keyword
https://read.qxmd.com/read/38224077/-rtn4ip1-associated-non-syndromic-optic-neuropathy-and-rod-cone-dystrophy
#21
JOURNAL ARTICLE
Priya R Gupta, Kaitlin O'Connell, Jack M Sullivan, Rachel M Huckfeldt
BACKGROUND: Biallelic variants in RTN4IP1 are a well-established cause of syndromic and nonsyndromic early-onset autosomal recessive optic neuropathy. They have more recently been reported to cause a concomitant but later-onset rod-cone dystrophy with or without syndromic features. METHODS: A comprehensive evaluation was performed that included assessment of visual and retinal function, clinical examination, and retinal imaging. Childhood ophthalmic records as well as the results of genetic testing were evaluated...
January 15, 2024: Ophthalmic Genetics
https://read.qxmd.com/read/38197957/anterior-and-posterior-ischemic-optic-neuropathy-in-a-child-with-focal-segmental-glomerulosclerosis-on-hemodialysis
#22
JOURNAL ARTICLE
Katherine Mai, Rina Su, Abby Basalely, Laura J Castellanos, Pamela Singer, Howard D Pomeranz, Rashmi Verma, Christine B Sethna
BACKGROUND: Ischemic optic neuropathy (ION) is exceedingly rare in children on dialysis, resulting from poor perfusion of the optic nerve, and presents as sudden acute painless vision loss. CASE-DIAGNOSIS/TREATMENT: We report the case of a 3-year-old male with stage 5 chronic kidney disease (CKD 5) due to focal segmental glomerulosclerosis (FSGS) status post-bilateral nephrectomy on chronic hemodialysis who had acute loss of vision several hours after a hemodialysis session...
January 10, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38187506/simultaneous-bilateral-application-of-the-scepter-mini-balloon-microcatheter-for-occlusion-of-ethmoidal-dural-arteriovenous-fistulas
#23
JOURNAL ARTICLE
Gilbert Gravino, Richard Pullicino, Mani Puthuran, Ynyr Edwards, Jawad Yousaf, Emmanuel Chavredakis, Arun Chandran
Ethmoidal dural arteriovenous fistulas are a rare entity accounting for 10 % of all dAVFs.3-6 Haemorrhage occurs in up to 91 % of cases, which is a particularly high risk and warrants therapeutic intervention.8-9 Endovascular treatment for these fistulas using the conventional detachable microcatheter technique is associated with certain limitations and risks; 8.3 % rate of incomplete obliteration and an 8.3 % rate of complications. Complications include reflux of liquid embolic agent, posterior ischaemic optic neuropathy, acute visual loss, and small subdural haematoma secondary to a micro-perforation...
January 2024: World neurosurgery: X
https://read.qxmd.com/read/38184971/multifocal-strokes-and-vision-loss-from-pdlla-filler-injections
#24
You-Jiang Tan, Nara Sugianto, Yanhui Li
BACKGROUND: Poly-D, L-lactic acid (PDLLA) is increasingly used as a commercial dermal filler due to its lasting cosmetic properties. Consequently, PDLLA-related vascular complications are increasingly recognized and described. Herein, we describe the first known occurrence of multifocal strokes from the use of PDLLA as a cosmetic dermal filler, and discuss the mechanisms facilitating PDLLA's entry into the intracranial arterial system. CASE PRESENTATION: A middle-aged female presented with acute vision loss of both eyes immediately after dermal injections of PDLLA to her nasolabial folds and infraorbital regions...
January 6, 2024: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://read.qxmd.com/read/38178765/-an-analysis-of-the-etiology-composition-and-clinical-characteristics-of-bilateral-optic-disc-swelling
#25
JOURNAL ARTICLE
X N Wang, J W Wang
Objective: To investigate the etiology composition and clinical characteristics of bilateral optic disc swelling(ODS). Methods: The medical records of all newly diagnosed bilateral ODS patients admitted to the neurology ward of Beijing Tongren Hospital from January 2017 to June 2021 were retrospectively searched to classify the etiology, obtain demographic and clinical information, and compare the differences in clinical characteristics. Results: A total of 131 patients with bilateral ODS were included, including 56 males and 75 females, aged 15-73 (39±14) years...
January 2, 2024: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://read.qxmd.com/read/38174189/when-sight-and-cancer-collide-a-rare-case-of-paraneoplastic-bilateral-optic-neuritis
#26
Jorge Nadal Bosch, Mario Moya, Samuel Serna, Roberto A Cruz, Javier Malcolm
Bilateral acute optic neuritis is a rare and challenging clinical presentation, often associated with conditions like multiple sclerosis or neuromyelitis optica spectrum disorder. We present the case of a 40-year-old woman with a complex medical history, including poorly differentiated squamous cell carcinoma of the cervix (stage IIIC), who presented with a swift and profound bilateral vision loss. Despite initial treatment with high-dose methylprednisolone and therapeutic plasma exchange, her optic nerve enhancement on MRI and negative autoantibody results raised suspicion of paraneoplastic optic neuritis...
December 2023: Curēus
https://read.qxmd.com/read/38161514/a-case-of-functional-visual-loss-diagnosed-through-bilateral-randomized-visual-field-testing-with-a-trick-method
#27
Yuki Takagi, Sho Yokoyama, Yoshimi Yokoyama, Kenta Hozumi, Tatsushi Kaga
PURPOSE: To report a case of functional visual loss (FVL) diagnosed through bilateral randomized visual field testing using Imo vifa with a trick method. OBSERVATIONS: A 27-year-old man complained of visual field abnormality in his left eye after falling from a height of 4 m. The left eye had a best-corrected visual acuity (BCVA) of 20/16 and a critical flicker frequency (CFF) of 44.5 Hz at the first visit. Commotio retinae was observed in the inferior retina of the left eye, and the pupillary light reflex was normal...
December 2023: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/38152638/diffusion-basis-spectrum-imaging-detects-subclinical-traumatic-optic-neuropathy-in-a-closed-head-impact-mouse-model-of-traumatic-brain-injury
#28
JOURNAL ARTICLE
Hsin-Chieh Yang, Raj Swaroop Lavadi, Andrew D Sauerbeck, Michael Wallendorf, Terrance T Kummer, Sheng-Kwei Song, Tsen-Hsuan Lin
INTRODUCTION: Traumatic optic neuropathy (TON) is the optic nerve injury secondary to brain trauma leading to visual impairment and vision loss. Current clinical visual function assessments often fail to detect TON due to slow disease progression and clinically silent lesions resulting in potentially delayed or missed treatment in patients with traumatic brain injury (TBI). METHODS: Diffusion basis spectrum imaging (DBSI) is a novel imaging modality that can potentially fill this diagnostic gap...
2023: Frontiers in Neurology
https://read.qxmd.com/read/38145039/toxic-optic-neuropathy-due-to-mercury-in-skin-lightening-products
#29
Richard N Sather, Michael S Lee
Mercury has been described as been in daily household items such as soaps, skin-lightening creams (SLC), and topical disinfectants. Mercury exposure can reportedly cause damage to the optic nerve and retina. A 30-year-old Somali woman presented with decreased vision and was found to have bilateral optic atrophy. Neuroimaging and laboratory work-up for nutritional deficiencies, heavy metals, and syphilis were performed. Evaluation revealed normal neuroimaging and laboratory work-up except for elevated serum and urine mercury levels...
2023: Neuro-ophthalmology
https://read.qxmd.com/read/38143670/chronic-inflammatory-demyelinating-polyneuropathy-with-reversible-severe-cognitive-impairment-and-gastrointestinal-dysfunction
#30
Madison M Patrick, Rachel Bielling, Galen Postma, Brenda Trokthi, Charles G Maitland
We treated a patient with an unusual case of reversible rapidly progressive cognitive impairment, gastrointestinal dysfunction, and generalized neuromyopathy in chronic inflammatory demyelinating polyneuropathy (CIDP) with optic neuropathy. A man in his 50s presented with a four-month history of rapidly progressive cognitive decline in addition to a six-month history of proximal greater than distal painful muscle weakness, wasting in all extremities, almost complete loss of deep tendon reflexes in his lower extremities, and slow progressive vision loss...
November 2023: Curēus
https://read.qxmd.com/read/38131549/an-optical-coherence-study-on-optic-disc-parameters-and-peripapillary-retinal-nerve-fiber-layer-thickness-in-patients-with-optic-disc-edema
#31
JOURNAL ARTICLE
Yamijala Neha Srija, Lolly Pattnaik, Suchismita Mishra, Pradeep Kumar Panigrahi
PURPOSE: This study aimed at evaluation of patients diagnosed with optic disc edema (ODE) in terms of demographics, etiology, clinical presentation, and optical coherence tomography parameters. METHODS: An observational cross-sectional study was conducted from August 2021 to July 2022. Patients diagnosed with ODE underwent comprehensive ophthalmic evaluation. Peripapillary retinal nerve fiber layer (RNFL) thickness and optic nerve head parameters were assessed using optical coherence tomography...
January 1, 2024: Indian Journal of Ophthalmology
https://read.qxmd.com/read/38130808/presentation-of-ocular-syphilis-with-bilateral-optic-neuropathy
#32
Mustafa Kayabaşı, Seher Köksaldı, Ali Osman Saatci, Meltem Söylev Bajin
A 60-year-old otherwise healthy male presented with a 1 year history of bilateral progressive visual loss. His best-corrected visual acuity was counting fingers at 2 m with his right eye and counting fingers at 0.5 m with his left eye. Visual field testing revealed bilateral near-total loss of visual fields. Slit-lamp examination was unremarkable, apart from bilateral grade two nuclear sclerotic cataracts. Both optic discs were pale-looking with some retinal pigment epithelial alterations at the left papillomacular region...
2023: Neuro-ophthalmology
https://read.qxmd.com/read/38130805/clinically-diagnosed-occult-macular-dystrophy-habouring-an-m-14502t-c-mitochondrial-dna-mutation-associated-with-leber-s-hereditary-optic-neuropathy-case-report-and-literature-review
#33
Han Peng Zhou, Hiromasa Sawamura, Natsuko Nakamura, Akiko Yamagami, Ryoma Yasumoto, Kyoko Kasai, Ryo Obata, Makoto Aihara
A 29-year-old female with no family history presented with bilateral progressive blurred vision. Her symptoms appeared at 12-years-old and her visual acuity had since deteriorated from 0.6 to 0.2 bilaterally with decreased critical flicker frequency and bilateral central scotomas. She did not have a relative afferent pupillary defect. Fundoscopy revealed no distinct disc hyperaemia, atrophy, or peripapillary telangiectatic vessels. The retinal nerve fibre layer appeared normal on optical coherence tomography in each eye; however, loss of the interdigitation zone and the disruption of the ellipsoid zone at the fovea were observed in both eyes...
2023: Neuro-ophthalmology
https://read.qxmd.com/read/38117686/leber-hereditary-optic-neuropathy-gene-therapy
#34
JOURNAL ARTICLE
Byron L Lam
PURPOSE OF REVIEW: To discuss relevant clinical outcomes, challenges, and future opportunities of gene therapy in Leber hereditary optic neuropathy (LHON). RECENT FINDINGS: Results of G11778A LHON Phase 3 randomized clinical trials with unilateral intravitreal rAAV2/2-ND4 allotopic gene therapy show good safety and unexpected bilateral partial improvements of BCVA (best-corrected visual acuity) with mean logMAR BCVA improvements of up to near ∼0.3 logMAR (3 lines) in the treated eyes and ∼0...
December 21, 2023: Current Opinion in Ophthalmology
https://read.qxmd.com/read/38107630/case-report-mutations-in-dnajc30-causing-autosomal-recessive-leber-hereditary-optic-neuropathy-are-common-amongst-eastern-european-individuals
#35
Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F Chinnery, Catarina Olimpio, Rita Horvath
BACKGROUND: Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to be exclusively maternally inherited due to mutations in mitochondrial DNA (mtDNA); however, recent studies have identified an autosomal recessive form of LHON (arLHON) caused by point mutations in the nuclear gene, DNAJC30 . CASE PRESENTATIONS: In this study, we report the cases of three Eastern European individuals presenting with bilateral painless visual loss, one of whom was also exhibiting motor symptoms...
2023: Frontiers in Neurology
https://read.qxmd.com/read/38096730/optic-neuritis-in-turkish-children-and-adolescents-a-multicenter-retrospective-study
#36
JOURNAL ARTICLE
Meltem Çobanoğulları Direk, Şeyda Besen, İbrahim Öncel, Ceren Günbey, Orhan Özdoğan, Leman Tekin Orgun, Sevim Sahin, Ali Cansu, Nihal Yıldız, Seda Kanmaz, Sanem Yılmaz, Hasan Tekgül, Dilşad Türkdoğan, Olcay Ünver, Gülten Öztürk Thomas, Salih Başıbüyük, Deniz Yılmaz, Ayşegül Neşe Kurt, Pembe Gültutan, Özlem Özsoy, Uluç Yiş, Semra Hız Kurul, Serdal Güngör, Bilge Özgör, Meral Karadağ, Nihal Olgaç Dündar, Pınar Gençpınar, Olgay Bildik, Sibğatullah Ali Orak, Çişil Çerçi Kabur, Bülent Kara, Ömer Karaca, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ünsal Yılmaz, Pakize Karaoğlu, Özlem Ersoy, Ayşe Tosun, Semra Büyükkorkmaz Öztürk, Deniz Yüksel, Ergin Atasoy, Kıvılcım Gücüyener, Miraç Yıldırım, Ömer Bektaş, Dilek Çavuşoğlu, Çoşkun Yarar, Olcay Güngör, Gülen Gül Mert, Esra Sarıgeçili, Selvinaz Edizer, İpek Dokurel Çetin, Seren Aydın, Betül Diler, Asena Ayça Özdemir, İlknur Erol, Çetin Okuyaz, Banu Anlar
BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1...
November 26, 2023: Multiple Sclerosis and related Disorders
https://read.qxmd.com/read/38085604/a-rare-case-of-uremic-optic-neuropathy-without-optic-disc-edema-and-with-a-unique-imaging-correlate-bilateral-diffusion-restriction-of-the-optic-nerves
#37
JOURNAL ARTICLE
Julia H Greenberg, Samyuktha Guttha, Alyssa Pullano, Floyd A Warren
No abstract text is available yet for this article.
December 12, 2023: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://read.qxmd.com/read/38078040/acute-vision-loss-in-patients-with-allergic-fungal-rhinosinusitis-a-case-series
#38
JOURNAL ARTICLE
Hussain Allami, Hadeel Muhammad Alarfaj, Hisham Almousa, Razan Abdullah Aldhahri, Rayan Alfallaj, Abdulmajeed Alharbi, Sarah S Alotaibi, Ghassan Alokby, Saad Alsaleh
Allergic fungal rhinosinusitis (AFRS) is a subtype of chronic noninvasive sinusitis accounting for 7.8% (0.2%-26.7%) of all chronic rhinosinusitis cases. A definitive diagnosis is usually made after sinus surgery. Successful treatment requires a combination of surgical and medical management. Although orbital involvement is relatively common, reports on optic neuropathy and acute vision loss are limited. Herein, we present a series of 3 patients with AFRS who presented with acute visual loss as the chief complaint...
2023: Ther Adv Allergy Rhinol
https://read.qxmd.com/read/38022732/alstr%C3%A3-m-s-syndrome-leber-s-hereditary-optic-neuropathy-or-retinitis-pigmentosa-a-case-of-misdiagnosis
#39
Palaiologos Alexopoulos, Chrysanthos Symeonidis, Tryfon Rotsos
A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber's hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. AS affects metabolism, and symptomatology includes type 2 diabetes mellitus ( T2DM ), obesity, hypogonadism and gynecomastia in males, progressive bilateral sensorineural hearing loss, cardiomyopathy, nonalcoholic fatty liver disease ( NAFLD ), cirrhosis, and chronic progressive kidney disease...
2023: Case Reports in Ophthalmological Medicine
https://read.qxmd.com/read/38022260/optic-neuropathy-following-acute-decompensated-hypothyroidism-myxedema-crisis
#40
Dylan B McBee, Ping Hei A Lee, You Zhou, Saif Aldeen Alryalat, Andrew G Lee
Myxedema crisis (MC) refers to an unusual state of regulatory dysfunction precipitated by uncontrolled hypothyroidism. The pathogenic consequences of MC are broad and may contribute to significant bodily decompensation across multiple organ systems. However, shock-induced ischemic optic neuropathy (SION) in this setting has not been reported previously. Here, we present the case of a 76-year-old female with presumed bilateral optic neuropathy following abdominal surgery. The patient experienced a prolonged and complicated postoperative course in which she remained off supplemental levothyroxine...
October 2023: Curēus
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