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}
{"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}
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}
Neuro-OphthalmologyPub Date : 2021-10-13eCollection Date: 2021-01-01DOI: 10.1080/01658107.2021.1981948
Deena Tajfirouz, Casey Judge, John J Chen, Collin McClelland
{"title":"Proceedings of the 43nd Annual Upper Midwest Neuro-Ophthalmology Group Meeting, July 23, 2021 and Second Virtual Upper Midwest Neuro-Ophthalmology Group Meeting.","authors":"Deena Tajfirouz, Casey Judge, John J Chen, Collin McClelland","doi":"10.1080/01658107.2021.1981948","DOIUrl":"https://doi.org/10.1080/01658107.2021.1981948","url":null,"abstract":"<p><p>The 43rd meeting of the Upper Midwest Neuro-Ophthalmology Group (UMNOG) took place on July 23, 2021. For the second sequential year, the meeting was held virtually due to the COVID-19 pandemic. The meeting was held in the honour of the late Ivy Dreizin MD. Ninety people attended virtually marking the highest UMNOG meeting attendance on record. There were 23 podium presentations interspersed with numerous personal testimonials recognising Dr Dreizin and her immense contributions to the UMNOG community.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"45 6","pages":"411-416"},"PeriodicalIF":0.8,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555520/pdf/IOPH_45_1981948.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39578395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Post-concussion Syndrome Light Sensitivity: A Case Report and Review of the Literature","authors":"Mohammad Abusamak, H. Alrawashdeh","doi":"10.1080/01658107.2021.1983612","DOIUrl":"https://doi.org/10.1080/01658107.2021.1983612","url":null,"abstract":"ABSTRACT Photophobia is considered the second most common symptom of both concussion and post-concussion syndrome. Soldiers on duty experience photophobia after blast-related concussions or mild traumatic brain injury in 60–75% of instances. In addition, soldiers report other symptoms, such as asthenopia, squinting, dry eyes and headaches, for which they are considered to be at high risk. According to the International Brain Injury Association, some concussed patients report indirect symptoms such as multi-tasking difficulties, dizziness, vertigo, and fatigue. Moreover, some concussed individuals experience photophobia for approximately 6 months or indefinitely. We present the case of a 23-year-old soldier who presented with severe photophobia after a mild traumatic head injury. His photophobia was alleviated after the administration of topical anaesthetic drops in the eyes in the absence of any ocular surface pathology. He was diagnosed with post-concussion syndrome light sensitivity and was managed successfully with rose-coloured special photophobia glasses tinted with FL-41. Photophobia is a common neurological symptom in military personnel that needs more attention as it affects body and mind. We have reported an uncommon pathway of photophobia, which may unveil an unrecognised mechanism that may play a role in post-concussion photophobia.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"24 1","pages":"85 - 90"},"PeriodicalIF":0.8,"publicationDate":"2021-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76735868","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}
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}
Neuro-OphthalmologyPub Date : 2021-08-25eCollection Date: 2022-01-01DOI: 10.1080/01658107.2021.1965171
Sühan Tomaç, Enes Uyar, Erdogan Yasar
{"title":"A Rare Case of Bilateral Incomplete Duane's Syndrome with Synkinesis of the Levator and Lateral Rectus.","authors":"Sühan Tomaç, Enes Uyar, Erdogan Yasar","doi":"10.1080/01658107.2021.1965171","DOIUrl":"https://doi.org/10.1080/01658107.2021.1965171","url":null,"abstract":"<p><p>In the last few decades, Duane's syndrome (DS) has begun to be classified under as one of the congenital cranial dysinnervation syndromes (CCDDs), as its primary cause is neurogenic. Incomplete forms of DS have been described very recently. This case appears to be the first report of the association of an incomplete DS with synkinesis of the levator and lateral rectus as a severe and complex example of a CCDD.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":" ","pages":"242-243"},"PeriodicalIF":0.8,"publicationDate":"2021-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291704/pdf/IOPH_46_1965171.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40523323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D. AlQahtani, Abdulaziz A Alshamrani, Raniah Alqawahmed, S. Elkhamary, Huda AlGhadeer
{"title":"Olfactory Neuroblastoma: An Unusual Ocular Presentation","authors":"D. AlQahtani, Abdulaziz A Alshamrani, Raniah Alqawahmed, S. Elkhamary, Huda AlGhadeer","doi":"10.1080/01658107.2021.1958872","DOIUrl":"https://doi.org/10.1080/01658107.2021.1958872","url":null,"abstract":"ABSTRACT We report a case of 51–year–old medically healthy male who presented with gradual painless diminution of vision in both eyes for 3 months. His visual acuity was hand movement perception in the right eye, and no light perception in the left eye. The intraocular pressure, external eye examination, ocular motility and anterior segment examinations were normal. Fundus examination revealed severe bilateral papilloedema and engorged tortuous veins in both eyes. Imaging exhibited a large intracranial tumour causing raised intracranial pressure. This was debulked by neurosurgery and histological examination revealed that the tumour was an olfactory neuroblastoma (ONB). This case is noteworthy since ONBs rarely present with isolated papilloedema without any accompanying ophthalmoplegia, proptosis, epistaxis, nasal, or neurological symptoms.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"15 1","pages":"182 - 185"},"PeriodicalIF":0.8,"publicationDate":"2021-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85375096","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}
Clara M. Castillejo Becerra, C. Crowson, M. Koster, K. Warrington, M. Bhatti, John J. Chen
{"title":"Population-based Rate and Patterns of Diplopia in Giant Cell Arteritis","authors":"Clara M. Castillejo Becerra, C. Crowson, M. Koster, K. Warrington, M. Bhatti, John J. Chen","doi":"10.1080/01658107.2021.1965627","DOIUrl":"https://doi.org/10.1080/01658107.2021.1965627","url":null,"abstract":"ABSTRACT Giant cell arteritis (GCA) is the most common vasculitis in older adults with permanent vision loss as a feared complication. Diplopia has been reported in a small percentage of patients with visual manifestations. The goal of this study was to determine the population-based rates and patterns of binocular diplopia from GCA. The Rochester Epidemiology Project (REP), a medical records linkage system was used to identify all residents of Olmsted County, Minnesota, USA, diagnosed with GCA between January 1, 1950 and December 31, 2019. Medical records were then reviewed to identify patients with binocular diplopia from GCA. There were 301 incident cases of GCA from 1950 to 2019. Fourteen (5%) patients presented with binocular diplopia. Of these 14 patients, nine (3%) had constant diplopia and five (2%) had transient diplopia. Among patients with constant diplopia, cranial nerve VI involvement was suspected in four (44%) cases. Systemic symptoms and inflammatory markers were similar in patients with and without diplopia. There was no difference in the rate of anterior ischaemic optic neuropathy between the two groups (7% vs. 7%, p = 1.00). In conclusion, this population-based study showed that binocular diplopia was present in 5% of patients with GCA, which could either be transient or constant. GCA patients with diplopia had similar systemic manifestations and risk of vision loss as GCA patients without diplopia.","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":"322 1","pages":"75 - 79"},"PeriodicalIF":0.8,"publicationDate":"2021-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77506918","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}
{"title":"Optical Coherence Tomography and Optical Coherence Tomography Angiography Findings in Multiple Sclerosis Patients.","authors":"Ayşe Balıkçı, Neslihan Parmak Yener, Meral Seferoğlu","doi":"10.1080/01658107.2021.1963787","DOIUrl":"https://doi.org/10.1080/01658107.2021.1963787","url":null,"abstract":"<p><p>In addition to ocular neurodegeneration in multiple sclerosis (MS), accompanying microvascular changes in the retina are thought to occur. In this study we sought to compare retinal neurodegenerative changes using optical coherence tomography (OCT) and microvascular changes using OCT angiography (OCTA) of MS patients and healthy controls. This cross-sectional study included 164 eyes of 83 MS patients and 114 eyes of 57 healthy control subjects. There were significant differences in retinal nerve fibre layer (RNFL), ganglion cell complex (GCC), and radial peripapillary capillary (RPC) vessel density (VD) between the MS group and the control group, but no significant differences in superficial capillary plexus (SCP) VD and deep capillary plexus (DCP) VD, foveal avascular zone (FAZ), non-flow area (NFA), and choriocapillary flow (CCF) values. Comparing the eyes with and without previous optic neuritis showed no significant differences in the OCT and OCTA measurements. A negative correlation was found between the expanded disability status scale score and disease duration and the RNFL and GCC values. A positive correlation was found between the RNFL and GCC values and the SCP VD and RPC VD. In MS patients, RPC VD values decreased in correlation with decreases in RNFL and GCC. This reduction increased as the disease duration and disability criteria increased. OCT and OCTA may be important biomarkers in MS.</p>","PeriodicalId":19257,"journal":{"name":"Neuro-Ophthalmology","volume":" ","pages":"19-33"},"PeriodicalIF":0.8,"publicationDate":"2021-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8794252/pdf/IOPH_46_1963787.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39733744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}