Journal of Neuro-Ophthalmology最新文献

{"title":"Lost in the Sauce: An Atypical Cause of Optic Neuropathy.","authors":"Jessica A Kraker, Zinandre Stander, Devin Oglesbee, Lisa A Schimmenti, John J Chen","doi":"10.1097/WNO.0000000000002183","DOIUrl":"10.1097/WNO.0000000000002183","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e147-e149"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy.","authors":"M Aurel Nagy, Mary E Cunnane, Amy F Juliano, Janey L Wiggs, Paul A Caruso, Eric D Gaier","doi":"10.1097/WNO.0000000000002191","DOIUrl":"10.1097/WNO.0000000000002191","url":null,"abstract":"<p><strong>Background: </strong>Genetic optic atrophies comprise phenotypically heterogenous disorders of mitochondrial function. We aimed to correlate quantitative neuroimaging findings of the optic nerves in these disorders with clinical measures.</p><p><strong>Methods: </strong>From a retrospective database of 111 patients with bilateral optic atrophy referred for genetic testing, 15 patients diagnosed with nonglaucomatous optic atrophy of genetic origin (7 patients with pathogenic variants in OPA1 , 3 patients with Wolfram syndrome, and 5 patients with Leber hereditary optic neuropathy) who had accessible magnetic resonance (MR) images of the orbits and/or brain were analyzed. The primary outcome measures of T2 short Tau inversion recovery (STIR) signal and optic nerve caliber were quantified according to a standardized protocol, normalized to internal standards, and compared between cases and controls. Inter-rater reliability was assessed and clinical features were analyzed according to MRI features.</p><p><strong>Results: </strong>Compared with control patients, the 15 genetic optic atrophy patients demonstrated significantly increased T2 STIR signal (fold-change 1.6, P = 0.0016) and decreased optic nerve caliber (fold-change 0.72, P = 0.00012) after internal normalization. These metrics were reliable (inter-reader reliability correlation coefficients of 0.98 [ P = 0.00036] and 0.74 [ P = 0.0025] for normalized STIR and nerve caliber, respectively) and significantly correlated with visual acuity, cup-to-disc ratio, and visual field testing.</p><p><strong>Conclusions: </strong>Normalized optic nerve STIR signal and optic nerve caliber significantly correlate with visual acuity, cup-to-disc ratio, and perimetric performance in patients with genetic optic atrophy. A formalized protocol to characterize these differences on MRI may help to guide accurate and expedient diagnostic evaluation.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"145-152"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations.","authors":"Eliane Rozanes, Assaf Ben-Arzi, Hagai Boas, Miriam Ehrenberg, Omer Bialer, Hadas Stiebel-Kalish","doi":"10.1097/WNO.0000000000002232","DOIUrl":"10.1097/WNO.0000000000002232","url":null,"abstract":"<p><strong>Background: </strong>Patients with genetic optic atrophies must navigate all stages of life with their visual impairment, including the important milestone of family planning. Advances in genetic testing now allows physicians and affected families to consider medical help with the aim of preventing blindness through preconception, preimplantation, and perinatal methods.</p><p><strong>Methods: </strong>This case series presents 4 patients with different genetic optic atrophies (Leber hereditary optic neuropathy [LHON], autosomal dominant optic atrophy, Wolfram syndrome, and papillorenal syndrome) who were followed by the Neuro-Ophthalmology Unit at a tertiary medical center between 2010 and 2023 and were of child-bearing age. The aim of this study was to increase understanding in family planning options for patients with optic atrophies, raise awareness of the solutions available, and provide guidance for clinicians to support their patients.</p><p><strong>Results: </strong>Advances in medicine, genetics, and medical technology allow multidisciplinary teams to assist patients in fulfilling their desire for a genetically healthy offspring. Customized solutions can be designed to meet the specific challenges posed by each type of genetic optic atrophy. The solutions proposed in this series are based on genetic testing done in the parents, which then allows to plan medical and genetic intervention individually. The solutions opted for in this series range from the decision to not have another child until PGD (Preimplantation genetic diagnosis).</p><p><strong>Conclusions: </strong>We describe how genetic advancements have made it possible for patients with the 4 most common hereditary optic atrophies to fulfill their wish to have children without visually threatening genetic mutations. We also review the recent literature on the penetrance of optic atrophy in OA-mutation carriers and raise 2 significant ethical considerations: the reduction of a future life to a non-life-threatening impairment and that of public expenditure for non-life-threatening conditions.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"153-157"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Visual Functions in Patients With Leber Hereditary Optic Neuropathy.","authors":"Robin Francomme, Quentin Lenoble, Vasily Smirnov, Muriel Boucart","doi":"10.1097/WNO.0000000000002237","DOIUrl":"10.1097/WNO.0000000000002237","url":null,"abstract":"<p><strong>Background: </strong>Most of the data on visual functions in Leber hereditary optic neuropathy (LHON) is based on patient questionnaires. Our study assessed the impact of LHON on visual function by testing facial recognition and execution of purposeful actions.</p><p><strong>Methods: </strong>Twelve participants with LHON with central scotoma ranging from 5° to 20° and 12 unaffected age-matched controls were involved in our study. In the face recognition test, participants were asked to recognize the sex and the facial expression of photographs of faces increasing in size to simulate approaching faces. In the purposeful action test, they were asked to manipulate real objects while their eye movements were recorded.</p><p><strong>Results: </strong>Although most patients were able to recognize the correct sex of a face at a size corresponding to a 1-m viewing distance, recognition of facial expressions was severely impaired. Patients were slower than control subjects in executing purposeful tasks. A dynamic strategy to sample information needed for the execution of a task was documented in a longer scanpath and in higher frequency of saccades and fixation eye movements in patients than in control subjects.</p><p><strong>Conclusions: </strong>Face perception is strongly impaired in patients with LHON. In addition, although the selection and manipulation of real objects to execute a task are slowed, they can be performed efficiently using peripheral vision.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"158-163"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142882420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical Presentation of Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss Syndrome) as Bilateral Simultaneous Anterior Ischemic Optic Neuropathy.","authors":"Anas L Yasin, Samiksha Fouzdar Jain, Bliss O'Bryhim, Richard H Legge, Paul J Rychwalski","doi":"10.1097/WNO.0000000000002164","DOIUrl":"10.1097/WNO.0000000000002164","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e117-e118"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140851152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ophthalmology in the Blink of an Eye: The Light-Induced Eyelid Reflex.","authors":"Cyrus X Colah, Nitsan Duvedan-Strier, Emma M Hartness, Randy H Kardon","doi":"10.1097/WNO.0000000000002358","DOIUrl":"https://doi.org/10.1097/WNO.0000000000002358","url":null,"abstract":"<p><strong>Background: </strong>A video-based assessment of the light-induced eyelid reflex, termed the photic blink reflex (PBR), was quantified based on the degree of palpebral fissure (PF) narrowing as a noninvasive test of visual input. The physiology of PF narrowing in response to light intensity was compared to the pupil light reflex, measured simultaneously.</p><p><strong>Methods: </strong>Eyelid and pupil responses to flashes of white light stimulus, increasing in intensity, were video recorded in 53 subjects using a monocular hand-held device. Responses to photopic red and blue light stimuli were recorded in 5 subjects. Percent-change of PF width and pupil width from the prestimulus baseline was measured.</p><p><strong>Results: </strong>In 81% of subjects, there was significant correlation between PF narrowing and light stimulus intensity. There was no correlation between the PBR and the pupil light reflex in the same eye in normal subjects. There was no sustained postillumination PF narrowing to bright blue-light stimuli compared to the postillumination sustained pupil response that was present in response to the same stimulus.</p><p><strong>Conclusions: </strong>The photic blink reflex can be quantified with video recording of the palpebral fissure. The photic blink reflex has potential utility as an alternative to the pupil light reflex in assessing asymmetric pathologies of the afferent visual pathway, especially in eyes with pharmacologically dilated or unreactive pupils.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":"45 2","pages":"243-248"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pallid Optic Disc Edema in Nonarteritic Anterior Ischemic Optic Neuropathy.","authors":"Malcolm M Kates, Danielle R Isen, Michael S Vaphiades, Lanning B Kline","doi":"10.1097/WNO.0000000000002162","DOIUrl":"10.1097/WNO.0000000000002162","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e114-e116"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140865322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Great Conversation With Edmond J. FitzGibbon.","authors":"Rachel A Calix, George T Park, Kathleen B Digre","doi":"10.1097/WNO.0000000000002339","DOIUrl":"10.1097/WNO.0000000000002339","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e153-e159"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unilateral Hemianopia: An Uncommon Presentation of Functional Neurologic Disorder in Pediatrics.","authors":"Javier García-Bardera, Patricia Robles-Amor, Mireia García-Bermúdez, Marco Antonio Pascual-Santiago, Blanca Domingo-Gordo","doi":"10.1097/WNO.0000000000002312","DOIUrl":"10.1097/WNO.0000000000002312","url":null,"abstract":"","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"e150-e152"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eosinophilic Granulomatosis With Polyangiitis Presenting With Neuro-Ophthalmic Manifestations.","authors":"Sahar Noorani, Ali Shah Tejani, Mingyi Chen, Melanie Truong-Le","doi":"10.1097/WNO.0000000000002318","DOIUrl":"10.1097/WNO.0000000000002318","url":null,"abstract":"<p><strong>Abstract: </strong>A 45-year-old man reported progressively worsening vision, photophobia, and dyschromatopsia in the left eye as well as oblique binocular diplopia. His neuro-ophthalmic examination was significant for ophthalmoplegia and optic disc edema in the left eye. MRI of the brain and orbits showed enlargement and contrast enhancement of the left lateral rectus muscle, optic nerve sheath, and cavernous sinus. He was started on corticosteroids with improvement in his symptoms, examination, and imaging. However, on cessation of corticosteroids, he developed worsening symptoms. Biopsy of the left lateral rectus muscle showed reactive lymphoid infiltrates with eosinophilia and no evidence of malignancy. While off corticosteroids, a complete blood count with differential revealed peripheral eosinophilia. He was diagnosed with eosinophilic granulomatosis with polyangiitis (EGPA) and ultimately started on steroid-sparing therapy with mepolizumab. EGPA may present with primarily ocular or orbital involvement.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":"231-234"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}