MCID: OPT006
MIFTS: 59

Optic Nerve Disease

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Optic Nerve Disease

MalaCards integrated aliases for Optic Nerve Disease:

Name: Optic Nerve Disease 12 15
Optic Neuropathy 12 37 55 6 15 72
Abnormality of the Optic Nerve 6
Disorder of the Second Nerve 12
Disorder of the Optic Nerve 72
Optic Nerve Disorders 43
Optic Nerve Disorder 12
Optic Nerve 75

Classifications:



External Ids:

Disease Ontology 12 DOID:1891
KEGG 37 H01719
MeSH 44 D009901
NCIt 50 C79698
SNOMED-CT 68 77157004
ICD10 33 H47.0
UMLS 72 C0029132 C3887709

Summaries for Optic Nerve Disease

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 optic atrophy and dystonia and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, 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 Levodopa have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and thyroid, and related phenotypes are growth/size/body region and behavior/neurological

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

KEGG : 37
Optic neuropathy is damage to the optic nerve that causes vision loss frequently. The optic nerve is susceptible to a number of pathologic processes. Causes of the disease include demyelinating, inflammatory, toxic, nutritional, compressive, infiltrative, hereditary, traumatic, and neoplastic. The classic clinical signs of optic neuropathy are visual field defect, dyschromatopsia, and abnormal papillary response. A rapid onset is typical of demyelinating, inflammatory, ischemic, and traumatic causes.

Wikipedia : 75 The optic nerve, also known as cranial nerve II, or simply as CN II, is a paired cranial nerve that... more...

Related Diseases for Optic Nerve Disease

Diseases in the Optic Nerve Disease family:

Rare Optic Nerve Disorder

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

(show top 50) (show all 1518)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 34.7 MT-ND6 MT-ND4 MT-ND1
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 33.3 MT-ND6 MT-ND4 MT-ND1
3 spastic paraplegia 7, autosomal recessive 33.2 OPA1 MT-ND4 MFN2
4 optic atrophy 1 33.2 OPA1 MFN2
5 optic neuritis 33.1 MT-ND4 MOG MBP AQP4
6 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 32.8 OPA3 OPA1
7 glaucoma, primary open angle 31.8 OPTN MYOC ELN
8 kearns-sayre syndrome 31.7 MT-ND6 MT-ND4 MT-ND1
9 neuromyelitis optica 31.6 MOG MBP AQP4
10 neuritis 31.6 MOG MBP AQP4
11 mitochondrial metabolism disease 31.5 OPA1 NDUFA1 MT-ND6 MT-ND4
12 partial optic atrophy 31.4 OPTN MT-ND4
13 demyelinating disease 31.3 MOG MBP AQP4
14 glaucoma, normal tension 31.3 OPTN OPA1
15 myelitis 31.3 MOG MBP AQP4
16 lactic acidosis 31.3 MT-ND6 MT-ND4 MT-ND1
17 neuropathy 31.3 MT-ND6 MT-ND4 MT-ND1 MFN2
18 acute retrobulbar neuritis 31.1 MT-ND4 MBP EDN1
19 mitochondrial encephalomyopathy 31.1 NDUFA1 MT-ND6 MT-ND4 MT-ND1
20 nervous system disease 31.1 OPTN MOG MBP AQP4
21 mitochondrial myopathy 31.0 MT-ND6 MT-ND4 MT-ND1
22 leigh syndrome 30.9 NDUFA1 MT-ND6 MT-ND4 MT-ND1
23 allergic encephalomyelitis 30.9 MOG MBP
24 scotoma 30.9 OPA1 MT-ND4
25 leber optic atrophy 30.9 MT-ND6 MT-ND4 MT-ND1
26 relapsing-remitting multiple sclerosis 30.9 MOG MBP AQP4
27 central nervous system disease 30.8 MOG MBP AQP4
28 acute disseminated encephalomyelitis 30.8 MOG MBP AQP4
29 glaucoma 1, open angle, a 30.7 OPTN MYOC
30 juvenile glaucoma 30.6 OPTN MYOC ELN
31 3-methylglutaconic aciduria, type iii 30.5 WFS1 OPA3 OPA1 MT-ND6 MT-ND4 MFN2
32 open-angle glaucoma 30.5 OPTN MYOC ELN
33 exposure keratitis 30.5 NDUFA1 MT-ND4
34 autoimmune optic neuritis 30.5 MOG MBP AQP4
35 raynaud phenomenon 30.2 PDE5A EDN1
36 peripheral nervous system disease 29.9 WFS1 MT-ND6 MT-ND4 MOG MFN2 MBP
37 coloboma of optic nerve 12.8
38 short stature, optic nerve atrophy, and pelger-huet anomaly 12.7
39 arteritic anterior ischemic optic neuropathy 12.6
40 optic nerve neoplasm 12.5
41 chronic relapsing inflammatory optic neuropathy 12.5
42 bilateral meningioma of optic nerve 12.5
43 optic nerve astrocytoma 12.5
44 optic nerve hypoplasia, familial bilateral 12.5
45 papillorenal syndrome 12.5
46 toxic optic neuropathy 12.4
47 childhood optic nerve glioma 12.4
48 nutritional optic neuropathy 12.4
49 myelinated optic nerve fibers 12.4
50 rare optic nerve disorder 12.3

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



Diseases related to Optic Nerve Disease

Symptoms & Phenotypes for Optic Nerve Disease

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 growth/size/body region MP:0005378 10.1 ANTXR1 AQP4 BTD EDN1 MBP MFN2
2 behavior/neurological MP:0005386 10.07 AQP4 BTD MBP MFN2 MOG NDUFA1
3 homeostasis/metabolism MP:0005376 10.03 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 9.65 AQP4 EDN1 MBP MFN2 MOG MT-ND6
6 vision/eye MP:0005391 9.28 AQP4 BTD MBP MOG MT-ND6 MYOC

Drugs & Therapeutics for Optic Nerve Disease

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

(show top 50) (show all 407)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
2
Levodopa Approved Phase 4 59-92-7 6047
3
Carbidopa Approved Phase 4 28860-95-9 34359
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
6
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
7
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
8
Propranolol Approved, Investigational Phase 4 525-66-6 4946
9
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
10
Methimazole Approved Phase 4 60-56-0 1349907
11
Povidone Approved Phase 4 9003-39-8
12
Iodine Approved, Investigational Phase 4 7553-56-2 807
13
Povidone-iodine Approved Phase 4 25655-41-8
14
Clonidine Approved Phase 4 4205-90-7 2803
15
Apraclonidine Approved Phase 4 66711-21-5 2216
16
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
17
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
18
Azathioprine Approved Phase 4 446-86-6 2265
19
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
20
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
21
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
22
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
23
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
24
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
25
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
26
leucovorin Approved Phase 4 58-05-9 143 6006
27
rituximab Approved Phase 4 174722-31-7 10201696
28
Idebenone Approved, Investigational Phase 4 58186-27-9
29
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
30
Phenylephrine Approved Phase 4 59-42-7 6041
31
Ephedrine Approved Phase 4 299-42-3 9294
32
Pseudoephedrine Approved Phase 4 90-82-4 7028
33
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
34
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
35
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
36
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
37
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
38
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
39
Choline Approved, Nutraceutical Phase 4 62-49-7 305
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
41
Adefovir Investigational Phase 4 106941-25-7
42
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
43 Cloprostenol Vet_approved Phase 4 54276-21-0
44
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
45 (T,G)-A-L Phase 4
46
Glatiramer Acetate Phase 4 147245-92-9 3081884
47 Nootropic Agents Phase 4
48 Cytidine Diphosphate Choline Phase 4
49 Analgesics Phase 4
50 Analgesics, Non-Narcotic Phase 4

Interventional clinical trials:

(show top 50) (show all 688)
# Name Status NCT ID Phase Drugs
1 EFFECTS OF IMMEDIATE ARGON LASER PERIPHERAL IRIDOPLASTY Versus CONVENTIONAL SYSTEMIC MEDICAL THERAPY ON OPTIC NERVE HEAD STRUCTURE AND FUNCTION OF ACUTE PRIMARY ANGLE CLOSURE EYES Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
2 Evaluation of Safety and Efficacy of Glaucoma Shunt (Aurolab Artificial Drainage Implant) in Refractory Glaucoma Unknown status NCT01401088 Phase 4
3 A Pilot Study on the Effects of Cosopt on IOP Lowering and Ocular Diastolic Perfusion Pressure in Patients Not Controlled With Xalatan Monotherapy Unknown status NCT00796198 Phase 4 Xalatan+Cosopt;Xalatan
4 A Prospective, Randomized, Controlled Study to Assess Efficacy,Safety, and Tolerability of Selective Laser Trabeculoplasty vs. Pattern Laser Trabeculoplasty in Patients With Open-angle Glaucoma Unknown status NCT02231515 Phase 4
5 A Multicenter Longitudinal Cross-sectional Pilot Study, to Compare RNFL Thickness Measured by OCT After Treatment With Glatiramer or After no Treatment in Patients With CIS With or Without Optic Neuritis or With Early RRMS Unknown status NCT00910598 Phase 4 glatiramer acetate
6 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
7 An Open Label-study to Compare the Efficacy of Aflibercept Monotherapy for Polypoidal Choroidal Vasculopathy Using a Modified Intensive Treat and Extend Regime to a Fixed Dosing Regimen Unknown status NCT03117634 Phase 4 Treat and Extend with Aflibercept 2mg;Fixed Dosing with Aflibercept 2mg
8 Phase 4 Study of Evaluation of Neural Conduction Along the Visual Pathways Before and After Oral Treatment With Citicoline in Patients With Optic Nerve Diseases Completed NCT00404729 Phase 4 Cytidine-5’-diphosphocholine (Citicoline)
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 Dalfampridine Treatment for Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT01975324 Phase 4 dalfampridine;Placebo
11 Use of Bevacizumab in Trabeculectomy Surgery. A Prospective, 2 Centre, Randomized, Controlled Trial Completed NCT01166594 Phase 4 Bevacizumab;Control
12 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) : Pattern Electroretinography Study Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
13 A Prospective Study to Evaluate the Effect of Preoperative Topical Brimonidine Tartrate 0.2% (Allergan, Irvine, CA) on Intraocular Pressure (IOP) of Patients Undergoing Robot-assisted Laparoscopic Prostatectomy (RALP) Completed NCT02818816 Phase 4 brimonidine tartrate 0.2%
14 Health-Related Quality of Life in Two Pathways for Newly Diagnosed Open Angle Glaucoma and Ocular Hypertension: an Unmasked, Multi-centre, Randomised Controlled Trial of Initial Selective Laser Trabeculoplasty Versus Medical Therapy Completed NCT03395535 Phase 4 Primary Medical Treatment Pathway
15 SWITCH OR ADD PEGYLATED-INTERFERON IN CHRONIC HEPATITIS B PATIENTS ON LONG TERM NUCLEOS(T)IDE THERAPY (SWAP TRIAL) Completed NCT01928511 Phase 4 peg-interferon alpha 2b, 1.5mcg/kg s/c given weekly;Nucleos(t)ide analogue therapy
16 Influence of Methylprednisolone Pulse Therapy on Liver Function in Patients With Graves' Orbitopathy Completed NCT03667157 Phase 4 every week IVMP therapy;very high doses IVMP therapy
17 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
18 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
19 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
20 The Effect of Intravitreal Aflibercept on Ocular Perfusion - a Pilot Study Completed NCT03804099 Phase 4 Aflibercept Injection [Eylea]
21 Topical Brimonidine vs Argon Laser Trabeculoplasty in Progressing Human Glaucoma. A Prospective Randomized Clinical Trial. Completed NCT00466479 Phase 4 brimonidine
22 Change in Optic Nerve Head Blood Flow,Optic Nerve Topography and Diurnal Fluctuation of Intraocular Pressure and Pulsatile Ocular Blood Flow in Glaucoma:Cosopt and Xalatan vs Xalatan Alone Completed NCT00957190 Phase 4 Dorzolamide 20 mg and Timolol 5 mg
23 Effects of Topical Clonidine vs. Brimonidine on Choroidal Blood Flow and Intraocular Pressure During Isometric Exercise Completed NCT00312416 Phase 4 Clonidin;Brimonidine
24 Choroidal Thickness and Its Correlations With Ocular Parameters in Cases With Primary Open-angle Glaucoma Completed NCT03966560 Phase 4 Brimonidine Tartrate;Dorzolamide (as Dorzolamide Hydrochloride) 20 Mg/mL and Timolol (as Timolol Maleate) 5 Mg/mL Eye Drops;Brinzolamide/Timolol 10 MG/1 ML-5 MG/1 ML Ophthalmic Suspension;Travoprost and Timolol;Bimatoprost and Timolol;Latanoprost
25 Effects of Intravenous Clonidine on Ocular Blood Flow and Intraocular Pressure Completed NCT00279253 Phase 4 clonidine (drug) intravenously
26 Phase IV Study of Micropulse Laser Trabeculoplasty Versus Selective Laser Trabeculoplasty for Treatment of Open Angle Glaucoma Completed NCT01956942 Phase 4
27 PRELIMINARY EVALUATION OF RETINAL EFFECTS OF PHARMACOLOLOGICAL LOWERING OF SERUM LEVES OF ADVANCED GLYCATION END-PRODUCTS (AGEs) IN TYPE 2 DIABETIC PATIENTS Completed NCT02249897 Phase 4 CHOLESTYRAMINE
28 Comparison of Dexmedetomidine vs. Propofol in Vitreoretinal Surgery Under Sub-Tenon's Block Completed NCT01001429 Phase 4 Dexmedetomidine infusion;propofol
29 The Effect of Inhaled Corticosteroids on Intraocular Pressure in Patients With Ocular Hypertension or Controlled Glaucoma. Completed NCT02338362 Phase 4 Fluticasone propionate inhaler;Saline placebo inhaler
30 Influence of Travoprost 0.004% and Latanoprost 0.005% on Retinal Vascular Diameter and Choroidal Blood Flow in Glaucoma Patients Completed NCT00308945 Phase 4 travoprost 0.004% (drug);latanoprost 0.005% (drug)
31 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
32 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
33 Efficacy and Safety of Low Dose Atracurium Added to Lidocaine, Bupivacaine and Hyaluronidase Mixture in Percaruncular Peribulbar Anesthesia for High Myopes Undergoing Phacoemulsification: A Randomized Controlled Trial. Completed NCT03243500 Phase 4 Atracurium;Lidocaine 2%;Bupivacaine 0.5%;hyaluronidase powder
34 A Phase IV Trial of Neuroprotection With ACTH in Acute Optic Neuritis Recruiting NCT01838174 Phase 4 ACTHAR Gel (ACTH);IV methylprednisolone (steroids)
35 Steroids and/ or Non-steroidal Anti-inflammatory Drugs in the Postoperative Regime After Trabeculectomy. An Investigator-initiated Randomized Study (The SNAP Study) Recruiting NCT04054830 Phase 4 Voltaren Ophtha 1 mg/ml, GSK;Monopex 1 mg/ml, Théa
36 Phase IV Study of Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Recruiting NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
37 A Prospective Randomized Clinical Trial Comparing Three Delivery Methods of Mitomycin-C for Trabeculectomy Surgery: Preoperative Subconjunctival Injection, Intraoperative Subconjunctival Injection, and Topical Application (Conventional Use) During Trabeculectomy Surgery Recruiting NCT03875911 Phase 4 Mitomycin C
38 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
39 External Natural History Controlled, Open-Label Intervention Study to Assess the Efficacy and Safety of Long-Term Treatment With Raxone® in Leber's Hereditary Optic Neuropathy (LHON) Active, not recruiting NCT02774005 Phase 4 Idebenone
40 Changes in Peripapillary Blood Flow After Use of Anti-glaucoma Medications: A Prospective, Quantitative OCT Angiography Study Active, not recruiting NCT03323164 Phase 4 Timolol Maleate;Brimonidine Tartrate
41 The Effect of Brimonidine on Intraocular Pressure When Dilating Routine Patients, Pressure Control and Pupil Effects Active, not recruiting NCT03959176 Phase 4 Brimonidine;Tropicamide;Phenylephrine Ophthalmic Product
42 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
43 Effect of Nailfold Application of Latanoprostene Bunod on Nailfold Capillary Blood Flow Not yet recruiting NCT03949244 Phase 4 Latanoprost 0.005%;Latanoprost bunod 0.024%;Normal saline 0.9%
44 The Effect of Lumify™ (Brimonidine Tartrate Ophthalmic Solution 0.025%) on Ocular Redness, Intraocular Pressure, and Eyelid Position in Glaucoma Patients Using Brimonidine 0.2%, 0.15%, or 0.1% Not yet recruiting NCT04007276 Phase 4 brimonidine tartrate ophthalmic solution 0.025%
45 Prospective Case Crossover Study to Assess Whether PDE5 Inhibitor Exposure in Men Increases the Risk for the Development of Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Terminated NCT00867815 Phase 4 Diagnostic procedures
46 Modeling and Treating the Pathophysiology of Demyelination in Multiple Sclerosis Terminated NCT00854750 Phase 4 ACTHAR;ACTHAR;ACTHAR;ACTHAR
47 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
48 Retrobulbar Triamcinolone Acetonide Injection in the Treatment of Nonarteritic Anterior Ischemic Optic Neuropathy Unknown status NCT02329288 Phase 3 Triamcinolone Acetonide;placebo
49 The Effect of High Dose Steroid and Normobaric Oxygen Therapy on Recent Onset Non-arteritic Anterior Ischemic Optic Neuropathy(NAION); a Randomized Clinical Trial Unknown status NCT02439866 Phase 3 placebo;Intravenous methylprednisolone;normobaric oxygen with face mask
50 Optic Neuritis Treatment Trial (ONTT) Unknown status NCT00000146 Phase 3 Methylprednisolone;Prednisone

Search NIH Clinical Center for Optic Nerve Disease

Genetic Tests for Optic Nerve Disease

Anatomical Context for Optic Nerve Disease

MalaCards organs/tissues related to Optic Nerve Disease:

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

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

19
Optic Nerve

Publications for Optic Nerve Disease

Articles related to Optic Nerve Disease:

(show top 50) (show all 8708)
# Title Authors PMID Year
1
Neuroanatomy, Bitemporal Hemianopsia 17
31424797 2019
2
Pituitary abscess following endoscopic endonasal drainage of a suprasellar arachnoid cyst: Case report and review of the literature. 17
31402262 2019
3
Pheochromocytoma, paragangliomas, and pituitary adenoma: An unusual association in a patient with an SDHD mutation. Case report. 17
31348302 2019
4
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. 9 38
20157369 2010
5
Nonarteritic ischaemic optic neuropathy (NAION) after 36 h of intake of sildenafil citrate: first Egyptian case. 9 38
19737280 2009
6
Phosphodiesterase inhibitors and the eye. 9 38
19624350 2009
7
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 9 38
19325939 2009
8
Nonarteritic anterior ischemic optic neuropathy with PDE-5 inhibitors for erectile dysfunction. 9 38
18528398 2008
9
Role of the ETB receptor in retinal ganglion cell death in glaucoma. 9 38
18516102 2008
10
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 9 38
18158317 2008
11
Current safety and tolerability issues in men with erectile dysfunction receiving PDE5 inhibitors. 9 38
17655683 2007
12
Endothelin-1, endothelin A and B receptor expression and their pharmacological properties in GFAP negative human lamina cribrosa cells. 9 38
17433294 2007
13
The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. 9 38
17197509 2007
14
Mitochondrial abnormalities in patients with LHON-like optic neuropathies. 9 38
17003408 2006
15
Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. 9 38
16569640 2006
16
Long-term activation of c-Fos and c-Jun in optic nerve head astrocytes in experimental ocular hypertension in monkeys and after exposure to elevated pressure in vitro. 9 38
16081055 2005
17
Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. 9 38
15728653 2005
18
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. 9 38
15781809 2005
19
Chronic ischemia induces regional axonal damage in experimental primate optic neuropathy. 9 38
15477464 2004
20
[Optic neuropathy in biotinidase deficiency]. 9 38
15306966 2004
21
[Study on the optic neuropathy induced response protein gene mutation in Chinese patients with primary open-angle glaucoma]. 9 38
15312511 2004
22
Optineurin in primary open angle glaucoma. 9 38
14740994 2003
23
Suppression of complex I gene expression induces optic neuropathy. 9 38
12557286 2003
24
Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. 9 38
12379221 2002
25
Mutation spectrum and splicing variants in the OPA1 gene. 9 38
11810270 2001
26
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 9 38
11133798 2001
27
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 9 38
11017079 2000
28
Physiology of perfusion as it relates to the optic nerve head. 9 38
10416744 1999
29
Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. 9 38
9878213 1998
30
Association study of the 5' flanking regions of endothelial-nitric oxide synthase and endothelin-1 genes in familial primary open-angle glaucoma. 9 38
9493554 1998
31
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 9 38
9433860 1997
32
The preventive effect of aldose reductase inhibition on diabetic optic neuropathy in the BB/W-rat. 9 38
8243866 1993
33
[Juvenile optic neuropathy caused by Km variants of biotinidase]. 9 38
1315891 1992
34
A biotinidase Km variant causing late onset bilateral optic neuropathy. 9 38
1739323 1992
35
Normal tension glaucoma: from the brain to the eye or the inverse? 38
31290433 2019
36
A comparative study on clinical features of anterior ischemic optic neuropathy and idiopathic optic neuritis. 38
30784250 2019
37
Obstructive Sleep Apnea in Neuro-Ophthalmology. 38
30300256 2019
38
Optical Coherence Tomography Angiography of a Pale Optic Disc in Demyelinating Optic Neuritis and Ischemic Optic Neuropathy. 38
30893268 2019
39
Ischemic Optic Neuropathy Secondary to Intravascular Lymphoma. 38
30531633 2019
40
Aquaporin-4 and myelin oligodendrocyte glycoprotein antibodies in immune-mediated optic neuritis at long-term follow-up. 38
31118222 2019
41
Radiation Optic Neuropathy After Whole-Brain Radiation Therapy. 38
30801441 2019
42
Rapamycin Removes Damaged Mitochondria and Protects Human Trabecular Meshwork (TM-1) Cells from Chronic Oxidative Stress. 38
30903531 2019
43
Pediatric nodular fasciitis at the roof of the optic canal causing decreased vision: case report and review of the literature. 38
30706133 2019
44
Randomized Controlled Phase 2a Study of RPh201 in Previous Nonarteritic Anterior Ischemic Optic Neuropathy. 38
31430268 2019
45
Neurological manifestations related to Crohn's disease: a boon for the workforce. 38
31413837 2019
46
Therapeutic Effects of Puerarin Against Anterior Ischemic Optic Neuropathy Through Antiapoptotic and Anti-Inflammatory Actions. 38
31408114 2019
47
Ischemic Optic Neuropathy Following Spine Surgery: Case Control Analysis and Systematic Review of the Literature. 38
30817727 2019
48
Deciphering exome sequencing data: bringing mitochondrial DNA variants to light. 38
31379041 2019
49
The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy. 38
31397049 2019
50
Mitochondria and autophagy dysfunction in glucocorticoid-induced ocular hypertension/glaucoma mice model. 38
31425668 2019

Variations for Optic Nerve Disease

ClinVar genetic disease variations for Optic Nerve Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 11:88911386-88911386 11:89178218-89178218
2 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 MT:3700-3700 MT:3700-3700
3 KARS1 NM_001130089.1(KARS1): c.871T> G (p.Phe291Val) single nucleotide variant Pathogenic 16:75669586-75669586 16:75635688-75635688
4 KARS1 NM_001130089.1(KARS1): c.683C> T (p.Pro228Leu) single nucleotide variant Likely pathogenic rs201650281 16:75669880-75669880 16:75635982-75635982
5 TYR NM_000372.5(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 11:89018108-89018108 11:89284940-89284940
6 MT-ATP8 NC_012920.1: m.8418T> C single nucleotide variant Likely pathogenic rs1057516062 MT:8418-8418 MT:8418-8418
7 MT-ATP6 NC_012920.1: m.9166T> C single nucleotide variant Likely pathogenic rs1057516063 MT:9166-9166 MT:9166-9166
8 MT-ND4 NC_012920.1: m.11443A> C single nucleotide variant Uncertain significance rs1556423952 MT:11443-11443 MT:11443-11443
9 GLI2 NM_005270.4(GLI2): c.254G> C (p.Gly85Ala) single nucleotide variant Likely benign rs1057518803 2:121685042-121685042 2:120927466-120927466
10 CHD2 NM_001271.4(CHD2): c.949A> G (p.Ile317Val) single nucleotide variant Likely benign rs750380444 15:93486195-93486195 15:92942965-92942965

Expression for Optic Nerve Disease

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

Pathways for Optic Nerve Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.77 NDUFA1 MT-ND6 MT-ND4 MT-ND1
2 11.41 WFS1 TYR OPA1 MFN2

GO Terms for Optic Nerve Disease

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 OPA3 OPA1 NDUFA1 MYOC MT-ND4 MT-ND1
2 mitochondrial inner membrane GO:0005743 9.63 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
3 mitochondrial respiratory chain complex I GO:0005747 9.43 NDUFA1 MT-ND4 MT-ND1
4 respiratory chain GO:0070469 9.26 NDUFA1 MT-ND6 MT-ND4 MT-ND1
5 mitochondrial membrane GO:0031966 9.02 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1

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 TYR NDUFA1 MT-ND6 MT-ND4 MT-ND1
2 visual perception GO:0007601 9.62 WFS1 TYR OPA3 OPA1
3 central nervous system development GO:0007417 9.61 MOG MBP BTD
4 positive regulation of cardiac muscle hypertrophy GO:0010613 9.48 PDE5A EDN1
5 mitochondrion morphogenesis GO:0070584 9.46 OPA3 OPA1
6 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.4 WFS1 OPA1
7 mitochondrial fusion GO:0008053 9.37 OPA1 MFN2
8 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.33 NDUFA1 MT-ND4 MT-ND1
9 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization GO:0061734 9.26 OPTN MFN2
10 response to nicotine GO:0035094 9.13 MT-ND6 MT-ND4 EDN1
11 mitochondrial respiratory chain complex I assembly GO:0032981 8.92 NDUFA1 MT-ND6 MT-ND4 MT-ND1

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-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 NDUFA1 MT-ND6 MT-ND4 MT-ND1

Sources for Optic Nerve Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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