0 dB; from −5.60 dB at baseline to −3.60 dB at final follow-up, p < .01) and in the fellow eyes in the medically treated group (+1.70 dB, from −4.40 dB at baseline to −2.74 dB at final follow-up, p < .01). Higher papilloedema grade (beta −0.66, p < .001) and age (p < .02) were inversely correlated with the final visual field MD in the study eye. The visual outcome for the IIH patients in our study was predominantly favourable, but patients with high-grade papilloedema had a worse visual prognosis and required more aggressive treatment.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"91 1","pages":"80 - 84"},"PeriodicalIF":0.8,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76393419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Neuro-Ophthalmic Literature Review 神经眼科文献综述
IF 0.8
Neuro-Ophthalmology Pub Date : 2021-10-13 DOI: 10.1080/01658107.2021.1981038
D. Bellows, N. Chan, John J. Chen, Hui-Chen Cheng, P. Macintosh, J. N. Nij Bijvank, M. Vaphiades, S. Wong, Xiaojun Zhang
{"title":"Neuro-Ophthalmic Literature Review","authors":"D. Bellows, N. Chan, John J. Chen, Hui-Chen Cheng, P. Macintosh, J. N. Nij Bijvank, M. Vaphiades, S. Wong, Xiaojun Zhang","doi":"10.1080/01658107.2021.1981038","DOIUrl":"https://doi.org/10.1080/01658107.2021.1981038","url":null,"abstract":"Neuro-Ophthalmic Literature Review David A. Bellows, Noel C.Y. Chan, John J. Chen , Hui-Chen Cheng, Peter W. MacIntosh, Jenny A. Nij Bijvank, Michael S. Vaphiades, Sui H. Wong, and Xiaojun Zhang I had always been taught that they don’t progress! Pan Z, Wei CC, Peng X, Zhang Q, Xu L, Yang H, Wei WB, Wang YX, Jonas JB. Myelinated retinal nerve fibre progression in a 10-year follow-up. The Beijing Eye Study 2011/2011. Am J Ophthalmol. 2021;230:68–74. doi: 10.1016/j.ajo.2021.04.018. The Beijing Eye Study is a population-based longitudinal study that included 4439 participants in 2001 and 2695 participants at follow-up in 2011. Myelinated retinal nerve fibres (MRNFs) were identified in 29 individuals (35 eyes) at the beginning of the study and 20 participants (23 eyes), who remained participants in the study, were reexamined in 2011. Good quality fundus photographs were available for 17 of these individuals (19 eyes). The data showed that all MRNFs present in 2011 were also present in 2001 and that no new MRNFs were detected. The most common location was juxtapapillary, which occurred in 79% of eyes. The mean area of MRNFs increased from 4233 μm to 5243 μm (or 1010 μm) during the study period. The larger increases in MRNF area were associated with the following characteristics: male sex; higher pulse rate; higher serum concentration of low density lipoprotein; longer axial length; small optic disk area; peripheral location; and smaller MRNF areas. David A. Bellows NMOSD – late versus very late Nakahara K, Nakane S, Nagaishi A, Narita T, Matsuo H, Ando Y. Very late onset neuromyelitis optic spectrum disorders. Eur J Neurol. 2021;28(8):2574–2581. doi: 10.1111/ene.14901. In this retrospective review of Japanese patients with neuromyelitis optica spectrum disorders (NMOSD), 76 patients were classified according to the age of onset: ≤49 years (early onset – NMOSD); 50–69 years (late onset – NMOSD); and ≥70 years (very late onset – NMOSD). Clinical, laboratory, and neuroimaging findings were then compared among the three groups. Among 12 males and 64 females included, 46 (61%), 22 (29%) and 8 (11%) were identified as EO-NMOSD, LO-NMOSD, and VLONMOSD, respectively. Unexpectedly, oral prednisolone remained the main stay of long-term treatment in the majority of the subjects especially in the EONMOSD and LO-NMOSD groups. Out of the 76 patients, azathioprine was only used in two patients, while four patients were being put on Tacrolimus or Eculizumab. None of the eight VLO-NMOSD patients was treated with steroid sparing immunosuppressants or biological agents. In this study, optic nerve lesions were observed significantly less frequently in patients with VLONMOSD (p = 0.028). They also found that VLONMOSD had significantly longer length of spinal cord lesions during a myelitis episode (p = 0.032) as compared with the other two groups. This echoed with recent studies reporting the higher tendency of patients with EO-NMOSD manifesting with optic neuritis as the f","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"118 1","pages":"417 - 424"},"PeriodicalIF":0.8,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90561470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gillespie’s Syndrome Phenotype in A Patient with a Homozygous Variant of Uncertain Significance in the ITPR1 Gene 在ITPR1基因中具有不确定意义的纯合变异的患者的吉莱斯皮综合征表型
IF 0.8
Neuro-Ophthalmology Pub Date : 2021-10-13 DOI: 10.1080/01658107.2021.1982991
Marta Lucía Muñoz Cardona, Jorge Mario López Mahecha
{"title":"Gillespie’s Syndrome Phenotype in A Patient with a Homozygous Variant of Uncertain Significance in the ITPR1 Gene","authors":"Marta Lucía Muñoz Cardona, Jorge Mario López Mahecha","doi":"10.1080/01658107.2021.1982991","DOIUrl":"https://doi.org/10.1080/01658107.2021.1982991","url":null,"abstract":"ABSTRACT A 10-year-old girl presented with left-eye esotropia and fixed mydriasis. Previously, she had been diagnosed with cerebellar ataxia and mild intellectual disability. Her parents were healthy. She was found to have partial aniridia of the pupillary sphincter bilaterally. A next-generation sequencing test for the inositol 1,4,5‐trisphosphate type 1 receptor (ITPR1) gene was performed, revealing a previously unreported homozygous variant of uncertain significance at c.7610. Computational (In Silico) predictive models predicted this variant to be disease causing. With the arrival of DNA sequencing, aniridia can be genetically classified. In this case report, we present a patient with phenotypic features of Gillespie’s syndrome with a homozygous variant in the ITPR1 gene that has not previously been reported.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"274 1","pages":"186 - 189"},"PeriodicalIF":0.8,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77179501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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