10,807 results match your criteria Optic Atrophy


Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.

Authors:
Arif O Khan

J AAPOS 2021 Jun 21. Epub 2021 Jun 21.

Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western University, Cleveland, Ohio. Electronic address:

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Diagnostic ability of confocal near-infrared reflectance fundus imaging to detect retrograde microcystic maculopathy from chiasm compression. A comparative study with OCT findings.

PLoS One 2021 24;16(6):e0253323. Epub 2021 Jun 24.

Byers Eye Institute, Stanford University, Palo Alto, California, United States of America.

Purpose: To evaluate the ability of confocal near-infrared reflectance (NIR) to diagnose retrograde microcystic maculopathy (RMM) in eyes with temporal visual field (VF) loss and optic atrophy from chiasmal compression. To compare NIR findings with optical coherence tomography (OCT) findings in the same group of patients.

Methods: Thirty-four eyes (26 patients) with temporal VF loss from chiasmal compression and 41 healthy eyes (22 controls) underwent NIR fundus photography, and macular OCT scanning. Read More

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Microcystic macular degeneration in autosomal hereditary optic neuropathies: A cross-sectional retrospective study.

J Fr Ophtalmol 2021 Jun 16. Epub 2021 Jun 16.

Department of Neuro-ophthalmology, Fondation Adolphe de Rothschild Hospital, Paris, France; Centre for Clinical Research Investigations, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France.

Objective: Patients with autosomal optic neuropathies (AON) may develop microcystic macular degeneration (MMD), observed on retinal optical coherence tomography (OCT) examination. This study aimed to report the prevalence of MMD in AON patients and to assess the consequences of MMD on retinal architecture.

Methods: Retrospective single-center study conducted between 2001 and 2018. Read More

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Optic disc morphology in primary open-angle glaucoma versus primary angle-closure glaucoma in South India.

Indian J Ophthalmol 2021 Jul;69(7):1833-1838

Queensland Eye Institute, Queensland; Department of Ophthalmology, University of Brisbane, Australia.

Purpose: The aim of this study was to investigate the optic disc morphology in primary angle-closure glaucoma (PACG) versus primary open-angle glaucoma (POAG) in South Indians.

Methods: A total of 60 patients (60 eyes) with PACG and 52 patients (52 eyes) with POAG were included in a cross-sectional observational study. The glaucoma diagnosis was based on a glaucomatous appearance of the optic disc correlating with visual field defects. Read More

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Impact of Hypoxic Exercise Recovery on Skeletal Muscle Glycogen and Gene Expression.

High Alt Med Biol 2021 Jun 17. Epub 2021 Jun 17.

School of Integrative Physiology and Athletic Training, University of Montana, Missoula, Montana, USA.

Slivka, Dustin, Charles Dumke, Walter Hailes, and Brent Ruby. Impact of hypoxic exercise recovery on skeletal muscle glycogen and gene expression. 00:000-000, 2021. Read More

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Macular vessel density differs in multiple sclerosis and neuromyelitis optica spectrum disorder: An optical coherence tomography angiography study.

PLoS One 2021 17;16(6):e0253417. Epub 2021 Jun 17.

Department of Ophthalmology, Chair of Ophthalmology and Optometry, Poznan University of Medical Sciences, Poznan, Poland.

Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are inflammatory and demyelinating diseases that commonly manifest with optic neuritis (ON) but differ in the pathogenic mechanism. Although it was shown that retinal vessels might alter in MS and NMOSD, a comparative study has not been reported. This study evaluated the macular vessel density in 40 MS patients, 13 NMOSD patients, and 20 controls using optical coherence tomography angiography. Read More

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Morphological changes in the lacrimal gland of Anophthalmic socket in relation to the contralateral normal eye in male Wistar albino rats- A histopathology study.

Curr Eye Res 2021 Jun 17. Epub 2021 Jun 17.

Department of Optometry, Sushant School of Optometry, Ansal University, Gurgaon, Haryana, India.

Purpose: The purpose of the study is to analyze the structural and functional alterations of the lacrimal gland and its tear secretion post-enucleation in Wistar rats.

Method: Adult male rats (n=15) of 8-weeks-old were randomly assigned into three groups viz. control, sham, and experimental group (n=5). Read More

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[A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy].

Nan Fang Yi Ke Da Xue Xue Bao 2021 May;41(5):789-792

Beijing Haidian District Traditional Chinese Medicine Hospital, Beijing 100080, China.

Objective: To investigate the pathogenic gene in a child with optic atrophy and analyze the influence of this gene mutation on protein structure.

Objective: We collected the clinical record of the 13-year-old girl and her relatives. The child received examinations of the visual acuity, visual field, fundus, OCT, visual-evoked potential (VEP) and the nerve system, underwent brain MRI and was followed up for 1 year. Read More

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Endogenous ocular nocardiosis.

GMS Ophthalmol Cases 2021 17;11:Doc10. Epub 2021 May 17.

York General Hospital, Ophthalmology Department, York, United Kingdom.

Nocardiosis is an extremely rare, opportunistic, Gram-positive bacterial infection that has a high mortality rate in those patients who are immunocompromised in the presence of disseminated disease. We describe a case of an elderly lady being treated with high-dose corticosteroids for giant cell arteritis that presented with ischaemic optic atrophy. Subsequent deterioration was accompanied by the development of subretinal lesions. Read More

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The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

Front Neurosci 2021 26;15:618098. Epub 2021 May 26.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

KIF1A is a microtubule-dependent motor protein responsible for fast anterograde transport of synaptic vesicle precursors in neurons. Pathogenic variants in have been associated with a wide spectrum of neurological disorders. Here, we report a patient presenting a severe neurodevelopmental disorder carrying a novel missense variant p. Read More

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Early efficacy of teprotumumab for the treatment of dysthyroid optic neuropathy: A multicenter study.

Am J Ophthalmol Case Rep 2021 Sep 14;23:101111. Epub 2021 May 14.

Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, USA.

Purpose: To study post-interventional findings in patients with dysthyroid optic neuropathy (DON) treated with teprotumumab.

Observations: In this multicenter observational Case series patients with DON were treated with teprotumumab, an insulin-like growth factor I receptor inhibitor (10 mg/kg for the first infusion then 20 mg/kg for subsequent infusions, every three weeks for a total 8 infusions). This study included patients with acute and chronic thyroid eye disease (TED) with DON who had failed conventional therapies and were not candidates for surgical decompression. Read More

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September 2021

Peripapillary Halo in Inflammatory Papillitis of Birdshot Chorioretinopathy.

Clin Ophthalmol 2021 3;15:2327-2333. Epub 2021 Jun 3.

Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.

Purpose: Peripapillary halos (PPH) are peripapillary changes observed surrounding the optic nerve head in normal eyes and eyes with different disorders. Recognizing the microstructure and mechanism of development of these halos will help clinicians understand the different associated retinal and optic nerve head pathologies. We describe the in vivo histological characteristics of PPH in birdshot chorioretinopathy (BSCR). Read More

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Short Stature With Optic Atrophy and Cone Dystrophy.

JAMA Ophthalmol 2021 Jun 10. Epub 2021 Jun 10.

Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.

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Optic Neuritis-Independent Retinal Atrophy in Neuromyelitis Optica Spectrum Disorder.

J Neuroophthalmol 2021 May 17. Epub 2021 May 17.

Department of Neurology (AGF, ESV, KCF, GK, JL, MAM, EMM, SS, PAC, ESS), Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Electrical and Computer Engineering (YH, YL, JLP), Johns Hopkins University, Baltimore, Maryland; Viela Bio (MAM), Gaithersburg, Maryland; and Department of Neurology (ML), Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

Background: A limited number of studies have investigated the presence of ongoing disease activity independent of clinical relapses in neuromyelitis optica spectrum disorder (NMOSD), and data are conflicting. The objective of our study was to examine whether patients with aquaporin-4 (AQP4)-IgG seropositive NMOSD exhibit progressive retinal neuroaxonal loss, independently of optic neuritis (ON) attacks.

Methods: In this single-center, longitudinal study, 32 AQP4-IgG+ NMOSD patients and 48 healthy controls (HC) were followed with serial spectral-domain optical coherence tomography and visual acuity (VA) assessments. Read More

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Serum neurofilament levels reflect outer retinal layer changes in multiple sclerosis.

Ther Adv Neurol Disord 2021 25;14:17562864211003478. Epub 2021 May 25.

Department of Neurology, Focus Program Translational Neuroscience (FTN), Rhine Main Neuroscience Network (rmn), University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, Mainz 55131, Germany.

Background: Serum neurofilament light chain (sNfL) and distinct intra-retinal layers are both promising biomarkers of neuro-axonal injury in multiple sclerosis (MS). We aimed to unravel the association of both markers in early MS, having identified that neurofilament has a distinct immunohistochemical expression pattern among intra-retinal layers.

Methods: Three-dimensional (3D) spectral domain macular optical coherence tomography scans and sNfL levels were investigated in 156 early MS patients (female/male: 109/47, mean age: 33. Read More

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Detecting retinal cell stress and apoptosis with DARC: Progression from lab to clinic.

Prog Retin Eye Res 2021 Jun 5:100976. Epub 2021 Jun 5.

Western Eye Hospital Imperial College Healthcare NHS Trust, London, UK; ICORG, Imperial College, London, UK.

DARC (Detection of Apoptosing Retinal Cells) is a retinal imaging technology that has been developed within the last 2 decades from basic laboratory science to Phase 2 clinical trials. It uses ANX776 (fluorescently labelled Annexin A5) to identify stressed and apoptotic cells in the living eye. During its development, DARC has undergone biochemistry optimisation, scale-up and GMP manufacture and extensive preclinical evaluation. Read More

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Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease.

Sci Rep 2021 Jun 7;11(1):11904. Epub 2021 Jun 7.

Department of Ophthalmology, Key Laboratory of Ocular Fundus Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Dongcheng District, Beijing, 100730, China.

NLRP3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems. We aim to assess the ocular manifestations of Chinese adult patients with NLRP3-AID. Twelve adult patients (> 18 years old) were diagnosed as NLRP3-AID at the Department of Rheumatology, Peking Union Medical College Hospital. Read More

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ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.

BMC Ophthalmol 2021 Jun 5;21(1):249. Epub 2021 Jun 5.

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague, Czech Republic.

Background: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. Read More

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Stomatin-Like Protein-2: A Potential Target to Treat Mitochondrial Cardiomyopathy.

Heart Lung Circ 2021 Jun 1. Epub 2021 Jun 1.

Department of Thoracic and Cardiovascular Surgery, Nanjing First Hospital, Nanjing Medical University, Jiangsu, China. Electronic address:

Stomatin-like protein-2 (SLP-2) is a mitochondrial-associated protein that is abundant in cardiomyocytes. Many reports have shown that SLP-2 plays an important role in mitochondria. The treatment of mitochondrial cardiomyopathy (MCM) needs further improvement, so the relationship between SLP-2 and MCM is worth exploring. Read More

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HIGD‑1B inhibits hypoxia‑induced mitochondrial fragmentation by regulating OPA1 cleavage in cardiomyocytes.

Mol Med Rep 2021 Aug 3;24(2). Epub 2021 Jun 3.

Department of Cardiology, The First Affiliated Hospital, Guangxi University of Chinese Medicine, Nanning, Guangxi 530023, P.R. China.

The dynamic regulation of mitochondrial morphology is key for eukaryotic cells to manage physiological challenges. Therefore, it is important to understand the molecular basis of mitochondrial dynamic regulation. The aim of the present study was to explore the role of HIG1 hypoxia inducible domain family member 1B (HIGD‑1B) in hypoxia‑induced mitochondrial fragmentation. Read More

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Opa1 Deficiency Promotes Development of Retinal Vascular Lesions in Diabetic Retinopathy.

Int J Mol Sci 2021 May 31;22(11). Epub 2021 May 31.

Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA.

This study investigates whether reduced optic atrophy 1 () level promotes apoptosis and retinal vascular lesions associated with diabetic retinopathy (DR). Four groups of mice: wild type (WT) control mice, streptozotocin (STZ)-induced diabetic mice, mice, and diabetic mice were used in this study. 16 weeks after diabetes onset, retinas were assessed for Opa1 and Bax levels by Western blot analysis, and retinal networks were examined for acellular capillaries (AC) and pericyte loss (PL). Read More

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Dominant mutations are a frequent cause of isolated optic atrophy.

Brain Commun 2021 7;3(2):fcab063. Epub 2021 Apr 7.

Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

Biallelic mutations in , encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal degeneration and recessive optic neuropathies (locus OPA9). By screening European cohorts of individuals with genetically unsolved inherited optic neuropathies, we identified 61 cases harbouring variants in , among whom 50 carried dominant mutations, emphasizing for the first time the important contribution of monoallelic pathogenic variants to dominant optic atrophy. Analysis of the ophthalmological and clinical data revealed that recessive cases are affected more severely than dominant cases, while not significantly earlier. Read More

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Phosphodiesterase Type 5 Inhibitors and Visual Side Effects: A Narrative Review.

J Ophthalmic Vis Res 2021 Apr-Jun;16(2):248-259. Epub 2021 Apr 29.

Federal University of Ceara, Fortaleza, Ceara, Brazil.

Phosphodiesterase type 5 inhibitors such as sildenafil citrate and tadalafil are well known for the treatment of erectile dysfunction. However, their use in the presence of pulmonary hypertension can cause ophthalmologic side effects, including non-arteritic optic ischemic neuropathy, chorioretinopathy, glaucoma, and optic atrophy. The present review aimed to identify these visual side effects and provide recommendations. Read More

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Case Report: A Variant Non-ketotic Hyperglycinemia With Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Front Genet 2021 13;12:605778. Epub 2021 May 13.

Neurology Department, National Center for Children's Health China, Beijing Children Hospital Affiliated to Capital Medical University, Beijing, China.

Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by variable clinical, biochemical and imaging features. Herein, we report a girl with variant NKH with two mutations in glutaredoxin 5 (), which has been described in only three patients. Read More

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Tang Luo Ning, a Traditional Chinese Compound Prescription, Ameliorates Schwannopathy of Diabetic Peripheral Neuropathy Rats by Regulating Mitochondrial Dynamics and .

Front Pharmacol 2021 14;12:650448. Epub 2021 May 14.

School of Traditional Chinese Medicine, Capital Medical University, Beijing, China.

Tang Luo Ning (TLN), a traditional Chinese compound prescription, has been used clinically to treat diabetic peripheral neuropathy (DPN) in China. However, the exact mechanisms remain unclear. The objective of this study is to unravel the effects of TLN on mitochondrial dynamics of DPN in streptozotocin-induced rat models and Schwann cells cultured in 150 mM glucose. Read More

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Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?

J Neuroinflammation 2021 May 29;18(1):121. Epub 2021 May 29.

Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.

Background: To investigate age-related severity, patterns of retinal structural damage, and functional visual recovery in pediatric and adult cohorts of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) optic neuritis (ON).

Methods: All MOGAD patients from the 5 participating centers were included. Patients with initial manifestation <18 years were included in the pediatric (MOGAD) cohort and patients with ≥18 years in the adult (MOGAD) cohort. Read More

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Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography.

BMC Ophthalmol 2021 May 28;21(1):239. Epub 2021 May 28.

Beijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 17 Hougou Lane, Chongnei Street, 100005, Beijing, People's Republic of China.

Background: Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1-5 years with fundus fluorescein angiography (FFA) to observe BCD disease progression.

Methods: FFA images were collected for 12 patients with BCD who visited our clinic twice or more over a 5-year period. Read More

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The impact of optic disk morphological characteristics on peripapillary retinal nerve fiber layer thickness in non-glaucomatous subjects with high myopia.

Photodiagnosis Photodyn Ther 2021 May 25;35:102355. Epub 2021 May 25.

MD, Associate Professor, Department of Ophthalmology, University of Health Sciences, Ankara Ulucanlar Eye Education and Research Hospital, Ankara, Turkey.

Background: To analyze peripapillary retinal nerve fiber layer (pRNFL) thickness (pRNFLT) alterations in non-glaucomatous eyes with high myopia (HM), and to describe its relationship with some optic disk (OD) morphologic features.

Methods: A cross-sectional case-control study includes 185 Caucasian subjects with HM and 122 healthy controls. Results of the pRNFLT analysis provided by optical coherence tomography were compared between the HM and control group, and the effects of some morphological features of OD, including tilt, OD radius, and peripapillary chorioretinal atrophy (pCRA) extension, on pRNFLT analysis were investigated. Read More

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Machine learning algorithms reveal the secrets of mitochondrial dynamics.

EMBO Mol Med 2021 Jun 27;13(6):e14316. Epub 2021 May 27.

Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

Mitochondria exist as dynamic networks whose morphology is driven by the complex interplay between fission and fusion events. Failure to modulate these processes can be detrimental to human health as evidenced by dominantly inherited, pathogenic variants in OPA1, an effector enzyme of mitochondrial fusion, that lead to network fragmentation, cristae dysmorphology and impaired oxidative respiration, manifesting typically as isolated optic atrophy. However, a significant number of patients develop more severe, systemic phenotypes, although no genetic modifiers of OPA1-related disease have been identified to date. Read More

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Surgical approach in a case of unilateral retinal pigment epithelium dysgenesis and literature review.

Am J Ophthalmol Case Rep 2021 Sep 11;23:101116. Epub 2021 May 11.

Department of Ophthalmology, University of Thessaly, Larissa, Greece.

Purpose: To present a case of unilateral retinal pigment epithelium dysgenesis (URPED) complicated with tractional retinal detachment and macular hole formation, and highlight the successful anatomical and functional restoration following surgical repair. To conduct an updated review of the literature.

Observations: A 16-year-old asymptomatic female presented with a unilateral atypical peripapillary lesion of the retinal pigment epithelium (RPE) in the left eye. Read More

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September 2021