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JOURNAL ARTICLE
Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao, Nan-Kai Wang
BACKGROUND: Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. CASE PRESENTATION: A 40-year-old female patient was referred to our department after undergoing aneurysm transcatheter arterial embolization for a brain aneurysm. She had no history of systemic diseases, except for unsatisfactory best-corrected visual acuity (BCVA) since elementary school...
April 19, 2024: BMC Medical Genomics
#2
Raluca Eugenia Iorga, Răzvana Sorina Munteanu-Dănulescu, Ciprian Danielescu
Leber's hereditary optic neuropathy (LHON) is the most common maternally inherited disease linked to mitochondrial DNA (mtDNA). The patients present with subacute asymmetric bilateral vision loss. Approximately 95% of the LHON cases are caused by m.3460G>A ( MTND1 ), m.11778G>A ( MTND4 ), and m.14484T>C ( MTND6 ) mutations. The hallmark of hereditary optic neuropathies determined by mitochondrial dysfunction is the vulnerability and degeneration of retinal ganglion cells (RGC). We present the case of a 28-year-old man who came to our clinic complaining of a subacute decrease in visual acuity of his left eye...
2024: Romanian Journal of Ophthalmology
#3
JOURNAL ARTICLE
Rachel Shemesh, Omry Frige, Sharon Garmider, Ruth Huna-Baron
Idiopathic intracranial hypertension (IIH) may result in optic nerve fiber loss and even atrophy. The timing of the optical coherence tomography (OCT) indices reaching the lowest point (nadir) and the factors that predict the patient's anatomical outcome are not known. We aimed to determine the timing and the factors that affect nadir retinal nerve fiber layer (RNFL) thickness. The medical records of 99 IIH patients who were treated from December 2009 to January 2020 were retrospectively reviewed. The mean RNFL thickness at presentation was 263...
April 14, 2024: Scientific Reports
#4
JOURNAL ARTICLE
Marco Lombardo, Andrea Cusumano, Raffaele Mancino, Francesco Aiello, Roberto Pietro Sorge, Carlo Nucci, Massimo Cesareo
Background: Blue-yellow axis dyschromatopsia is well-known in Autosomal Dominant Optic Atrophy (ADOA) patients, but there were no data on the correlation between retinal structure and short-wavelength automated perimetry (SWAP) values in this pathology. Methods: In this cross-sectional case-control study, we assessed the correlation between best corrected visual acuity (BCVA), standard automated perimetry (SAP), SWAP, and optical coherence tomography (OCT) parameters of 9 ADOA patients compared with healthy controls...
March 28, 2024: Journal of Clinical Medicine
#5
Chinatsu Takano, Shuntaro Ogura, Hironori Ozeki, Tsutomu Yasukawa, Miho Nozaki
We report a case of a 78-year-old man presenting with uncertain visual field loss, ultimately identified as posterior polar hemispheric choroidal dystrophy (PPHCD) using ultra-widefield fundus autofluorescence (FAF) and optical coherence tomography angiography (OCTA). The patient initially reported blurred vision in the left eye and had a previous diagnosis of suspected bilateral normal tension glaucoma based on optic nerve head excavation and static perimetry measurements. Detailed examination revealed suspicious retinal atrophy...
March 2024: Curēus
#6
JOURNAL ARTICLE
Menghan Li, Ya Shi, Qiuying Chen, Guangyi Hu, Jiamin Xie, Luyao Ye, Ying Fan, Jianfeng Zhu, Jiangnan He, Xun Xu
OBJECTIVE: This study aimed to investigate the influence of peripapillary atrophy (PPA) area and axial elongation on the longitudinal changes in macular choroidal thickness (ChT) in young individuals with myopia. METHODS AND ANALYSIS: In this longitudinal investigation, 431 eyes-342 categorised as non-high myopia (non-HM) and 89 as HM-were examined for 2 years. Participants were examined with swept-source optical coherence tomography. The macular ChT, PPA area and axial length (AL) were measured at baseline and follow-up visits...
April 8, 2024: BMJ Open Ophthalmology
#7
JOURNAL ARTICLE
Boon Peng Yap, Li Zhenghao Kelvin, En Qi Toh, Kok Yao Low, Sumaya Khan Rani, Eunice Jin Hui Goh, Vivien Yip Cherng Hui, Beng Koon Ng, Tock Han Lim
PURPOSE: To develop and validate a deep learning system (DLS) for estimation of vertical cup-to-disc ratio (vCDR) in ultra-widefield (UWF) and smartphone-based fundus images. METHODS: A DLS consisting of two sequential convolutional neural networks (CNNs) to delineate optic disc (OD) and optic cup (OC) boundaries was developed using 800 standard fundus images from the public REFUGE data set. The CNNs were tested on 400 test images from the REFUGE data set and 296 UWF and 300 smartphone-based images from a teleophthalmology clinic...
April 2, 2024: Translational Vision Science & Technology
#8
Kłaniewska M, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski R
Monoallelic pathogenic HMBS variants are a well-established cause of acute intermittent porphyria (AIP), whereas biallelic pathogenic variants may cause HMBS-related leukoencephalopathy which remains a poorly characterized disorder. We describe an 8-year-old girl with hypotonia, hearing impairment, horizontal nystagmus, bilateral strabismus, impaired visual acuity, and optic nerve atrophy. She had no epilepsy but sleep electroencephalogram showed paroxysmal changes in the right hemisphere with secondary generalizations...
April 3, 2024: American Journal of Medical Genetics. Part A
#9
JOURNAL ARTICLE
Yue Fu, Ying He, Huixuan Xie, Kongliang Sun, Hanjun Dai
BACKGROUND: Trauma-induced orbital blowout fracture (OBF) with eyeball displacement into the maxillary sinus is rare. CASE PRESENTATION: We present the case of a 14-year-old with a closed head injury, OBF, and displacement of the eyeball into the maxillary sinus following a car accident. A prompt transconjunctival access surgery was performed for eyeball repositioning and orbital reconstruction in a single session, mitigating anaesthesia-related risks associated with multiple surgeries...
April 3, 2024: BMC Ophthalmology
#10
JOURNAL ARTICLE
Yan Sun, Lumi Zhang, Hui Ye, Lumin Leng, Yi Chen, Yujie Su, Peifang Ren, Hong Lu, Guoping Peng
BACKGROUND: Posterior cortical atrophy (PCA) is a form of dementia that frequently displays significant visual dysfunction and relatively preserved cognitive and executive functions, thus hindering early diagnosis and treatment. This study aimed to investigate possible fundus markers in PCA patients and compare them with those of typical Alzheimer's disease (AD) patients to seek potential diagnostic patterns. METHODS: Age-matched PCA and AD patients and healthy controls (HC) completed optometry, intraocular pressure measurement, neuropsychologic assessments, optical coherence tomography (OCT), and optical coherence tomography angiography (OCTA) examination in one visit...
March 25, 2024: Alzheimer's Research & Therapy
#11
JOURNAL ARTICLE
Ruby Ross, Rachel Kenney, Laura J Balcer, Steven L Galetta, Lauren Krupp, Kimberly A O'Neill, Scott N Grossman
BACKGROUND: Myelin oligodendrocyte glycoprotein antibody disease (MOGAD) is a demyelinating disorder that most commonly presents with optic neuritis (ON) and affects children more often than adults. We report 8 pediatric patients with MOG-associated ON and characterize focal optical coherence tomography (OCT) abnormalities over time that help distinguish this condition from the trajectories of other demyelinating disorders. These OCT findings are examined in the context of longitudinal visual function testing...
March 25, 2024: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
#12
JOURNAL ARTICLE
Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname, Koichi Nakanishi
Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1, respectively. We describe a patient with digenic mutations in PAX2 and OPA1. A female infant was born without perinatal abnormalities. Magnetic resonance imaging at 4 months of age showed bilateral microphthalmia and optic nerve hypoplasia. Appropriate body size was present at 2 years of age, and mental development was favorable. Color fundus photography revealed severe retinal atrophy in both eyes...
March 11, 2024: Pediatric Nephrology
#13
JOURNAL ARTICLE
Therese Wallentin, Jakob Linnet, Mia B Lichtenstein, Nadja S Hansen, Johanne J Korsbæk, Lisbeth Høgedal, Snorre M Hagen, Laleh D Molander, Rigmor H Jensen, Dagmar Beier
BACKGROUND: Idiopathic intracranial hypertension (IIH) occurs more frequently in obese females of childbearing age. A link between eating disorders and poor outcome has been suggested but remains unproven. METHODS: This prospective field study at two tertiary headache centers included patients with clinically suspected IIH after standardized diagnostic work-up. Eating disorders were evaluated using validated questionnaires (EDQs). Primary outcome was the impact of eating disorders on IIH severity and outcome, secondary outcome was the prevalence and type of eating disorders in IIH compared to controls...
March 2024: Cephalalgia: An International Journal of Headache
#14
JOURNAL ARTICLE
Luca Bollo, Georgina Arrambide, Alvaro Cobo-Calvo, Javier V Alvarez, Manel Alberich, Sergio Cabello, Joaquín Castilló, Ingrid Galan, Luciana S Midaglia, Breogan Rodriguez Acevedo, Ana Zabalza, Agustin Pappolla, Neus Mongay Ochoa, Mar Tintore, Jordi Rio, Manuel Comabella, Carmen Tur, Cristina Auger, Jaume Sastre-Garriga, Alex Rovira, Xavier Montalban, Deborah Pareto, Angela Vidal-Jordana
BACKGROUND AND OBJECTIVES: We aimed to assess the presence of retinal neurodegeneration independent of optic neuritis (ON) in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and to investigate the development of trans-synaptic anterograde degeneration in these patients after ON. METHODS: Cross-sectional, retrospective study of 34 adult patients with MOGAD and 23 healthy controls (HC). Clinical, optical coherence tomography (OCT), and MRI data were collected...
April 9, 2024: Neurology
#15
JOURNAL ARTICLE
Federico Rissotto, Maria Vittoria Cicinelli, Andrea Servillo, Alessandro Berni, Matteo Menean, Lorenzo Bianco, Alessio Antropoli, Francesco Bandello, Elisabetta Miserocchi, Alessandro Marchese
PURPOSE: Vitreoretinal lymphoma (VRL) is a rare lymphoma affecting the vitreous and the retina. Clinical diagnosis is challenging and often delayed and may lead to aggravated prognosis. This study aims to review multimodal imaging findings in VRL. METHODS: We performed a comprehensive narrative review of the multimodal imaging findings that might be useful in the detection of VRL lesions. RESULTS: The most frequent ocular manifestations of VRL are vitritis, and retinal and sub-retinal Pigmented Epithelium (RPE) infiltrations...
March 4, 2024: Ocular Immunology and Inflammation
#16
JOURNAL ARTICLE
Maroun Khreish, Joel S Schuman, TingFang Lee, Zeinab Ghassabi, Ronald Zambrano, Jiyuan Hu, Hiroshi Ishikawa, Gadi Wollstein, Fabio Lavinsky
PURPOSE: To determine whether peripapillary atrophy (PPA) area is an indicator of glaucomatous structural and functional damage and progression. METHODS: In this retrospective longitudinal analysis from ongoing prospective study we qualified 71 eyes (50 subjects) with glaucoma. All subjects had a comprehensive ophthalmic examination, visual field (VF), and spectral-domain optical coherence tomography (OCT) testing in at least three visits. PPA was manually delineated on en face OCT optic nerve head scans, while observing the corresponding cross-sectional images, as the hyper-reflective area contiguous with the optic disc...
March 1, 2024: Translational Vision Science & Technology
#17
JOURNAL ARTICLE
Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arelin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl-Wildemann, Hagit Daum, Rachel Michaelson-Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valerio Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner
The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8 (GenBank: NM_007241.4), encoding the ESCRT-II subunit SNF8. The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death...
February 21, 2024: American Journal of Human Genetics
#18
Sammy Shihadeh, Madison M Patrick, Galen Postma, Brenda Trokthi, Charles Maitland
Various forms of cancer and chemotherapeutics are associated with optic neuropathy. Cisplatin is a platinum analogue chemotherapeutic commonly associated with ocular toxicity among many other serious adverse effects. Carboplatin is a more chemically stable platinum analogue that is generally better tolerated with a comparatively favorable side effect profile. There are very few reports of carboplatin precipitating optic neuropathy. This case report describes a rare occurrence of carboplatin-induced blinding optic neuropathy...
January 2024: Curēus
#19
JOURNAL ARTICLE
Stefan H Keller, Gary S Johnson, Garrett Bullock, Tendai Mhlanga-Mutangadura, Malte Schwartz, Savannah G Pattridge, Juyuan Guo, Gregg D Kortz, Martin L Katz
A progressive neurological disorder was observed in a male neutered Weimaraner. Clinical signs included fecal incontinence, lethargy, moderate paraparesis, proprioceptive pelvic limb ataxia, falling, cognitive decline, incoordination, decreased interest in food, changes in posture, and episodes of trance-like behavior. Neurologic signs were first observed at approximately 4 years, 10 months of age and progressed slowly. Magnetic resonance imaging showed generalized brain atrophy with areas of white matter pathology...
February 15, 2024: Genes
#20
JOURNAL ARTICLE
Levi Lankford, Rupalatha Maddala, Monica M Jablonski, P Vasantha Rao
The etiology of elevated intraocular pressure (IOP), a major risk factor for glaucoma (optic nerve atrophy), is poorly understood despite continued efforts. Although the gene variant of CACNA2D1 (encoding α2δ1), a calcium voltage-gated channel auxiliary subunit, has been reported to be associated with primary open-angle glaucoma, and the pharmacological mitigation of α2δ1 activity by pregabalin lowers IOP, the cellular basis for α2δ1 role in the modulation of IOP remains unclear...
February 17, 2024: Experimental Eye Research
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