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MCID: OPT006
MIFTS: 60

Optic Nerve Disease

Categories: Eye diseases, Neuronal diseases, Rare 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 36 54 6 15 71
Abnormality of the Optic Nerve 6
Disorder of the Second Nerve 12
Disorder of the Optic Nerve 71
Optic Nerve Disorders 42
Optic Nerve Disorder 12
Neuropathy, Optic 39
Optic Nerve 74

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:1891
KEGG 36 H01719
MeSH 43 D009901
NCIt 49 C79698
SNOMED-CT 67 77157004
ICD10 32 H47.0
UMLS 71 C0029132 C3887709
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Summaries for Optic Nerve Disease

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MedlinePlus : 42 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 toxic optic neuropathy and leber optic atrophy and dystonia, 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 Parkinson disease and GABAergic synapse. The drugs Dorzolamide and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include optic nerve, eye and thyroid, 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.

KEGG : 36 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 : 74 The optic nerve, also known as cranial nerve II, or simply as CN II, is a paired cranial nerve that... more...

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Related Diseases for Optic Nerve Disease

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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 1545)
# Related Disease Score Top Affiliating Genes
1 toxic optic neuropathy 35.0 MT-ND6 MT-ND4 AQP4
2 leber optic atrophy and dystonia 34.8 MT-ND6 MT-ND4 MT-ND1
3 glaucoma-related pigment dispersion syndrome 33.5 OPTN MYOC
4 optic atrophy 1 33.5 OPA1 MFN2 MFN1 DNM1L
5 primary congenital glaucoma 33.5 OPTN MYOC CRYAA
6 3-methylglutaconic aciduria, type iii 33.4 OPA1 MT-ND6 MT-ND4 MT-ND1 MFN2 MFN1
7 mitochondrial complex i deficiency, nuclear type 1 33.4 NDUFA1 MT-ND6 MT-ND4 MT-ND1 DNM1L
8 optic neuritis 33.4 MT-ND6 MT-ND4 MOG EDN1 AQP4
9 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 33.4 NDUFA1 MT-ND6 MT-ND4 MT-ND1
10 glaucoma 1, open angle, a 33.3 OPTN MYOC
11 optic atrophy 5 32.8 OPA1 MT-ND6 MT-ND4 DNM1L
12 optic nerve hypoplasia, bilateral 32.8 MYOC MT-ND4 EDN1
13 phacogenic glaucoma 32.8 OPTN MYOC ELN CRYAA
14 steroid-induced glaucoma 32.8 OPTN MYOC CRYAA
15 glaucoma, primary open angle 32.1 OPTN MYOC ELN EDN1 CRYAA
16 mitochondrial disorders 32.0 OPA1 NDUFA1 MT-ND6 MT-ND1
17 branch retinal artery occlusion 31.9 CRYAA AQP4
18 kearns-sayre syndrome 31.8 MT-ND6 MT-ND4 MT-ND1 MFN2
19 mitochondrial metabolism disease 31.8 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MFN2
20 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 31.8 OPA1 MFN2 DNM1L
21 dystonia 31.8 MT-ND6 MT-ND4 MT-ND1 DNM1L BTD
22 neuritis 31.8 MT-ND4 MOG AQP4
23 leigh syndrome 31.6 NDUFA1 MT-ND6 MT-ND4 MT-ND1 DNM1L
24 optic atrophy 3, autosomal dominant 31.5 MFN2 MFN1 CRYAA
25 glaucoma, normal tension 31.5 OPTN OPA1 MYOC EDN1 CRYAA
26 lactic acidosis 31.4 MT-ND6 MT-ND4 MT-ND1 KARS1 DNM1L
27 mitochondrial encephalomyopathy 31.4 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1
28 ptosis 31.4 OPA1 MT-ND4 MT-ND1 CRYAA
29 hereditary optic neuropathy 31.4 MT-ND6 MT-ND4 MT-ND1
30 charcot-marie-tooth disease 31.4 OPA1 MFN2 MFN1 KARS1 DNM1L CRYAA
31 neuropathy 31.2 OPA1 MT-ND6 MT-ND4 MT-ND1 MFN2
32 chronic progressive external ophthalmoplegia 31.2 MT-ND6 MT-ND4 MT-ND1
33 acute retrobulbar neuritis 31.2 MT-ND4 AQP4
34 mitochondrial myopathy 31.2 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MFN2 DNM1L
35 optic atrophy 4 31.2 OPA1 MT-ND6 MT-ND4
36 neurosarcoidosis 31.2 MOG AQP4
37 retinitis pigmentosa 31.1 TYR OPA1 MYOC MT-ND4 MT-ND1 FOXG1
38 ocular hypertension 31.1 OPTN MYOC CRYAA
39 cortical blindness 31.1 MT-ND6 MT-ND4 MT-ND1
40 intraocular pressure quantitative trait locus 31.1 TYR OPTN OPA1 MYOC ELN EDN1
41 scotoma 31.1 OPA1 MT-ND6 MT-ND4 DNM1L AQP4
42 optic papillitis 31.0 MOG AQP4
43 nonarteritic anterior ischemic optic neuropathy 31.0 PDE5A MT-ND4 EDN1
44 raynaud phenomenon 31.0 PDE5A EDN1
45 acute closed-angle glaucoma 31.0 OPTN MYOC
46 leber optic atrophy 30.9 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
47 open-angle glaucoma 30.9 OPTN OPA1 MYOC MT-ND4 ELN EDN1
48 peripheral nervous system disease 30.9 OPTN OPA1 MYOC MT-ND6 MT-ND4 MT-ND1
49 eye disease 30.8 TYR OPTN MYOC MT-ND4 CRYAA
50 fundus dystrophy 30.8 TYR OPA1 MYOC MT-ND4 ELN CRYAA

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 AQP4 BTD DNM1L FOXG1 KARS1 MFN1
2 growth/size/body region MP:0005378 10.03 AQP4 BTD DNM1L EDN1 FOXG1 KARS1
3 muscle MP:0005369 9.76 BTD DNM1L EDN1 FOXG1 MFN2 MOG
4 nervous system MP:0003631 9.7 AQP4 DNM1L EDN1 FOXG1 MFN1 MFN2
5 vision/eye MP:0005391 9.28 AQP4 BTD DNM1L FOXG1 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 357)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
2
Levodopa Approved Phase 4 59-92-7 6047
3
Carbidopa Approved Phase 4 28860-95-9 34359
4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
6
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Phenylephrine Approved Phase 4 59-42-7 6041
9
Pseudoephedrine Approved Phase 4 90-82-4 7028
10
Ephedrine Approved Phase 4 299-42-3 9294
11
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
12
Methimazole Approved Phase 4 60-56-0 1349907
13
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
14
Propranolol Approved, Investigational Phase 4 525-66-6 4946
15
Iodine Approved, Investigational Phase 4 7553-56-2 807
16
Povidone Approved Phase 4 9003-39-8
17
Povidone-iodine Approved Phase 4 25655-41-8
18
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
19
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
20
Clonidine Approved Phase 4 4205-90-7 2803
21
Apraclonidine Approved Phase 4 66711-21-5 2216
22
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
23
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
24
Azathioprine Approved Phase 4 446-86-6 2265
25
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
26
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
27
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
28
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
29
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
30
leucovorin Approved Phase 4 58-05-9 6006 143
31
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
32
rituximab Approved Phase 4 174722-31-7 10201696
33
Bevacizumab Approved, Investigational Phase 4 216974-75-3
34
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
35
Choline Approved, Nutraceutical Phase 4 62-49-7 305
36
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
37
Adefovir Investigational Phase 4 106941-25-7
38
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
39 (T,G)-A-L Phase 4
40
Glatiramer Acetate Phase 4 147245-92-9 3081884
41 Anti-Inflammatory Agents Phase 4
42 Anti-Infective Agents Phase 4
43 Dopamine agonists Phase 4
44 Antiparkinson Agents Phase 4
45 Carbidopa, levodopa drug combination Phase 4
46 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
47 Anesthetics Phase 4
48 Cytidine Diphosphate Choline Phase 4
49 Analgesics Phase 4
50 Anti-Allergic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 735)
# Name Status NCT ID Phase Drugs
1 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
2 Evaluation of Safety and Efficacy of Glaucoma Shunt (Aurolab Artificial Drainage Implant) in Refractory Glaucoma Unknown status NCT01401088 Phase 4
3 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
4 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
5 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
6 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
7 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
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 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)
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 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
14 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%
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 Topical Brimonidine vs Argon Laser Trabeculoplasty in Progressing Human Glaucoma. A Prospective Randomized Clinical Trial. Completed NCT00466479 Phase 4 brimonidine
21 The Effect of Intravitreal Aflibercept on Ocular Perfusion - a Pilot Study Completed NCT03804099 Phase 4 Aflibercept Injection [Eylea]
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 The Effect of Brimonidine on Intraocular Pressure When Dilating Routine Patients, Pressure Control and Pupil Effects Completed NCT03959176 Phase 4 Brimonidine;Tropicamide;Phenylephrine Ophthalmic Product
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 Phase IV Study of Micropulse Laser Trabeculoplasty Versus Selective Laser Trabeculoplasty for Treatment of Open Angle Glaucoma Completed NCT01956942 Phase 4
29 Comparison of Dexmedetomidine vs. Propofol in Vitreoretinal Surgery Under Sub-Tenon's Block Completed NCT01001429 Phase 4 Dexmedetomidine infusion;propofol
30 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
31 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)
32 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
33 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
34 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
35 A Phase IV Trial of Neuroprotection With ACTH in Acute Optic Neuritis Recruiting NCT01838174 Phase 4 ACTHAR Gel (ACTH);IV methylprednisolone (steroids)
36 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
37 Sevoflurane Versus Propofol on Optic Nerve Sheath Diameter During Anesthesia in Steep Trendelenburg Position Recruiting NCT04289090 Phase 4 Sevoflurane Inhalant Product;Propofol 10 MG/ML
38 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
39 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
40 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
41 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
42 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
43 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 Active, not recruiting NCT03117634 Phase 4 Treat and Extend with Aflibercept 2mg;Fixed Dosing with Aflibercept 2mg
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 Effect of Nailfold Application of Latanoprostene Bunod on Nailfold Capillary Blood Flow Suspended NCT03949244 Phase 4 Latanoprost 0.005%;Latanoprost bunod 0.024%;Normal saline 0.9%
46 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
47 Modeling and Treating the Pathophysiology of Demyelination in Multiple Sclerosis Terminated NCT00854750 Phase 4 ACTHAR;ACTHAR;ACTHAR;ACTHAR
48 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
49 Retrobulbar Triamcinolone Acetonide Injection in the Treatment of Nonarteritic Anterior Ischemic Optic Neuropathy Unknown status NCT02329288 Phase 3 Triamcinolone Acetonide;placebo
50 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

Search NIH Clinical Center for Optic Nerve Disease

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Genetic Tests for Optic Nerve Disease

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Anatomical Context for Optic Nerve Disease

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

19
Optic Nerve

MalaCards organs/tissues related to Optic Nerve Disease:

40
Eye, Thyroid, Brain, Retina, Testes, Pituitary, Bone
Sources

Publications for Optic Nerve Disease

About this section

Articles related to Optic Nerve Disease:

(show top 50) (show all 9146)
# Title Authors PMID Year
1
Prognostic utility of optical coherence tomography for long-term visual recovery following pituitary tumor surgery. 42
32533947 2020
2
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs. 42
32286748 2020
3
Effect of 5 different cervical collars on optic nerve sheath diameter: A randomized crossover trial. 42
32311968 2020
4
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. 54 61
20157369 2010
5
Nonarteritic ischaemic optic neuropathy (NAION) after 36 h of intake of sildenafil citrate: first Egyptian case. 54 61
19737280 2009
6
Phosphodiesterase inhibitors and the eye. 61 54
19624350 2009
7
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 61 54
19325939 2009
8
Nonarteritic anterior ischemic optic neuropathy with PDE-5 inhibitors for erectile dysfunction. 61 54
18528398 2008
9
Role of the ETB receptor in retinal ganglion cell death in glaucoma. 54 61
18516102 2008
10
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 54 61
18158317 2008
11
Current safety and tolerability issues in men with erectile dysfunction receiving PDE5 inhibitors. 54 61
17655683 2007
12
Endothelin-1, endothelin A and B receptor expression and their pharmacological properties in GFAP negative human lamina cribrosa cells. 54 61
17433294 2007
13
The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. 61 54
17197509 2007
14
Mitochondrial abnormalities in patients with LHON-like optic neuropathies. 54 61
17003408 2006
15
Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. 61 54
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. 61 54
16081055 2005
17
Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. 54 61
15728653 2005
18
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. 61 54
15781809 2005
19
Chronic ischemia induces regional axonal damage in experimental primate optic neuropathy. 54 61
15477464 2004
20
[Optic neuropathy in biotinidase deficiency]. 54 61
15306966 2004
21
[Study on the optic neuropathy induced response protein gene mutation in Chinese patients with primary open-angle glaucoma]. 61 54
15312511 2004
22
Optineurin in primary open angle glaucoma. 54 61
14740994 2003
23
Suppression of complex I gene expression induces optic neuropathy. 54 61
12557286 2003
24
Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. 61 54
12379221 2002
25
Mutation spectrum and splicing variants in the OPA1 gene. 54 61
11810270 2001
26
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 54 61
11133798 2001
27
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 54 61
11017079 2000
28
Physiology of perfusion as it relates to the optic nerve head. 54 61
10416744 1999
29
Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. 54 61
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. 61 54
9493554 1998
31
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 61 54
9433860 1997
32
The preventive effect of aldose reductase inhibition on diabetic optic neuropathy in the BB/W-rat. 61 54
8243866 1993
33
[Juvenile optic neuropathy caused by Km variants of biotinidase]. 54 61
1315891 1992
34
A biotinidase Km variant causing late onset bilateral optic neuropathy. 54 61
1739323 1992
35
Reversibility of visual field defects through induction of brain plasticity: vision restoration, recovery and rehabilitation using alternating current stimulation. 61
32246620 2020
36
Rapid visual field constriction in a patient with retinitis pigmentosa and pituitary adenoma. 61
32566799 2020
37
A rare case of neurofibromatosis type I with unilateral congenital ectropion uveae and glaucoma. 61
32490286 2020
38
Papillomacular retinoschisis associated with glaucoma: Response to topical carbonic anhydrase inhibitor. 61
32490282 2020
39
Lycium barbarum polysaccharides protects retinal ganglion cells against oxidative stress injury. 61
31997818 2020
40
Prognostic value of macular ganglion cell layer thickness for visual outcome in parasellar tumors. 61
32302803 2020
41
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 61
32219868 2020
42
Optic nerve atrophy and whole and regional brain atrophy in Leber's hereditary optic neuropathy with multiple sclerosis-like disease with m.11778G>A mutation. 61
32387972 2020
43
Radiation optic neuropathy and stroke suspicion. 61
32571566 2020
44
The rapid N-wave as a potentially useful measure of the photopic negative response. 61
32507902 2020
45
Electro-oculography in bilateral optic neuropathy. 61
32571391 2020
46
Endogenous endophthalmitis and bilateral optic neuropathy secondary to Mycobacterium bovis. 61
31879069 2020
47
Randomized control trial of evaluation of Clemastine effects on visual evoked potential, nerve fiber layer and ganglion cell layer complex in patients with optic neuritis. 61
32145678 2020
48
Effects of adenosine triphosphate on methanol-induced experimental optic nerve damage in rats: biochemical and histopathological evaluation. 61
32543996 2020
49
Transient vision loss after optic nerve sheath fenestration. 61
31537140 2020
50
Mitochondrial lipid profiling data of a traumatic optic neuropathy model. 61
32426428 2020
Sources

Variations for Optic Nerve Disease

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ClinVar genetic disease variations for Optic Nerve Disease:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KARS1 NM_001130089.1(KARS1):c.871T>G (p.Phe291Val)SNV Pathogenic 562001 rs772410450 16:75669586-75669586 16:75635688-75635688
2 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg)SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
3 MT-ND1 m.3700G>ASNV Pathogenic 65519 rs397515508 MT:3700-3700 MT:3700-3700
4 FOXG1 NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)SNV Pathogenic 453289 rs267606826 14:29237109-29237109 14:28767903-28767903
5 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940
6 KARS1 NM_005548.2(KARS1):c.599C>T (p.Pro200Leu)SNV Likely pathogenic 224983 rs201650281 16:75669880-75669880 16:75635982-75635982
7 MT-ATP8 NC_012920.1:m.8418T>CSNV Likely pathogenic 370050 rs1057516062 MT:8418-8418 MT:8418-8418
8 MT-ATP6 NC_012920.1:m.9166T>CSNV Uncertain significance 370051 rs1057516063 MT:9166-9166 MT:9166-9166
9 MT-ND4 NC_012920.1:m.11443A>CSNV Uncertain significance 523305 rs1556423952 MT:11443-11443 MT:11443-11443
10 GLI2 NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)SNV Likely benign 373963 rs1057518803 2:121685042-121685042 2:120927466-120927466
11 CHD2 NM_001271.4(CHD2):c.949A>G (p.Ile317Val)SNV Likely benign 373964 rs750380444 15:93486195-93486195 15:92942965-92942965
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
Parkinson disease 36
Show member pathways
 12.4 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MFN2 MFN1
2
GABAergic synapse 36
Show member pathways
 12.07 NDUFA1 MT-ND6 MT-ND4 MT-ND1
3
Glucose / Energy Metabolism 4
11.95 TYR OPA1 MFN2 MFN1
4
Mitophagy - animal 36
10.63 OPTN MFN2 MFN1
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 mitochondrial inner membrane GO:0005743 9.8 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
2 mitochondrial outer membrane GO:0005741 9.65 OPA1 MYOC MFN2 MFN1 DNM1L
3 mitochondrion GO:0005739 9.65 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
4 mitochondrial respiratory chain complex I GO:0005747 9.58 NDUFA1 MT-ND4 MT-ND1
5 respiratory chain GO:0070469 9.46 NDUFA1 MT-ND6 MT-ND4 MT-ND1
6 intrinsic component of mitochondrial outer membrane GO:0031306 9.37 MFN2 MFN1
7 mitochondrial membrane GO:0031966 9.1 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 DNM1L

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein complex oligomerization GO:0051259 9.51 OPA1 DNM1L
2 mitochondrial fission GO:0000266 9.49 OPA1 DNM1L
3 GTP metabolic process GO:0046039 9.48 OPA1 MFN1
4 mitochondrion localization GO:0051646 9.46 MFN2 MFN1
5 intracellular distribution of mitochondria GO:0048312 9.43 OPA1 DNM1L
6 response to nicotine GO:0035094 9.43 MT-ND6 MT-ND4 EDN1
7 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.4 OPA1 DNM1L
8 organelle fission GO:0048285 9.37 OPA1 DNM1L
9 mitochondrial fusion GO:0008053 9.33 OPA1 MFN2 MFN1
10 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization GO:0061734 9.32 OPTN MFN2
11 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 NDUFA1 MT-ND6 MT-ND4 MT-ND1
12 mitochondrial electron transport, NADH to ubiquinone GO:0006120 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 GTPase activity GO:0003924 9.46 OPA1 MFN2 MFN1 DNM1L
2 NADH dehydrogenase activity GO:0003954 8.96 MT-ND4 MT-ND1
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 NDUFA1 MT-ND6 MT-ND4 MT-ND1
Sources

Sources for Optic Nerve Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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