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MCID: OPT006
MIFTS: 60

Optic Nerve Disease

Categories: Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Optic Nerve Disease

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MalaCards integrated aliases for Optic Nerve Disease:

Name: Optic Nerve Disease 12 15
Optic Neuropathy 12 37 29 55 6 15 73
Abnormality of the Optic Nerve 6
Disorder of the Second Nerve 12
Disorder of the Optic Nerve 73
Optic Nerve Disorders 43
Optic Nerve Disorder 12
Optic Nerve 76

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:1891
MeSH 44 D009901
NCIt 50 C79698
SNOMED-CT 68 77157004
KEGG 37 H01719
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Summaries for Optic Nerve Disease

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MedlinePlus : 43 The optic nerve is a bundle of more than 1 million nerve fibers that carry visual messages. You have one connecting the back of each eye (your retina) to your brain. Damage to an optic nerve can cause vision loss. The type of vision loss and how severe it is depends on where the damage occurs. It may affect one or both eyes. There are many different types of optic nerve disorders, including: Glaucoma is a group of diseases that are the leading cause of blindness in the United States. Glaucoma usually happens when the fluid pressure inside the eyes slowly rises and damages the optic nerve. Optic neuritis is an inflammation of the optic nerve. Causes include infections and immune-related illnesses such as multiple sclerosis. Sometimes the cause is unknown. Optic nerve atrophy is damage to the optic nerve. Causes include poor blood flow to the eye, disease, trauma, or exposure to toxic substances. Optic nerve head drusen are pockets of protein and calcium salts that build up in the optic nerve over time Contact your health care provider if you are having vision problems. Tests for optic nerve disorders may include eye exams, ophthalmoscopy (an examination of the back of your eye), and imaging tests. Treatment depends on which disorder that you have. With some optic nerve disorders, you may get your vision back. With others, there is no treatment, or treatment may only prevent further vision loss.

MalaCards based summary : Optic Nerve Disease, also known as optic neuropathy, is related to leber hereditary optic neuropathy and ischemic optic neuropathy, and has symptoms including sciatica and eye manifestations. An important gene associated with Optic Nerve Disease is MT-ND1 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1), and among its related pathways/superpathways are Glucose / Energy Metabolism and GABAergic synapse. The drugs Dorzolamide and Timolol have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 A cranial nerve disease that is located in the optic nerve.

Wikipedia : 76 The optic nerve, also known as cranial nerve II, or simply as CN II, is a paired nerve that transmits... more...

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Related Diseases for Optic Nerve Disease

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Diseases related to Optic Nerve Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 824)
# Related Disease Score Top Affiliating Genes
1 leber hereditary optic neuropathy 34.2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MYOC NDUFA1
2 ischemic optic neuropathy 33.9 EDN1 MT-ND1 PDE5A
3 leber optic atrophy and dystonia 33.7 MT-ND1 MT-ND4 MT-ND6
4 leber optic atrophy 32.8 MT-ND1 MT-ND4 MT-ND5 MT-ND6
5 optic atrophy 1 32.3 DNM1L MFN2 OPA1
6 3-methylglutaconic aciduria, type iii 32.3 BTD DNM1L MFN2 MT-ND4 MT-ND6 OPA1
7 mitochondrial complex i deficiency 32.2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
8 spastic paraplegia 7, autosomal recessive 31.9 MFN2 MT-ND4 OPA1
9 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 31.8 MT-ND1 MT-ND4 MT-ND5 MT-ND6
10 optic neuritis 31.8 AQP4 MOG MT-ND4
11 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 31.8 OPA1 OPA3
12 glaucoma, normal tension 31.7 OPA1 OPTN
13 low tension glaucoma 30.6 EDN1 MYOC OPTN
14 acute closed-angle glaucoma 30.3 MFRP OPTN
15 primary angle-closure glaucoma 30.3 MFRP MYOC OPTN
16 nervous system disease 30.1 AQP4 MFRP MOG OPTN
17 kearns-sayre syndrome 30.1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
18 peripheral nervous system disease 30.0 AQP4 DNM1L MFN2 MFRP MOG MT-ND4
19 mitochondrial metabolism disease 30.0 MT-ND4 MT-ND5 MT-ND6 NDUFA1 OPA1
20 leigh syndrome 30.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
21 amblyopia 29.9 MFRP MT-ND4 OPTN
22 scotoma 29.9 DNM1L MT-ND4 OPA1
23 glaucoma 1, open angle, a 29.9 MYOC OPTN
24 neuropathy 29.8 MFN2 MT-ND1 MT-ND4 MT-ND5 MT-ND6
25 lactic acidosis 29.8 KARS MT-ND1 MT-ND4 MT-ND5 MT-ND6
26 nonarteritic anterior ischemic optic neuropathy 12.7
27 coloboma of optic nerve 12.7
28 optic nerve glioma 12.6
29 optic nerve neoplasm 12.5
30 short stature, optic nerve atrophy, and pelger-huet anomaly 12.4
31 chronic relapsing inflammatory optic neuropathy 12.4
32 optic nerve astrocytoma 12.3
33 optic nerve hypoplasia, familial bilateral 12.3
34 toxic optic neuropathy 12.3
35 papillorenal syndrome 12.3
36 childhood optic nerve glioma 12.3
37 nutritional optic neuropathy 12.3
38 arteritic anterior ischemic optic neuropathy 12.3
39 bilateral meningioma of optic nerve 12.2
40 autoimmune-related retinopathy and optic neuropathy 12.2
41 myelinated optic nerve fibers 12.1
42 cortical dysplasia, complex, with other brain malformations 8 12.1
43 foveal hypoplasia 2 11.9
44 microphthalmia, syndromic 3 11.8
45 oculo-cerebral dysplasia 11.8
46 septooptic dysplasia 11.6
47 splenomegaly, cytopenia, and vision loss 11.6
48 glaucoma-related pigment dispersion syndrome 11.5
49 optic atrophy 3, autosomal dominant 11.5
50 roifman-chitayat syndrome 11.4

Graphical network of the top 20 diseases related to Optic Nerve Disease:



Diseases related to Optic Nerve Disease
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Symptoms & Phenotypes for Optic Nerve Disease

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UMLS symptoms related to Optic Nerve Disease:


sciatica, eye manifestations

MGI Mouse Phenotypes related to Optic Nerve Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 AQP4 BTD DNM1L MFN2 MOG NDUFA1
2 growth/size/body region MP:0005378 10.06 AQP4 BTD DNM1L EDN1 MFN2 MOG
3 homeostasis/metabolism MP:0005376 10.03 AQP4 BTD DNM1L EDN1 MFN2 MT-ND6
4 muscle MP:0005369 9.76 BTD DNM1L EDN1 MFN2 MOG MT-ND6
5 nervous system MP:0003631 9.7 AQP4 DNM1L EDN1 MFN2 MFRP MOG
6 vision/eye MP:0005391 9.32 AQP4 BTD DNM1L MFRP MOG MT-ND6
Sources

Drugs & Therapeutics for Optic Nerve Disease

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Drugs for Optic Nerve Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 350)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4,Phase 2,Not Applicable 120279-96-1 5284549 3154
2
Timolol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 26839-75-8 33624 5478
3
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 53-03-2 5865
4
Mycophenolic acid Approved Phase 4 24280-93-1 446541
5
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
6
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 216974-75-3
7
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-24-8 5755
9
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 302-25-0
10
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2921-57-5
11
Brinzolamide Approved Phase 4,Phase 3 138890-62-7 68844
12
Travoprost Approved Phase 4,Phase 3 157283-68-6 5282226
13
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
14
4-Aminopyridine Approved Phase 4,Phase 2,Phase 3 504-24-5 1727
15
Levodopa Approved Phase 4 59-92-7 6047
16
Dopamine Approved Phase 4,Not Applicable 51-61-6, 62-31-7 681
17
Carbidopa Approved Phase 4 28860-95-9 34359 38101
18
Methimazole Approved Phase 4 60-56-0 1349907
19
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
20
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
21
Propranolol Approved, Investigational Phase 4 525-66-6 4946
22
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
23
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
24
Ranibizumab Approved Phase 4,Phase 2,Phase 1 347396-82-1 459903
25
Interferon beta-1a Approved, Investigational Phase 4 145258-61-3 6438354
26
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
27
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
28
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
29
Minocycline Approved, Investigational Phase 4,Phase 2 10118-90-8 5281021
30
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
31
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 59-30-3 6037
33
Choline Approved, Nutraceutical Phase 4,Not Applicable 62-49-7 305
34
Maleic acid Experimental Phase 4,Phase 1 110-16-7 444266
35
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2920-86-7
36 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Carbonic Anhydrase Inhibitors Phase 4,Phase 2,Not Applicable
40 Adrenergic Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2,Not Applicable
44 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2,Not Applicable
45 Adrenergic Agonists Phase 4,Phase 3,Phase 2,Not Applicable
46 Brimonidine Tartrate Phase 4,Phase 3,Phase 2,Not Applicable 70359-46-5
47 Brimonidine Tartrate, Timolol Maleate Drug Combination Phase 4
48 Ophthalmic Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 350)
# Name Status NCT ID Phase Drugs
1 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
2 Efficacy and Safety Study of Combigan and 0.5% Timoptic in Normal Tension Glaucoma Unknown status NCT01446497 Phase 4 Brimonidine/Timolol mixed combination;Timolol
3 Mycophenolate Mofetil Treatment With Neuromyelitis Optica Spectrum Disorders in Chinese Patients Unknown status NCT02809079 Phase 4 Mycophenolate mofetil;Prednisone
4 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4 Mitoxantrone
5 Neural Conduction Along the Visual Pathways After Oral Treatment With Citicoline in Patients With Optic Nerve Diseases Completed NCT00404729 Phase 4 Cytidine-5’-diphosphocholine (Citicoline)
6 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
7 A New Medicine to Treat Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT01975324 Phase 4 dalfampridine;Placebo
8 Effect of Levodopa-Carbidopa on Visual Function in Patients With Recent-Onset Nonarteritic Anterior Ischemic Optic Neuropathy Completed NCT00432393 Phase 4 levodopa-carbidopa
9 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4 Bevacizumab;Control
10 Brimonidine vs ALTP in Progressing Human Glaucoma Completed NCT00466479 Phase 4 brimonidine
11 Preoperative Brimonidine on IOP of Patients Undergoing RALP Completed NCT02818816 Phase 4 brimonidine tartrate 0.2%
12 Liver Function After Intravenous Methylprednisolone Administration Completed NCT03667157 Phase 4 every week IVMP therapy;very high doses IVMP therapy
13 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
14 Pharmacokinetics and Optimal Timing of Dronedarone Initiation Following Long-term Amiodarone in Patients With Paroxysmal or Persistent Atrial Fibrillation Completed NCT01199081 Phase 4 Dronedarone
15 Additive Effect of Twice-daily Brinzolamide 1% / Brimonidine 0.2%Combination as an Adjunctive Therapy to Travoprost in Patients With Normal Tension Glaucoma Completed NCT03150160 Phase 4 brinzolamide 1% / brimonidine 0.2%;Placebo
16 Efficacy and Safety of COMBIGAN® in Korean Patients With Primary Open Angle Glaucoma (POAG) and Normal Tension Glaucoma (NTG) Completed NCT02863705 Phase 4 brimonidine tartrate/timolol malate Ophthalmic Solution;bimatoprost ophthalmic solution 0.01%
17 Investigation of Intraocular Pressure (IOP) Reduction Efficacy of Travoprost Ophthalmic Solution in Patients With Normal Tension Glaucoma Completed NCT01995136 Phase 4 Travoprost Ophthalmic Solution 0.004%
18 Treatment of Diabetic Macular Edema (DME) With Anti-VEGF and Focal Laser Completed NCT03590444 Phase 4 Ranibizumab 0.5 MG/0.05 ML Intraocular Solution
19 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
20 Pegaptanib for Retinal Edema Secondary to Diabetic Vascular Disease(Preserve) Study Completed NCT01486238 Phase 4 Macugen® pegaptanib sodium
21 Long Term Study of Avonex Therapy Following a First Attack of Multiple Sclerosis Completed NCT00179478 Phase 4 interferon beta 1a 30 ug IM once weekly
22 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4 Idebenone
23 Antiacne Medications Pseudotumor Cerebri Recruiting NCT02149615 Phase 4
24 A Trial of Neuroprotection With ACTH in Acute Optic Neuritis Recruiting NCT01838174 Phase 4 ACTHAR Gel (ACTH);IV methylprednisolone (steroids)
25 Peripapillary Blood Flow After Use of Anti-glaucoma Medications: An OCT Angiography Study Active, not recruiting NCT03323164 Phase 4 Timolol Maleate;Brimonidine Tartrate
26 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
27 PDE5 Inhibitor Use and Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Terminated NCT00867815 Phase 4 Diagnostic procedures
28 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Withdrawn NCT02055911 Phase 4 Ranibizumab
29 Induction Therapy With a Single High Dose Bolus of Intravenous Methotrexate With Leucovorin Rescue, Prior to Initiation of AVONEX® Treatment, in Patients Presenting With a First Acute Demyelinating Event. Withdrawn NCT00037115 Phase 4 interferon beta 1a;methotrexate;methylprednisolone
30 Outcomes of Steroid and Oxygen Therapy Versus Placebo Therapy in Non-arteritic Anterior Ischemic Optic Neuropathy Unknown status NCT02439866 Phase 3 placebo;Intravenous methylprednisolone;normobaric oxygen with face mask
31 Retrobulbar Triamcinolone Acetonide Injection in the Treatment of NA-AION Unknown status NCT02329288 Phase 3 Triamcinolone Acetonide;placebo
32 Intraocular Pressure (IOP) Lowering Effect of Selective Laser Trabeculoplasty Versus Prostaglandin Analogues in Angle Closure Glaucoma Unknown status NCT01004900 Phase 3 Travoprost/ Timolol/ Azopt/ Brimonidine
33 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
34 Simvastatin Treatment of Patients With Acute Optic Neuritis Unknown status NCT00261326 Phase 3 simvastatin;placebo
35 Phase III Randomized, Double-Blind, Sham-Controlled Study of Plasma Exchange for Acute Severe Attacks of Inflammatory Demyelinating Disease Refractory to Intravenous Methylprednisolone Unknown status NCT00004645 Phase 3
36 Optic Neuritis Treatment Trial (ONTT) Unknown status NCT00000146 Phase 3 Methylprednisolone;Prednisone
37 Ischemic Optic Neuropathy Decompression Trial (IONDT) Completed NCT00000127 Phase 3
38 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
39 Paraorbital-Occipital Electric Stimulation in Patients With Optic Neuropathy (BCT_optnerve) Completed NCT01282827 Phase 2, Phase 3
40 Optic Neuritis Recovery After Oral or IV Corticosteroids Completed NCT01524250 Phase 2, Phase 3 corticosteroids;corticosteroids
41 A Randomized, Double-blind, Placebo-controlled, Multicenter Study of the Effects of Glatiramer Acetate (GA) on the Retinal Nerve Fiber Layer (RNFL) and Visual Function in Patients With a First Episode of Acute Optic Neuritis (AON). (Octagon) Completed NCT00856635 Phase 3 Glatiramer Acetate;placebo
42 Intravenous Immunoglobulin Therapy in Optic Neuritis Completed NCT00000117 Phase 3 Immunoglobulin
43 Comparison of Clinical Effects of Azathioprine and Rituximab NMO-SD Patients Completed NCT03002038 Phase 2, Phase 3 Azathioprine;Rituximab
44 A Double Blind Trial To Evaluate The Safety And Efficacy Of Eculizumab In Relapsing NMO Patients (PREVENT Study) Completed NCT01892345 Phase 3 Eculizumab
45 Ozurdex for Macular Edema Post Membrane Peeling Completed NCT01273727 Phase 2, Phase 3 Dexamethasone;dexamethasone
46 Ampyra for Optic Neuritis in MS Completed NCT01337986 Phase 2, Phase 3 Dalfampridine/Placebo;Placebo/Dalfampridine
47 Traumatic Optic Neuropathy Treatment Trial 2 Recruiting NCT03308448 Phase 3 Recombinant human erythropoietin
48 Efficacy & Safety of RPh201 Treatment in Patients With Previous Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03547206 Phase 3 RPh201
49 Phase 2/3, Randomized, Double-Masked, Sham-Controlled Trial of QPI-1007 in Subjects With Acute Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT02341560 Phase 2, Phase 3 QPI-1007 Injection - 1.5 mg;QPI-1007 Injection - 3.0 mg
50 ENDOTHELION Study Group: Effect of Bosentan in NAION Patients Recruiting NCT02377271 Phase 3 bosentan;placebo

Search NIH Clinical Center for Optic Nerve Disease

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Genetic Tests for Optic Nerve Disease

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Genetic tests related to Optic Nerve Disease:

# Genetic test Affiliating Genes
1 Optic Neuropathy 29
Sources

Anatomical Context for Optic Nerve Disease

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MalaCards organs/tissues related to Optic Nerve Disease:

41
Eye, Retina, Brain, Testes, Thyroid, Bone, Liver

The Foundational Model of Anatomy Ontology organs/tissues related to Optic Nerve Disease:

19
The Optic Nerve
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Publications for Optic Nerve Disease

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Articles related to Optic Nerve Disease:

(show top 50) (show all 2358)
# Title Authors Year
1
Leber's hereditary optic neuropathy: Shifting our attention to the macula. ( 30505979 )
2019
2
Gene therapy in optic nerve disease. ( 29538182 )
2018
3
Hyperhomocysteinemia in bilateral anterior ischemic optic neuropathy after conventional coronary artery bypass graft: a case report. ( 29338755 )
2018
4
Pseudohemangioma in Nonarteritic Anterior Ischemic Optic Neuropathy. ( 29784095 )
2018
5
Diffusion-Weighted Imaging Changes in a Child With Posterior Ischemic Optic Neuropathy. ( 29859720 )
2018
6
Quantitative analysis of optical coherence tomographic angiography (OCT-A) in patients with non-arteritic anterior ischemic optic neuropathy (NAION) corresponds to visual function. ( 29953490 )
2018
7
Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for <i>OPA1/OPA3/LHON</i>. ( 29563951 )
2018
8
Could Buerger's disease cause nonarteritic anterior ischemic optic neuropathy?: a rare case report. ( 29623524 )
2018
9
Safety of rAAV2/2-ND4 Gene Therapy for Leber Hereditary Optic Neuropathy. ( 29426586 )
2018
10
Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy. ( 29750122 )
2018
11
Longterm Reversal of Severe Visual Loss by Mitochondrial Gene Transfer in a Mouse Model of Leber Hereditary Optic Neuropathy. ( 29615737 )
2018
12
Late-onset Leber hereditary optic neuropathy presenting after intraocular surgery. ( 29784175 )
2018
13
Evaluation of a Relative Afferent Pupillary Defect using the RAPDx<sup>Ar</sup> Device Before and After Treatment in Patients with Optic Nerve Disease. ( 29796046 )
2018
14
Optic neuropathy and congenital glaucoma associated with probable Zika virus infection in Venezuelan patients. ( 29896405 )
2018
15
Ischemic Optic Neuropathy in a Dog with Acute Bilateral Blindness and Primary Systemic Hypertension. ( 29130572 )
2018
16
Optical coherence tomography angiography changes in radial peripapillary capillaries in Leber hereditary optic neuropathy. ( 29468220 )
2018
17
An Unforeseeable Complication; Posterior Ischemic Optic Neuropathy after Penetrating Injury to the Heart. ( 29719851 )
2018
18
Retinal and Choroidal Microvasculature in Nonarteritic Anterior Ischemic Optic Neuropathy: An Optical Coherence Tomography Angiography Study. ( 29490340 )
2018
19
Postoperative Posterior Ischemic Optic Neuropathy After Left Far-Lateral Craniectomy for Resection of Craniocervical Meningioma. ( 29627627 )
2018
20
MRI of the Optic Nerves and Chiasm in Patients With Leber Hereditary Optic Neuropathy. ( 29300239 )
2018
21
Track-weighted imaging for neuroretina: Evaluations in healthy volunteers and ischemic optic neuropathy. ( 29292557 )
2018
22
Protective effects of Rutin against methanol induced acute toxic optic neuropathy: an experimental study. ( 29862175 )
2018
23
Intravitreal Triamcinolone Acetonide Injection in a Rodent Model of Anterior Ischemic Optic Neuropathy. ( 29521709 )
2018
24
Teaching NeuroImages: Leber hereditary optic neuropathy masquerading as neuromyelitis optica. ( 29284658 )
2018
25
Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation. ( 29554000 )
2018
26
Is Nonarteritic Ischemic Optic Neuropathy Due to Choroidal Compression of the Prelaminar Neurovascular Compartment of the Optic Nerve Head? ( 29438261 )
2018
27
Macular ganglion cell complex measurement in bilateral retrobulbar optic neuropathy without a relative afferent pupillary defect. ( 29970968 )
2018
28
Case of Bilateral Sequential Nonarteritic Ischemic Optic Neuropathy After Rechallenge With Sildenafil. ( 29215388 )
2018
29
Acute Effect of Hypervolemic Hemodilution on Retrobulbar Hemodynamics in Anterior Ischemic Optic Neuropathy. ( 29546060 )
2018
30
Central scotoma in tobacco-alcohol toxic optic neuropathy measured with semi-automated kinetic perimetry. ( 29688089 )
2018
31
Retrobulbar and intraocular blood flow in anterior ischaemic optic neuropathy are linked to the functional impairment. ( 29442245 )
2018
32
Neuroprotective and Anti-Inflammatory Effects of <i>Rhus coriaria</i> Extract in a Mouse Model of Ischemic Optic Neuropathy. ( 29690612 )
2018
33
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy. ( 29444077 )
2018
34
Haemodilution and head-down tilting induce functional injury in the rat optic nerve: A model for peri-operative ischemic optic neuropathy. ( 29771733 )
2018
35
The polymorphisms of ATOH 7, ET-1 and ACE in non-arteritic anterior ischemic optic neuropathy. ( 29792847 )
2018
36
Renal artery aneurysm associated with Leber hereditary optic neuropathy. ( 29725659 )
2018
37
Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T&amp;gt;C Point Mutation and Its Response to Idebenone Treatment. ( 29210930 )
2018
38
Pattern of peripapillary capillary density loss in ischemic optic neuropathy compared to that in primary open-angle glaucoma. ( 29320503 )
2018
39
Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G&amp;gt;A. ( 29562793 )
2018
40
Posterior Ischemic Optic Neuropathy After Blepharoplasty. ( 29384801 )
2018
41
Anomalous coagulation factors in non-arteritic anterior ischemic optic neuropathy with central retinal vein occlusion: A case report. ( 29642215 )
2018
42
Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy. ( 29384800 )
2018
43
The Association Between Phosphodiesterase Type 5 Inhibitor Use and Risk of Non-Arteritic Anterior Ischemic Optic Neuropathy: A Systematic Review and Meta-Analysis. ( 29884471 )
2018
44
Risk of Ischemic Kidney Injury in Patients With Nonarteritic Anterior Ischemic Optic Neuropathy: A Nationwide Population-based Study. ( 29330063 )
2018
45
Steroids versus No Steroids in Nonarteritic Anterior Ischemic Optic Neuropathy: A Randomized Controlled Trial. ( 29705054 )
2018
46
Optical Coherence Tomography Angiography of the Peripapillary Retina in Normal-Tension Glaucoma and Chronic Nonarteritic Anterior Ischemic Optic Neuropathy. ( 29451992 )
2018
47
The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient. ( 29479304 )
2018
48
Structural changes of macula and optic disk of the fellow eye in patients with nonarteritic anterior ischemic optic neuropathy. ( 29749568 )
2018
49
Three-Dimensional High-Resolution Black-Blood Magnetic Resonance Imaging for Detection of Arteritic Anterior Ischemic Optic Neuropathy in Patients With Giant Cell Arteritis. ( 30095558 )
2018
50
Giant Cell Arteritis Associated Arteritic Anterior Ischemic Optic Neuropathy: Sudden Vision Loss on the Contralateral Side of Headache. ( 30198237 )
2018
Sources

Variations for Optic Nerve Disease

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ClinVar genetic disease variations for Optic Nerve Disease:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
2 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh38 Chromosome 11, 89178218: 89178218
3 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh37 Chromosome MT, 3700: 3700
4 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh38 Chromosome MT, 3700: 3700
5 KARS NM_005548.2(KARS): c.599C> T (p.Pro200Leu) single nucleotide variant Likely pathogenic rs201650281 GRCh37 Chromosome 16, 75669880: 75669880
6 KARS NM_005548.2(KARS): c.599C> T (p.Pro200Leu) single nucleotide variant Likely pathogenic rs201650281 GRCh38 Chromosome 16, 75635982: 75635982
7 MT-ATP8 NC_012920.1: m.8418T> C single nucleotide variant Likely pathogenic rs1057516062 GRCh37 Chromosome MT, 8418: 8418
8 MT-ATP8 NC_012920.1: m.8418T> C single nucleotide variant Likely pathogenic rs1057516062 GRCh38 Chromosome MT, 8418: 8418
9 MT-ATP6 NC_012920.1: m.9166T> C single nucleotide variant Likely pathogenic rs1057516063 GRCh37 Chromosome MT, 9166: 9166
10 MT-ATP6 NC_012920.1: m.9166T> C single nucleotide variant Likely pathogenic rs1057516063 GRCh38 Chromosome MT, 9166: 9166
11 GLI2 NM_005270.4(GLI2): c.254G> C (p.Gly85Ala) single nucleotide variant Likely benign rs1057518803 GRCh37 Chromosome 2, 121685042: 121685042
12 GLI2 NM_005270.4(GLI2): c.254G> C (p.Gly85Ala) single nucleotide variant Likely benign rs1057518803 GRCh38 Chromosome 2, 120927466: 120927466
13 CHD2 NM_001271.3(CHD2): c.949A> G (p.Ile317Val) single nucleotide variant Likely benign rs750380444 GRCh37 Chromosome 15, 93486195: 93486195
14 CHD2 NM_001271.3(CHD2): c.949A> G (p.Ile317Val) single nucleotide variant Likely benign rs750380444 GRCh38 Chromosome 15, 92942965: 92942965
15 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh38 Chromosome 11, 89284940: 89284940
16 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh37 Chromosome 11, 89018108: 89018108
17 MT-ND4 NC_012920.1: m.11443A> C single nucleotide variant Uncertain significance GRCh37 Chromosome MT, 11443: 11443
18 MT-ND4 NC_012920.1: m.11443A> C single nucleotide variant Uncertain significance GRCh38 Chromosome MT, 11443: 11443
19 KARS NM_001130089.1(KARS): c.871T> G (p.Phe291Val) single nucleotide variant Pathogenic rs772410450 GRCh38 Chromosome 16, 75635688: 75635688
20 KARS NM_001130089.1(KARS): c.871T> G (p.Phe291Val) single nucleotide variant Pathogenic rs772410450 GRCh37 Chromosome 16, 75669586: 75669586
Sources

Expression for Optic Nerve Disease

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Search GEO for disease gene expression data for Optic Nerve Disease.
Sources

Pathways for Optic Nerve Disease

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Pathways related to Optic Nerve Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 4
11.75 MFN2 OPA1 TYR WFS1
2
GABAergic synapse 37
Show member pathways
 11.54 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
Sources

GO Terms for Optic Nerve Disease

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Cellular components related to Optic Nerve Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.96 DNM1L KARS MFN2 MT-ND1 MT-ND4 MT-ND5
2 mitochondrial inner membrane GO:0005743 9.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MYOC NDUFA1
3 mitochondrial outer membrane GO:0005741 9.67 DNM1L MFN2 MYOC OPA1
4 mitochondrial respiratory chain complex I GO:0005747 9.62 MT-ND1 MT-ND4 MT-ND5 NDUFA1
5 mitochondrial membrane GO:0031966 9.43 DNM1L MT-ND1 MT-ND4 MT-ND6 NDUFA1 OPA1
6 respiratory chain GO:0070469 9.02 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
7 membrane GO:0016020 10.28 AQP4 DNM1L KARS MFN2 MFRP MOG

Biological processes related to Optic Nerve Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1 TYR
2 positive regulation of cardiac muscle hypertrophy GO:0010613 9.55 EDN1 PDE5A
3 visual perception GO:0007601 9.55 MFRP OPA1 OPA3 TYR WFS1
4 positive regulation of dendritic spine morphogenesis GO:0061003 9.54 DNM1L OPA1
5 mitochondrial fission GO:0000266 9.52 DNM1L OPA1
6 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.51 OPA1 WFS1
7 response to nicotine GO:0035094 9.5 EDN1 MT-ND4 MT-ND6
8 mitochondrial fusion GO:0008053 9.49 MFN2 OPA1
9 intracellular distribution of mitochondria GO:0048312 9.48 DNM1L OPA1
10 ATP synthesis coupled electron transport GO:0042773 9.43 MT-ND4 MT-ND5
11 mitochondrion morphogenesis GO:0070584 9.43 DNM1L OPA1 OPA3
12 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.4 DNM1L OPA1
13 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization GO:0061734 9.37 MFN2 OPTN
14 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND1 MT-ND4 MT-ND5 NDUFA1
15 mitochondrial respiratory chain complex I assembly GO:0032981 9.02 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1

Molecular functions related to Optic Nerve Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.55 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TYR
2 NADH dehydrogenase activity GO:0003954 9.13 MT-ND1 MT-ND4 MT-ND5
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
Sources

Sources for Optic Nerve Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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