MCID: OPT006
MIFTS: 60

Optic Nerve Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Optic Nerve Disease

MalaCards integrated aliases for Optic Nerve Disease:

Name: Optic Nerve Disease 12 15
Optic Neuropathy 12 38 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:



External Ids:

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

Summaries for Optic Nerve Disease

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 growth/size/body region and behavior/neurological

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...

Related Diseases for Optic Nerve Disease

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

(show top 50) (show all 969)
# Related Disease Score Top Affiliating Genes
1 leber hereditary optic neuropathy 34.5 MT-ND1 MT-ND4 MT-ND6 MYOC NDUFA1 OPA1
2 ischemic optic neuropathy 34.3 EDN1 MT-ND1 PDE5A
3 leber optic atrophy and dystonia 34.1 MT-ND1 MT-ND4 MT-ND6
4 leber optic atrophy 33.2 MT-ND1 MT-ND4 MT-ND6
5 spastic paraplegia 7, autosomal recessive 32.7 MFN2 MT-ND4 OPA1
6 optic atrophy 1 32.6 MFN2 OPA1
7 3-methylglutaconic aciduria, type iii 32.4 ANTXR1 BTD MFN2 MT-ND4 MT-ND6 OPA1
8 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.2 MT-ND1 MT-ND4 MT-ND6
9 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 32.1 OPA1 OPA3
10 glaucoma, normal tension 32.1 OPA1 OPTN
11 optic neuritis 32.0 AQP4 MBP MOG MT-ND4
12 neuritis 31.4 AQP4 MBP MOG
13 open-angle glaucoma 31.1 ELN MYOC OPTN
14 low tension glaucoma 31.0 EDN1 MYOC OPTN
15 allergic encephalomyelitis 31.0 MBP MOG
16 glaucoma, primary open angle 30.9 ELN MYOC OPTN
17 neuromyelitis optica 30.8 AQP4 MBP MOG
18 myelitis 30.6 AQP4 MBP MOG
19 kearns-sayre syndrome 30.4 MT-ND1 MT-ND4 MT-ND6
20 leigh syndrome 30.4 MT-ND1 MT-ND4 MT-ND6 NDUFA1
21 mitochondrial metabolism disease 30.4 MT-ND4 MT-ND6 NDUFA1 OPA1
22 peripheral nervous system disease 30.3 AQP4 MBP MFN2 MOG MT-ND4 MT-ND6
23 nervous system disease 30.3 AQP4 MBP MOG OPTN
24 glaucoma 1, open angle, a 30.3 MYOC OPTN
25 neuropathy 30.2 MFN2 MT-ND1 MT-ND4 MT-ND6
26 scotoma 30.2 MT-ND4 OPA1
27 acute retrobulbar neuritis 30.2 EDN1 MBP MT-ND4
28 lactic acidosis 30.2 KARS MT-ND1 MT-ND4 MT-ND6
29 acute disseminated encephalomyelitis 30.1 AQP4 MBP MOG
30 central nervous system disease 30.1 AQP4 MBP MOG
31 autoimmune optic neuritis 30.1 AQP4 MBP MOG
32 demyelinating disease 30.0 AQP4 MBP MOG
33 charcot-marie-tooth disease 29.6 KARS MBP MFN2 OPA1
34 nonarteritic anterior ischemic optic neuropathy 12.8
35 coloboma of optic nerve 12.7
36 optic nerve glioma 12.6
37 short stature, optic nerve atrophy, and pelger-huet anomaly 12.6
38 arteritic anterior ischemic optic neuropathy 12.5
39 optic nerve neoplasm 12.4
40 optic nerve astrocytoma 12.4
41 optic nerve hypoplasia, familial bilateral 12.4
42 toxic optic neuropathy 12.3
43 childhood optic nerve glioma 12.3
44 papillorenal syndrome 12.3
45 nutritional optic neuropathy 12.3
46 chronic relapsing inflammatory optic neuropathy 12.2
47 bilateral meningioma of optic nerve 12.2
48 autoimmune-related retinopathy and optic neuropathy 12.2
49 foveal hypoplasia 2 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

Symptoms & Phenotypes for Optic Nerve Disease

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 growth/size/body region MP:0005378 10.15 ANTXR1 AQP4 BTD EDN1 MBP MFN2
2 behavior/neurological MP:0005386 10.1 AQP4 BTD MBP MFN2 MOG NDUFA1
3 homeostasis/metabolism MP:0005376 10.1 AQP4 BTD EDN1 MBP MFN2 MT-ND6
4 mortality/aging MP:0010768 10.03 ANTXR1 AQP4 EDN1 KARS MBP MFN2
5 muscle MP:0005369 9.7 BTD EDN1 MFN2 MOG MT-ND6 OPA1
6 nervous system MP:0003631 9.65 AQP4 EDN1 MBP MFN2 MOG MT-ND6
7 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 364)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4,Phase 2,Not Applicable 120279-96-1 5284549 3154
2
Timolol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 26839-75-8 5478 33624
3
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 53-03-2 5865
4
Mycophenolic acid Approved Phase 4 24280-93-1 446541
5
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
6
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 216974-75-3
7
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 302-25-0
8
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2921-57-5
9
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-24-8 5755
10
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83-43-2 6741
11
Brinzolamide Approved Phase 4,Phase 3 138890-62-7 68844
12
Travoprost Approved Phase 4,Phase 3 157283-68-6 5282226
13
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
14
4-Aminopyridine Approved Phase 4,Phase 2,Phase 3 504-24-5 1727
15
Carbidopa Approved Phase 4 28860-95-9 34359
16
Dopamine Approved Phase 4,Not Applicable 62-31-7, 51-61-6 681
17
Levodopa Approved Phase 4 59-92-7 6047
18
Methimazole Approved Phase 4 60-56-0 1349907
19
Propranolol Approved, Investigational Phase 4 525-66-6 4946
20
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
21
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
22
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
23
Dronedarone Approved Phase 4 141626-36-0, 141625-93-6 154087
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
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
32
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
33
Minocycline Approved, Investigational Phase 4,Phase 2 10118-90-8 5281021
34
Lymecycline Approved, Investigational Phase 4 992-21-2 5280963
35
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
36
Clarithromycin Approved Phase 4 81103-11-9 84029
37
Azithromycin Approved Phase 4 83905-01-5 447043 55185
38
Ofloxacin Approved Phase 4 82419-36-1 4583
39
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
40
leucovorin Approved Phase 4 58-05-9 143 6006
41
Choline Approved, Nutraceutical Phase 4,Not Applicable 62-49-7 305
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-30-3 6037
43
Maleic acid Experimental, Investigational Phase 4,Phase 1 110-17-8, 110-16-7 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 Carbonic Anhydrase Inhibitors Phase 4,Phase 2,Not Applicable
47 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 388)
# 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 Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation Completed NCT02652780 Phase 3
50 Optic Neuritis Recovery After Oral or IV Corticosteroids Completed NCT01524250 Phase 2, Phase 3 corticosteroids;corticosteroids

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:

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

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

20
The Optic Nerve

Publications for Optic Nerve Disease

Articles related to Optic Nerve Disease:

(show top 50) (show all 3408)
# 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
Choroidal Vascular Changes in Arteritic and Non-arteritic Anterior Ischemic Optic Neuropathy. ( 30954470 )
2019
8
Retinal Vessel Phenotype in Patients with Non-Arteritic Anterior Ischemic Optic Neuropathy. ( 31004591 )
2019
9
The Difficulty of Diagnosing Invasive Aspergillosis Initially Manifesting as Optic Neuropathy. ( 30792652 )
2019
10
Indirect Traumatic Optic Neuropathy in Mild Chronic Traumatic Brain Injury. ( 31067321 )
2019
11
Orbital apex venous cavernous malformation with optic neuropathy: treatment with multisession gamma knife radiosurgery. ( 30612095 )
2019
12
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. ( 30891321 )
2019
13
Charles Bonnet syndrome in Leber's hereditary optic neuropathy. ( 30687896 )
2019
14
Visual loss and optic neuropathy associated with Wernicke's encephalopathy in hyperemesis gravidarum. ( 31041282 )
2019
15
Previously Diagnosed Leber's Hereditary Optic Neuropathy with Clinical Signs of Idiopathic Intracranial Hypertension Responsive to Acetazolamide Therapy. ( 30820297 )
2019
16
Ischemic optic neuropathy in robotic-assisted gynaecologic surgery: A case report. ( 30520549 )
2019
17
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
18
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
19
Risk of Stroke after Nonarteritic Anterior Ischemic Optic Neuropathy. ( 30633893 )
2019
20
Early Macular Vessel Density Loss in Acute Ischemic Optic Neuropathy Compared to Papilledema: Implications for Pathogenesis. ( 30637176 )
2019
21
A comparative study on clinical features of anterior ischemic optic neuropathy and idiopathic optic neuritis. ( 30784250 )
2019
22
Ischemic Optic Neuropathy following Spine Surgery: Case Series and Systematic Review of the Literature. ( 30817727 )
2019
23
Optical Coherence Tomography Angiography of a Pale Optic Disc in Demyelinating Optic Neuritis and Ischemic Optic Neuropathy. ( 30893268 )
2019
24
Early Ganglion Cell or Macular Vessel Loss After Acute Nonarteritic Anterior Ischemic Optic Neuropathy? ( 30972233 )
2019
25
Effect of Intravenous Anesthetic Agents on Ocular Nerve Blood Supply and Their Role in Nonarteritic Ischemic Optic Neuropathy. ( 31022064 )
2019
26
Increased ER Stress After Experimental Ischemic Optic Neuropathy and Improved RGC and Oligodendrocyte Survival After Treatment With Chemical Chaperon. ( 31060051 )
2019
27
Anterior Ischemic Optic Neuropathy After Dental Extraction: Response. ( 31094998 )
2019
28
Anterior Ischemic Optic Neuropathy After Dental Extraction: Comment. ( 31094999 )
2019
29
Risk of Stroke After Nonarteritic Anterior Ischemic Optic Neuropathy. ( 31109627 )
2019
30
Lamina cribrosa position and Bruch's membrane opening differences between anterior ischemic optic neuropathy and open-angle glaucoma. ( 29911429 )
2019
31
Anterior Ischemic Optic Neuropathy After Dental Extraction. ( 30179990 )
2019
32
Risk Factors for Fellow Eye Involvement in Nonarteritic Anterior Ischemic Optic Neuropathy. ( 30300257 )
2019
33
Sequential nonarteritic anterior ischemic optic neuropathy in patient on chronic hemodialysis. ( 30460468 )
2019
34
Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber Hereditary Optic Neuropathy and the G11778A Mutation. ( 29554000 )
2019
35
Leber Hereditary Optic Neuropathy in a Mother and Daughter Associated With m.10197G>A Mutation. ( 30199507 )
2019
36
Peripapillary microcirculation in Leber hereditary optic neuropathy. ( 30259673 )
2019
37
Treatment strategies for Leber hereditary optic neuropathy. ( 30516647 )
2019
38
Repetitive brainstem lesions in mitochondrial DNA 11778G>A mutation of Leber hereditary optic neuropathy. ( 30705974 )
2019
39
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
40
Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease. ( 30829945 )
2019
41
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
42
Propagation and Selectivity of Axonal Loss in Leber Hereditary Optic Neuropathy. ( 31040363 )
2019
43
Optic neuropathy in extramedullary, blast crisis of chronic myeloid leukemia. ( 31109500 )
2019
44
Acute Unilateral Vision Loss Due to Optic Neuropathy in a Patient with Systemic Lupus Erythematosus. ( 30670677 )
2019
45
Predictors of the therapeutic effect of corticosteroids on radiation-induced optic neuropathy following nasopharyngeal carcinoma. ( 30834973 )
2019
46
Ethambutol-induced optic neuropathy in renal disorder: a clinico-electrophysiological study. ( 31109468 )
2019
47
Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy. ( 30911824 )
2019
48
Prognostic factors for visual acuity in patients with Leber's hereditary optic neuropathy after rAAV2-ND4 gene therapy. ( 30968497 )
2019
49
Severe sequential visual loss in MS co-diagnosis of Leber's hereditary optic neuropathy. ( 30975365 )
2019
50
Compressive optic neuropathy in non-thyroidal lymphocytic infiltrative disorders of the extraocular muscles. ( 30975370 )
2019

Variations for Optic Nerve Disease

ClinVar genetic disease variations for Optic Nerve Disease:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
2 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh38 Chromosome 11, 89178218: 89178218
3 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh37 Chromosome MT, 3700: 3700
4 MT-ND1 m.3700G> A single nucleotide variant Pathogenic rs397515508 GRCh38 Chromosome MT, 3700: 3700
5 KARS NM_005548.2(KARS): c.599C> T (p.Pro200Leu) single nucleotide variant Likely pathogenic rs201650281 GRCh37 Chromosome 16, 75669880: 75669880
6 KARS NM_005548.2(KARS): c.599C> T (p.Pro200Leu) single nucleotide variant Likely pathogenic rs201650281 GRCh38 Chromosome 16, 75635982: 75635982
7 MT-ATP8 NC_012920.1: m.8418T> C single nucleotide variant Likely pathogenic rs1057516062 GRCh37 Chromosome MT, 8418: 8418
8 MT-ATP8 NC_012920.1: m.8418T> C single nucleotide variant Likely pathogenic rs1057516062 GRCh38 Chromosome MT, 8418: 8418
9 MT-ATP6 NC_012920.1: m.9166T> C single nucleotide variant Likely pathogenic rs1057516063 GRCh37 Chromosome MT, 9166: 9166
10 MT-ATP6 NC_012920.1: m.9166T> C single nucleotide variant Likely pathogenic rs1057516063 GRCh38 Chromosome MT, 9166: 9166
11 GLI2 NM_005270.4(GLI2): c.254G> C (p.Gly85Ala) single nucleotide variant Likely benign rs1057518803 GRCh37 Chromosome 2, 121685042: 121685042
12 GLI2 NM_005270.4(GLI2): c.254G> C (p.Gly85Ala) single nucleotide variant Likely benign rs1057518803 GRCh38 Chromosome 2, 120927466: 120927466
13 CHD2 NM_001271.3(CHD2): c.949A> G (p.Ile317Val) single nucleotide variant Likely benign rs750380444 GRCh37 Chromosome 15, 93486195: 93486195
14 CHD2 NM_001271.3(CHD2): c.949A> G (p.Ile317Val) single nucleotide variant Likely benign rs750380444 GRCh38 Chromosome 15, 92942965: 92942965
15 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh38 Chromosome 11, 89284940: 89284940
16 TYR NM_000372.4(TYR): c.1352A> G (p.Tyr451Cys) single nucleotide variant Likely pathogenic rs376823382 GRCh37 Chromosome 11, 89018108: 89018108
17 MT-ND4 NC_012920.1: m.11443A> C single nucleotide variant Uncertain significance rs1556423952 GRCh37 Chromosome MT, 11443: 11443
18 MT-ND4 NC_012920.1: m.11443A> C single nucleotide variant Uncertain significance rs1556423952 GRCh38 Chromosome MT, 11443: 11443
19 KARS NM_001130089.1(KARS): c.871T> G (p.Phe291Val) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 75635688: 75635688
20 KARS NM_001130089.1(KARS): c.871T> G (p.Phe291Val) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 75669586: 75669586

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 MT-ND1 MT-ND4 MT-ND6 NDUFA1
2 11.41 MFN2 OPA1 TYR WFS1

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 9.86 KARS MFN2 MT-ND1 MT-ND4 MYOC NDUFA1
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 9.5 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 visual perception GO:0007601 9.67 OPA1 OPA3 TYR WFS1
2 central nervous system development GO:0007417 9.63 BTD MBP MOG
3 positive regulation of cardiac muscle hypertrophy GO:0010613 9.49 EDN1 PDE5A
4 mitochondrion morphogenesis GO:0070584 9.48 OPA1 OPA3
5 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.43 OPA1 WFS1
6 mitochondrial fusion GO:0008053 9.4 MFN2 OPA1
7 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.33 MT-ND1 MT-ND4 NDUFA1
8 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization GO:0061734 9.32 MFN2 OPTN
9 positive regulation of metallopeptidase activity GO:1905050 9.26 ANTXR1 KARS
10 response to nicotine GO:0035094 9.13 EDN1 MT-ND4 MT-ND6
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 for Optic Nerve Disease

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
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