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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 38 30 56 6 15 74
Abnormality of the Optic Nerve 6
Disorder of the Second Nerve 12
Disorder of the Optic Nerve 74
Optic Nerve Disorders 44
Optic Nerve Disorder 12
Optic Nerve 77

Classifications:

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


External Ids:

Disease Ontology 12 DOID:1891
KEGG 38 H01719
MeSH 45 D009901
NCIt 51 C79698
SNOMED-CT 69 77157004
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Summaries for Optic Nerve Disease

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MedlinePlus : 44 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 GABAergic synapse and Glucose / Energy Metabolism. The drugs Dorzolamide and Timolol have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina, 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 : 77 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 900)
# Related Disease Score Top Affiliating Genes
1 leber hereditary optic neuropathy 34.4 MT-ND1 MT-ND4 MT-ND6 MYOC NDUFA1 OPA1
2 ischemic optic neuropathy 34.2 EDN1 MT-ND1 PDE5A
3 leber optic atrophy and dystonia 34.0 MT-ND1 MT-ND4 MT-ND6
4 leber optic atrophy 33.2 MT-ND1 MT-ND4 MT-ND6
5 optic atrophy 1 32.5 MFN2 OPA1
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.1 MT-ND1 MT-ND4 MT-ND6
7 spastic paraplegia 7, autosomal recessive 32.1 MFN2 MT-ND4 OPA1
8 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 32.1 OPA1 OPA3
9 glaucoma, normal tension 32.1 OPA1 OPTN
10 3-methylglutaconic aciduria, type iii 31.9 ANTXR1 BTD MFN2 MT-ND4 MT-ND6 OPA1
11 optic neuritis 31.9 AQP4 MBP MOG MT-ND4
12 acute retrobulbar neuritis 31.6 EDN1 MBP MT-ND4
13 neuritis 31.3 AQP4 MBP MOG
14 open-angle glaucoma 31.0 ELN MYOC OPTN
15 intracranial hypertension, idiopathic 31.0 AQP4 OPN4
16 allergic encephalomyelitis 30.9 MBP MOG
17 low tension glaucoma 30.8 EDN1 MYOC OPTN
18 glaucoma, primary open angle 30.8 ELN MYOC OPTN
19 neuromyelitis optica 30.7 AQP4 MBP MOG
20 ocular hypertension 30.7 MYOC OPN4 OPTN
21 myelitis 30.5 AQP4 MBP MOG
22 kearns-sayre syndrome 30.4 MT-ND1 MT-ND4 MT-ND6
23 mitochondrial metabolism disease 30.3 MT-ND4 MT-ND6 NDUFA1 OPA1
24 glaucoma 1, open angle, a 30.2 MYOC OPTN
25 nervous system disease 30.2 AQP4 MBP MOG OPTN
26 lactic acidosis 30.2 MT-ND1 MT-ND4 MT-ND6
27 scotoma 30.1 MT-ND4 OPA1
28 peripheral nervous system disease 30.1 AQP4 MBP MFN2 MOG MT-ND4 MT-ND6
29 neuropathy 30.1 MFN2 MT-ND1 MT-ND4 MT-ND6
30 acute disseminated encephalomyelitis 30.0 AQP4 MBP MOG
31 central nervous system disease 30.0 AQP4 MBP MOG
32 autoimmune optic neuritis 30.0 AQP4 MBP MOG
33 demyelinating disease 29.9 AQP4 MBP MOG
34 leigh syndrome 29.8 MT-ND1 MT-ND4 MT-ND6 NDUFA1
35 nonarteritic anterior ischemic optic neuropathy 12.8
36 coloboma of optic nerve 12.7
37 optic nerve glioma 12.6
38 short stature, optic nerve atrophy, and pelger-huet anomaly 12.5
39 arteritic anterior ischemic optic neuropathy 12.5
40 optic nerve neoplasm 12.4
41 chronic relapsing inflammatory optic neuropathy 12.4
42 optic nerve astrocytoma 12.3
43 optic nerve hypoplasia, familial bilateral 12.3
44 toxic optic neuropathy 12.3
45 papillorenal syndrome 12.3
46 childhood optic nerve glioma 12.3
47 nutritional optic neuropathy 12.3
48 bilateral meningioma of optic nerve 12.2
49 autoimmune-related retinopathy and optic neuropathy 12.2
50 myelinated optic nerve fibers 12.1

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



Diseases related to Optic Nerve Disease
Sources

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 AQP4 BTD MBP MFN2 MOG NDUFA1
2 growth/size/body region MP:0005378 10.1 ANTXR1 AQP4 BTD EDN1 MBP MFN2
3 homeostasis/metabolism MP:0005376 10.07 AQP4 BTD EDN1 MBP MFN2 MT-ND6
4 muscle MP:0005369 9.7 BTD EDN1 MFN2 MOG MT-ND6 OPA1
5 nervous system MP:0003631 9.7 AQP4 EDN1 MBP MFN2 MOG MT-ND6
6 vision/eye MP:0005391 9.32 AQP4 BTD MBP MOG MT-ND6 MYOC
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 367)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4,Phase 2,Not Applicable 120279-96-1 3154 5284549
2
Timolol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 26839-75-8 33624 5478
3
Mycophenolic acid Approved Phase 4 24280-93-1 446541
4
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 53-03-2 5865
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 hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2921-57-5
8
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83-43-2 6741
9
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-24-8 5755
10
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 302-25-0
11
Travoprost Approved Phase 4,Phase 3 157283-68-6 5282226
12
Brinzolamide Approved Phase 4,Phase 3 138890-62-7 68844
13
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
14
4-Aminopyridine Approved Phase 4,Phase 2,Phase 3 504-24-5 1727
15
Dopamine Approved Phase 4,Not Applicable 62-31-7, 51-61-6 681
16
Levodopa Approved Phase 4 59-92-7 6047
17
Carbidopa Approved Phase 4 28860-95-9 34359
18
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
19
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
20
Propranolol Approved, Investigational Phase 4 525-66-6 4946
21
Methimazole Approved Phase 4 60-56-0 1349907
22
Dronedarone Approved Phase 4 141626-36-0, 141625-93-6 154087
23
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
24
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
25
Ranibizumab Approved Phase 4,Phase 2,Phase 1 347396-82-1 459903
26
Interferon beta-1a Approved, Investigational Phase 4,Phase 3 145258-61-3 6438354
27
Interferon beta-1b Approved Phase 4,Phase 2,Phase 3 145155-23-3
28
Linezolid Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 165800-03-3 441401
29
Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
30
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
31
Isotretinoin Approved Phase 4 4759-48-2 5538 5282379
32
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
33
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
34
Minocycline Approved, Investigational Phase 4,Phase 2 10118-90-8 5281021
35
Ofloxacin Approved Phase 4 82419-36-1 4583
36
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
37
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
38
Azithromycin Approved Phase 4 83905-01-5 55185 447043
39
Clarithromycin Approved Phase 4 81103-11-9 84029
40
leucovorin Approved Phase 4 58-05-9 6006 143
41
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-30-3 6037
42
Choline Approved, Nutraceutical Phase 4,Not Applicable 62-49-7 305
43
SB-649868 Experimental, Investigational Phase 4,Phase 1 110-16-7, 110-17-8 444972
44
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2920-86-7
45 Adrenergic Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Carbonic Anhydrase Inhibitors Phase 4,Phase 2,Not Applicable
49 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 382)
# 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 Optical Coherence Tomography: Glatiramer in Clinically Isolated Syndrome or Early Relapsing Remitting Multiple Sclerosis (MS) Unknown status NCT00910598 Phase 4 glatiramer acetate
6 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)
7 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
8 A New Medicine to Treat Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT01975324 Phase 4 dalfampridine;Placebo
9 Effect of Levodopa-Carbidopa on Visual Function in Patients With Recent-Onset Nonarteritic Anterior Ischemic Optic Neuropathy Completed NCT00432393 Phase 4 levodopa-carbidopa
10 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4 Bevacizumab;Control
11 Brimonidine vs ALTP in Progressing Human Glaucoma Completed NCT00466479 Phase 4 brimonidine
12 Preoperative Brimonidine on IOP of Patients Undergoing RALP Completed NCT02818816 Phase 4 brimonidine tartrate 0.2%
13 Liver Function After Intravenous Methylprednisolone Administration Completed NCT03667157 Phase 4 every week IVMP therapy;very high doses IVMP therapy
14 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
15 Pharmacokinetics and Optimal Timing of Dronedarone Initiation Following Long-term Amiodarone in Patients With Paroxysmal or Persistent Atrial Fibrillation Completed NCT01199081 Phase 4 Dronedarone
16 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% fixed combination;Placebo;travoprost 0.004% ophthalmic solution
17 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%
18 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%
19 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
20 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
21 Pegaptanib for Retinal Edema Secondary to Diabetic Vascular Disease(Preserve) Study Completed NCT01486238 Phase 4 Macugen® pegaptanib sodium
22 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
23 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
24 Oral Corticotherapy in Megadoses to Treat Multiple Sclerosis During Relapse Completed NCT00753792 Phase 4 methylprednisolone;methylprednisolone;Placebo
25 A Study of Fluzone® High-Dose Vaccine Compared With Fluzone® Vaccine In Elderly Adults Completed NCT01427309 Phase 4
26 Follow-up Study After 11 Years of Patients Who Were Included in the BENEFIT Trial (304747) With a First Demyelinating Event Suggestive of Multiple Sclerosis Completed NCT01795872 Phase 4
27 Antiacne Medications Pseudotumor Cerebri Recruiting NCT02149615 Phase 4
28 A Trial of Neuroprotection With ACTH in Acute Optic Neuritis Recruiting NCT01838174 Phase 4 ACTHAR Gel (ACTH);IV methylprednisolone (steroids)
29 Linezolid for Treatment of Nontuberculous Mycobacterial Diseases Recruiting NCT03220074 Phase 4 Oral Tablet
30 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Active, not recruiting NCT02774005 Phase 4 Idebenone
31 Peripapillary Blood Flow After Use of Anti-glaucoma Medications: An OCT Angiography Study Active, not recruiting NCT03323164 Phase 4 Timolol Maleate;Brimonidine Tartrate
32 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
33 PDE5 Inhibitor Use and Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Terminated NCT00867815 Phase 4 Diagnostic procedures
34 Modeling and Treating the Pathophysiology of Demyelination in Multiple Sclerosis Terminated NCT00854750 Phase 4 ACTHAR;ACTHAR;ACTHAR;ACTHAR
35 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Withdrawn NCT02055911 Phase 4 Ranibizumab
36 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
37 A Proof-of-Concept Study to Correlate Retinal Nerve Fiber Layer Changes in Patients With Multiple Sclerosis Treated With Natalizumab or Interferon Beta 1-a Withdrawn NCT00771043 Phase 4 TYSABRI and AVONEX
38 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
39 Retrobulbar Triamcinolone Acetonide Injection in the Treatment of NA-AION Unknown status NCT02329288 Phase 3 Triamcinolone Acetonide;placebo
40 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
41 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
42 Effect of MD1003 in Chronic Visual Loss Related to Optic Neuritis in Multiple Sclerosis Unknown status NCT02220244 Phase 3 MD1003 100mg capsule
43 Simvastatin Treatment of Patients With Acute Optic Neuritis Unknown status NCT00261326 Phase 3 simvastatin;placebo
44 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
45 Optic Neuritis Treatment Trial (ONTT) Unknown status NCT00000146 Phase 3 Methylprednisolone;Prednisone
46 Ischemic Optic Neuropathy Decompression Trial (IONDT) Completed NCT00000127 Phase 3
47 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
48 Paraorbital-Occipital Electric Stimulation in Patients With Optic Neuropathy (BCT_optnerve) Completed NCT01282827 Phase 2, Phase 3
49 Optic Neuritis Recovery After Oral or IV Corticosteroids Completed NCT01524250 Phase 2, Phase 3 corticosteroids;corticosteroids
50 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

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 30
Sources

Anatomical Context for Optic Nerve Disease

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MalaCards organs/tissues related to Optic Nerve Disease:

42
Eye, Brain, Retina, Testes, Thyroid, Bone, Liver

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

20
The Optic Nerve
Sources

Publications for Optic Nerve Disease

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Articles related to Optic Nerve Disease:

(show top 50) (show all 3358)
# Title Authors Year
1
Re: Melgarejo et al.: Glaucomatous optic neuropathy associated with nocturnal dip in blood pressure: findings from Maracaibo Aging Study (Ophthalmology. 2018;125:807-814). ( 30683183 )
2019
2
Pachymeningitis with optic neuropathy associated with extrapulmonary tuberculosis and secondary antiphospholipid syndrome. ( 30685445 )
2019
3
Giant cell arteritis related arteritic anterior ischemic optic neuropathy: Clinico-pathological correlation. ( 30574925 )
2019
4
Characterization of retinal microvasculature in acute non-arteritic anterior ischemic optic neuropathy using the retinal functional imager: a prospective case series. ( 30675495 )
2019
5
Systemic oxidative stress in non-arteritic anterior ischemic optic neuropathy. ( 30833666 )
2019
6
Abnormal spontaneous brain activity in patients with non-arteritic anterior ischemic optic neuropathy detected using functional magnetic resonance imaging. ( 30855358 )
2019
7
The Difficulty of Diagnosing Invasive Aspergillosis Initially Manifesting as Optic Neuropathy. ( 30792652 )
2019
8
Orbital apex venous cavernous malformation with optic neuropathy: treatment with multisession gamma knife radiosurgery. ( 30612095 )
2019
9
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. ( 30891321 )
2019
10
Charles Bonnet syndrome in Leber's hereditary optic neuropathy. ( 30687896 )
2019
11
Previously Diagnosed Leber's Hereditary Optic Neuropathy with Clinical Signs of Idiopathic Intracranial Hypertension Responsive to Acetazolamide Therapy. ( 30820297 )
2019
12
Comment on: Optical coherence tomography angiography in acute unilateral nonarteritic anterior ischemic optic neuropathy: A comparison with the fellow eye and with eyes with papilledema. ( 30574942 )
2019
13
Response to comment on: Optical coherence tomography angiography in acute unilateral nonarteritic anterior ischemic optic neuropathy: A comparison with the fellow eye and with eyes with papilledema. ( 30574943 )
2019
14
Risk of Stroke after Nonarteritic Anterior Ischemic Optic Neuropathy. ( 30633893 )
2019
15
Early Macular Vessel Density Loss in Acute Ischemic Optic Neuropathy Compared to Papilledema: Implications for Pathogenesis. ( 30637176 )
2019
16
A comparative study on clinical features of anterior ischemic optic neuropathy and idiopathic optic neuritis. ( 30784250 )
2019
17
Ischemic Optic Neuropathy following Spine Surgery: Case Series and Systematic Review of the Literature. ( 30817727 )
2019
18
Optical Coherence Tomography Angiography of a Pale Optic Disc in Demyelinating Optic Neuritis and Ischemic Optic Neuropathy. ( 30893268 )
2019
19
Peripapillary microcirculation in Leber hereditary optic neuropathy. ( 30259673 )
2019
20
Repetitive brainstem lesions in mitochondrial DNA 11778G>A mutation of Leber hereditary optic neuropathy. ( 30705974 )
2019
21
Immune Response and Intraocular Inflammation in Patients With Leber Hereditary Optic Neuropathy Treated With Intravitreal Injection of Recombinant Adeno-Associated Virus 2 Carrying the ND4 Gene: A Secondary Analysis of a Phase 1/2 Clinical Trial. ( 30730541 )
2019
22
Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. ( 30829945 )
2019
23
What are the characteristics and progression of visual field defects in patients with Leber hereditary optic neuropathy: a prospective single-centre study in China. ( 30878986 )
2019
24
Acute Unilateral Vision Loss Due to Optic Neuropathy in a Patient with Systemic Lupus Erythematosus. ( 30670677 )
2019
25
Predictors of the therapeutic effect of corticosteroids on radiation-induced optic neuropathy following nasopharyngeal carcinoma. ( 30834973 )
2019
26
Yield of screening blood work and MRI of the brain and orbits in the work-up of unilateral chronic optic neuropathy. ( 30760894 )
2019
27
Radiation Optic Neuropathy After Whole-Brain Radiation Therapy. ( 30801441 )
2019
28
Facial Fracture Patterns Associated with Traumatic Optic Neuropathy. ( 30815214 )
2019
29
Functional changes of retinal ganglion cells and visual pathways in patients with Leber's hereditary optic neuropathy during one year of follow-up in chronic phase. ( 30822445 )
2019
30
Comment on "Acute Secondary Optic Neuropathy as a Complication of a Single Episode of Acutely Raised Intra Ocular pressure- a Case Series". ( 30839412 )
2019
31
Response to Comments on "Acute Secondary Optic Neuropathy as a Complication of a Single Episode of Acutely Raised Intra Ocular Pressure- a Case Series". ( 30839413 )
2019
32
Optic neuropathy associated with linezolid: systematic review of cases. ( 30848179 )
2019
33
Efficacy of N95 amplitude of pattern electroretinogram measured from baseline to N95 trough in the traumatic optic neuropathy. ( 30848395 )
2019
34
Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation. ( 30881859 )
2019
35
Late-onset Leber's hereditary optic neuropathy: the role of environmental factors in hereditary diseases. ( 30898963 )
2019
36
Correlation of peripapillary nerve fiber layer thickness with visual outcomes after decompression surgery in subclinical and clinical thyroid-related compressive optic neuropathy. ( 30899852 )
2019
37
Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo. ( 30899856 )
2019
38
Optic neuropathy caused by an Onodi cell. ( 30904284 )
2019
39
Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy. ( 30911824 )
2019
40
Navigation-assisted, endonasal, endoscopic optic nerve decompression for the treatment of nontraumatic optic neuropathy. ( 30600198 )
2019
41
Indirect traumatic optic neuropathy: modeling optic nerve injury in the context of closed head trauma. ( 30632497 )
2019
42
Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy. ( 30649972 )
2019
43
Effect of orbital decompression on dysthyroid optic neuropathy: A retrospective case series. ( 30653159 )
2019
44
A Time Bomb Defused, In Time! A Traumatic Optic Neuropathy To Be Wary Of. ( 30723522 )
2019
45
Treatment and Outcomes in Nutritional Optic Neuropathy. ( 30729321 )
2019
46
Leber's hereditary optic neuropathy: Shifting our attention to the macula. ( 30505979 )
2019
47
Comment on: A British Ophthalmic Surveillance Unit (BOSU) study into dysthyroid optic neuropathy in the United Kingdom. ( 30542064 )
2019
48
The effects of lycopene on alloxan induced diabetic optic neuropathy. ( 30277087 )
2019
49
Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival. ( 30304398 )
2019
50
Diagnostic value of ganglion cell-inner plexiform layer for early detection of ethambutol-induced optic neuropathy. ( 29699978 )
2019
Sources

Variations for Optic Nerve Disease

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ClinVar genetic disease variations for Optic Nerve Disease:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh37 Chromosome MT, 3700: 3700
2 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh38 Chromosome MT, 3700: 3700
3 KARS NM_005548.2(KARS): c.599C> T (p.Pro200Leu) single nucleotide variant Likely pathogenic rs201650281 GRCh37 Chromosome 16, 75669880: 75669880
4 KARS NM_005548.2(KARS): c.599C> T (p.Pro200Leu) single nucleotide variant Likely pathogenic rs201650281 GRCh38 Chromosome 16, 75635982: 75635982
5 MT-ATP8 NC_012920.1: m.8418T> C single nucleotide variant Likely pathogenic rs1057516062 GRCh37 Chromosome MT, 8418: 8418
6 MT-ATP8 NC_012920.1: m.8418T> C single nucleotide variant Likely pathogenic rs1057516062 GRCh38 Chromosome MT, 8418: 8418
7 MT-ATP6 NC_012920.1: m.9166T> C single nucleotide variant Likely pathogenic rs1057516063 GRCh37 Chromosome MT, 9166: 9166
8 MT-ATP6 NC_012920.1: m.9166T> C single nucleotide variant Likely pathogenic rs1057516063 GRCh38 Chromosome MT, 9166: 9166
9 GLI2 NM_005270.4(GLI2): c.254G> C (p.Gly85Ala) single nucleotide variant Likely benign rs1057518803 GRCh37 Chromosome 2, 121685042: 121685042
10 GLI2 NM_005270.4(GLI2): c.254G> C (p.Gly85Ala) single nucleotide variant Likely benign rs1057518803 GRCh38 Chromosome 2, 120927466: 120927466
11 CHD2 NM_001271.3(CHD2): c.949A> G (p.Ile317Val) single nucleotide variant Likely benign rs750380444 GRCh37 Chromosome 15, 93486195: 93486195
12 CHD2 NM_001271.3(CHD2): c.949A> G (p.Ile317Val) single nucleotide variant Likely benign rs750380444 GRCh38 Chromosome 15, 92942965: 92942965
13 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh38 Chromosome 11, 89284940: 89284940
14 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh37 Chromosome 11, 89018108: 89018108
15 MT-ND4 NC_012920.1: m.11443A> C single nucleotide variant Uncertain significance rs1556423952 GRCh37 Chromosome MT, 11443: 11443
16 MT-ND4 NC_012920.1: m.11443A> C single nucleotide variant Uncertain significance rs1556423952 GRCh38 Chromosome MT, 11443: 11443
17 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh38 Chromosome 11, 89178218: 89178218
18 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
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
GABAergic synapse 38
Show member pathways
 11.77 MT-ND1 MT-ND4 MT-ND6 NDUFA1
2
Glucose / Energy Metabolism 4
11.41 MFN2 OPA1 TYR WFS1
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 9.87 MFN2 MT-ND1 MT-ND4 MYOC NDUFA1 OPA1
2 mitochondrial inner membrane GO:0005743 9.63 MT-ND1 MT-ND4 MT-ND6 MYOC NDUFA1 OPA1
3 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND1 MT-ND4 NDUFA1
4 respiratory chain GO:0070469 9.26 MT-ND1 MT-ND4 MT-ND6 NDUFA1
5 mitochondrial membrane GO:0031966 9.02 MT-ND1 MT-ND4 MT-ND6 NDUFA1 OPA1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.89 MT-ND1 MT-ND4 MT-ND6 NDUFA1 TYR
2 central nervous system development GO:0007417 9.61 BTD MBP MOG
3 positive regulation of cardiac muscle hypertrophy GO:0010613 9.48 EDN1 PDE5A
4 mitochondrion morphogenesis GO:0070584 9.46 OPA1 OPA3
5 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.43 MT-ND1 MT-ND4 NDUFA1
6 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.4 OPA1 WFS1
7 mitochondrial fusion GO:0008053 9.37 MFN2 OPA1
8 visual perception GO:0007601 9.35 OPA1 OPA3 OPN4 TYR WFS1
9 response to nicotine GO:0035094 9.33 EDN1 MT-ND4 MT-ND6
10 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization GO:0061734 9.32 MFN2 OPTN
11 mitochondrial respiratory chain complex I assembly GO:0032981 8.92 MT-ND1 MT-ND4 MT-ND6 NDUFA1

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

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 8.96 MT-ND1 MT-ND4
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND1 MT-ND4 MT-ND6 NDUFA1
Sources

Sources for Optic Nerve Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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