MCID: OPT006
MIFTS: 57

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 36 54 6 15 70
Abnormality of the Optic Nerve 6
Disorder of the Second Nerve 12
Disorder of the Optic Nerve 70
Optic Nerve Disorders 42
Optic Nerve Disorder 12
Neuropathy, Optic 39
Optic Nerve 73

Classifications:



External Ids:

Disease Ontology 12 DOID:1891
KEGG 36 H01719
MeSH 44 D009901
NCIt 50 C79698
SNOMED-CT 67 77157004
ICD10 32 H47.0
UMLS 70 C0029132 C3887709

Summaries for Optic Nerve Disease

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 leber hereditary optic neuropathy, modifier of and leber optic atrophy and dystonia, and has symptoms including sciatica and eye manifestations. An important gene associated with Optic Nerve Disease is TYR (Tyrosinase), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases. The drugs Acetazolamide and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include optic nerve, eye and thyroid, and related phenotype is hearing/vestibular/ear.

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 : 73 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 1570)
# Related Disease Score Top Affiliating Genes
1 leber hereditary optic neuropathy, modifier of 33.8 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
2 leber optic atrophy and dystonia 33.5 MT-ND6 MT-ND4 MT-ND1
3 toxic optic neuropathy 33.0 MT-ND6 MT-ND4 AQP4
4 mitochondrial complex i deficiency, nuclear type 1 32.8 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
5 glaucoma-related pigment dispersion syndrome 32.6 OPTN MYOC
6 aniridia 1 32.5 PAX6 MYOC ELP4
7 3-methylglutaconic aciduria, type iii 32.5 OPA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6 BTD
8 aniridia 2 32.5 PAX6 ELP4
9 glaucoma 3, primary congenital, a 32.5 PAX6 OPTN MYOC
10 optic neuritis 32.5 MT-ND6 MT-ND4 AQP4
11 optic nerve hypoplasia, bilateral 32.4 PAX6 MYOC ELP4 EDN1
12 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.4 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
13 primary congenital glaucoma 32.3 PAX6 OPTN MYOC
14 glaucoma 1, open angle, a 32.3 OPTN MYOC
15 optic atrophy 5 32.2 OPA1 MT-ND6 MT-ND4
16 optic atrophy 7 with or without auditory neuropathy 32.2 MT-ND6 MT-ND4
17 hydrophthalmos 32.2 PAX6 MYOC
18 leber plus disease 31.9 PAX6 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
19 open-angle glaucoma 31.9 OPTN OPA1 MYOC EDN1
20 glaucoma, primary open angle 31.8 PAX6 OPTN MYOC EDN1
21 kearns-sayre syndrome 31.6 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
22 mitochondrial metabolism disease 31.6 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
23 mitochondrial disorders 31.5 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
24 leigh syndrome 31.4 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
25 pathologic nystagmus 31.3 TYR PAX6 ELP4
26 sensorineural hearing loss 31.3 OPA1 MT-ND6 MT-ATP6 KARS1 BTD
27 lactic acidosis 31.2 MT-ND6 MT-ND4 MT-ND1 MT-ATP6 LIPT1 KARS1
28 myopathy 31.2 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
29 glaucoma, normal tension 31.2 OPTN OPA1 MYOC EDN1
30 hereditary optic neuropathy 31.2 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
31 mitochondrial encephalomyopathy 31.1 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8
32 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 31.1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
33 acute closed-angle glaucoma 31.0 OPTN MYOC
34 chronic progressive external ophthalmoplegia 31.0 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
35 acute retrobulbar neuritis 31.0 MT-ND4 AQP4
36 mitochondrial myopathy 30.9 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
37 retinitis pigmentosa 30.9 TYR PAX6 MYOC MT-ND6 MT-ND4 MT-ND1
38 cortical blindness 30.9 MT-ND6 MT-ND4 MT-ND1
39 keratitis, hereditary 30.8 PAX6 MYOC ELP4
40 hypertelorism 30.8 PAX6 MT-ATP6 ELP4
41 mitochondrial dna-associated leigh syndrome and narp 30.8 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
42 optic atrophy 4 30.8 OPA1 MT-ND6 MT-ND4
43 yemenite deaf-blind hypopigmentation syndrome 30.7 OPTN MT-ND6
44 exposure keratitis 30.7 NDUFA1 MT-ND4
45 neuropathy 30.7 OPTN OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1
46 intraocular pressure quantitative trait locus 30.7 PAX6 OPTN OPA1 MYOC EDN1 AQP4
47 scotoma 30.7 OPA1 MT-ND6 MT-ND4 AQP4
48 peripheral nervous system disease 30.7 OPA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6 AQP4
49 early myoclonic encephalopathy 30.6 MT-ND6 MT-ND4 MT-ATP6
50 myoclonic epilepsy associated with ragged-red fibers 30.5 MT-ND6 MT-ND4 MT-ND1 MT-ATP6

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 hearing/vestibular/ear MP:0005377 9.1 AQP4 EDN1 FOXG1 OPA1 PAX6 TYR

Drugs & Therapeutics for Optic Nerve Disease

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

(show top 50) (show all 197)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Carbidopa Approved Phase 4 28860-95-9 34359
8
Levodopa Approved Phase 4 59-92-7 6047
9
4-Aminopyridine Approved Phase 4 504-24-5 1727
10
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
14
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
15 Carbonic Anhydrase Inhibitors Phase 4
16 Anticonvulsants Phase 4
17 Hormone Antagonists Phase 4
18 Methylprednisolone Acetate Phase 4
19 glucocorticoids Phase 4
20 Hormones Phase 4
21 Antineoplastic Agents, Hormonal Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Dopamine agonists Phase 4
24 Carbidopa, levodopa drug combination Phase 4
25 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
26 Antiparkinson Agents Phase 4
27 Potassium Channel Blockers Phase 4
28 Platelet Aggregation Inhibitors Phase 4
29 Anesthetics Phase 4
30 Hypnotics and Sedatives Phase 4
31 Anesthetics, General Phase 4
32 Anesthetics, Intravenous Phase 4
33 Anesthetics, Inhalation Phase 4
34 Phosphodiesterase 5 Inhibitors Phase 4
35 Sildenafil Citrate Phase 4 171599-83-0
36 Vardenafil Dihydrochloride Phase 4
37
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
38
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
39
Bezafibrate Approved, Investigational Phase 2, Phase 3 41859-67-0 39042
40
Linezolid Approved, Investigational Phase 3 165800-03-3 441401
41 Pharmaceutical Solutions Phase 2, Phase 3
42 Neuroprotective Agents Phase 3
43 Anti-Infective Agents, Local Phase 2, Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 3
45 Antioxidants Phase 3
46 Lipid Regulating Agents Phase 2, Phase 3
47 Antimetabolites Phase 2, Phase 3
48 Hypolipidemic Agents Phase 2, Phase 3
49 Epoetin alfa Phase 3 113427-24-0
50 Hematinics Phase 3

Interventional clinical trials:

(show top 50) (show all 314)
# 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 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 Citicoline
3 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
4 Effect of Levodopa-Carbidopa on Visual Function in Patients With Recent-Onset Nonarteritic Anterior Ischemic Optic Neuropathy Completed NCT00432393 Phase 4 levodopa-carbidopa
5 Dalfampridine Treatment for Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT01975324 Phase 4 dalfampridine;Placebo
6 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
7 Use of Bevacizumab in Trabeculectomy Surgery. A Prospective, 2 Centre, Randomized, Controlled Trial Completed NCT01166594 Phase 4 Bevacizumab;Control
8 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
9 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
10 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
11 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
12 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
13 Effect of Bosentan in Patients With Non Arteritic Ischemic Optic Neuropathy Unknown status NCT02377271 Phase 3 bosentan;placebo
14 Retrobulbar Triamcinolone Acetonide Injection in the Treatment of Nonarteritic Anterior Ischemic Optic Neuropathy Unknown status NCT02329288 Phase 3 Triamcinolone Acetonide;placebo
15 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
16 Scientific Research and Development of Innovative Evidence Based Non-invasive Brain Diagnostic and Monitoring Solutions for Neurological and Traumatic Brain Injury Patients Unknown status NCT02130219 Phase 2, Phase 3
17 Ischemic Optic Neuropathy Decompression Trial (IONDT) Completed NCT00000127 Phase 3
18 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
19 Traumatic Optic Neuropathy Treatment Trial 2; Efficacy of Different Doses of Erythropoietin. A Multicenter, Double Blind RCT Recruiting NCT03308448 Phase 3 Recombinant human erythropoietin
20 Study of Efficacy of Befizal® 200 mg for the Treatment of Leber Hereditary Optic Neuropathy Recruiting NCT04561466 Phase 2, Phase 3 Béfizal
21 Erythropoietin in Methanol Associated Optic Neuropathy Active, not recruiting NCT02376881 Phase 3 Erythropoietin
22 A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
23 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
24 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials Active, not recruiting NCT03406104 Phase 3
25 The Role of Optic Nerve Sheath Fenestration in Leukemic Patients Having Increased Intracranial Pressure Active, not recruiting NCT04431882 Phase 2, Phase 3
26 Prospective Study Of Ophthalmologic Function In Patients Receiving Linezolid For Six Weeks Or Greater Terminated NCT00359632 Phase 3 Zyvox - linezolid;Matched control
27 A Phase 2/3, Randomized, Double-Masked, Sham-Controlled Trial of QPI-1007 Delivered By Single or Multi-Dose Intravitreal Injection(s) to Subjects With Acute Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Terminated NCT02341560 Phase 2, Phase 3 QPI-1007 Injection - 1.5 mg;QPI-1007 Injection - 3.0 mg
28 Randomized Trial of Medical Therapy (MT) vs. MT Plus Optic Nerve Sheath Fenestration vs. MT Plus Ventriculoperitoneal Cerebrospinal Fluid Shunting in Subjects With Idiopathic Intracranial Hypertension and Moderate to Severe Visual Loss Terminated NCT03501966 Phase 3 Acetazolamide
29 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
30 A Randomized Phase 3 Study of Antineoplastons A10 and AS2-1 vs. Temozolomide in Subjects With Recurrent and / or Progressive Optic Pathway Glioma After Carboplatin or Cisplatin Therapy Withdrawn NCT01260103 Phase 3 Temozolomide;ANP Therapy
31 Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834079 Phase 1, Phase 2
32 Prospective, Unicentric, Randomized, Parallel, Double-blind, Placebo-controlled Phase II Clinical Trial to Evaluate Intravenous Infusion of Prostaglandins as Therapy in Patients With Anterior Non-arteritic Ischemic Optic Neuropathy Unknown status NCT03851562 Phase 2 Alprostadil 20 micrograms;Placebo
33 Scientific Title: Efficacy of Oral Prednisolone and Erythropoietin Injection in Treatment of Acute Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) Unknown status NCT03715881 Phase 2 Oral prednisolone administration 50 mg;Intravenous Erythropoietin injection
34 Comparison of Intravitreal Bevacizumab and Triamcinolone With Placebo in Acute Nonarteritic Anterior Ischemic Optic Neuropathy Unknown status NCT01330524 Phase 1, Phase 2 Avastin and Triamcinolone
35 Intravitreal Bevacizumab for Treatment of the Second Eye With Non-Arteritic Ischemic Optic Neuropathy Unknown status NCT00813059 Phase 2 Intra-vitreal injection of bevacizumab (1.25mg/0.05ml)
36 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
37 A Preliminary Double Blind Clinical Study, Efficacy Study of RPh201 Treatment of Ischemic Optic Neuropathy (ION). Completed NCT02045212 Phase 2 RPh201;Placebo
38 Study of Visual Recovery After Erythropoietin (EPO) Injection, in Patients With Traumatic Optic Neuropathy (TON) Completed NCT01783847 Phase 1, Phase 2 Recombinant human erythropoietin (EPO);Methyl prednisolone
39 Neurotomy of Optic Nerve in Non-Arthritic Anterior Ischemic Optic Neuropathy Completed NCT00372021 Phase 1, Phase 2
40 Evaluation of the Effect of Subcutaneous Injection of Erythropoietin on Visual Functions in Patients With Late Onset Optic Neuropathy Completed NCT04469777 Phase 1, Phase 2 erythropoietin
41 An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene Completed NCT02064569 Phase 1, Phase 2
42 A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
43 A Prospective, Randomized, Double-Masked, Vehicle Controlled, Phase 2 Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution in Subjects With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
44 Phase II Study of Antineoplastons A10 and AS2-1 Infusions in Children With Visual Pathway Glioma Completed NCT00003477 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
45 Safety and Effects of Brimonidine Intravitreal Implant in Patients With Glaucomatous Optic Neuropathy Completed NCT00693485 Phase 2 400 ug Brimonidine Implant;200 ug Brimonidine Implant;Sham (no implant)
46 Phase II Safety Assessment of Intravitreal Injection of Mesenchymal Stem Cells for Acute Non Arteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03173638 Phase 2
47 Treatment of Optic Neuropathies Using Autologous Bone-Marrow Derived Clusters of Differentiation (CD) 34+, 133+, and 271+ Stem Cells: A Pilot Study Recruiting NCT02638714 Phase 1, Phase 2
48 A Phase 2, Randomized, DB-PC, Parallel Group Study for the Treatment of Visual Pathway Deficits In Chronic Optic Neuropathy to Assess the Efficacy, Safety, Tolerability and Pharmacokinetics of CNM-Au8 For Remyelination In Multiple Sclerosis Recruiting NCT03536559 Phase 2 CNM-Au8;Placebo
49 A Pilot Study of Using MRI-Guided Laser Heat Ablation to Induce Disruption of the Peritumoral Blood Brain Barrier to Enhance Delivery and Efficacy of Treatment of Pediatric Brain Tumors Recruiting NCT02372409 Phase 2 Doxorubicin;Etoposide
50 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Recruiting NCT02839720 Phase 2 Selumetinib;Selumetinib Sulfate

Search NIH Clinical Center for Optic Nerve Disease

Genetic Tests for Optic Nerve Disease

Anatomical Context for Optic Nerve Disease

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, Retina, Brain, Pituitary, Bone Marrow, Bone

Publications for Optic Nerve Disease

Articles related to Optic Nerve Disease:

(show top 50) (show all 9668)
# Title Authors PMID Year
1
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 6 61
28027978 2017
2
Prevalence and associated factors of glaucoma in the Russian Ural Eye and Medical Study. 61 42
33219250 2020
3
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
4
Etiology of Optic Disc Swelling in a Tertiary Care Center in Nigeria. 42
33355822 2020
5
MEF2 transcription factors differentially contribute to retinal ganglion cell loss after optic nerve injury. 42
33315889 2020
6
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. 61 54
20157369 2010
7
Nonarteritic ischaemic optic neuropathy (NAION) after 36 h of intake of sildenafil citrate: first Egyptian case. 61 54
19737280 2009
8
Phosphodiesterase inhibitors and the eye. 54 61
19624350 2009
9
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 61 54
19325939 2009
10
Nonarteritic anterior ischemic optic neuropathy with PDE-5 inhibitors for erectile dysfunction. 54 61
18528398 2008
11
Role of the ETB receptor in retinal ganglion cell death in glaucoma. 61 54
18516102 2008
12
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 54 61
18158317 2008
13
Current safety and tolerability issues in men with erectile dysfunction receiving PDE5 inhibitors. 61 54
17655683 2007
14
Endothelin-1, endothelin A and B receptor expression and their pharmacological properties in GFAP negative human lamina cribrosa cells. 61 54
17433294 2007
15
The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. 61 54
17197509 2007
16
Mitochondrial abnormalities in patients with LHON-like optic neuropathies. 61 54
17003408 2006
17
Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. 54 61
16569640 2006
18
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. 54 61
16081055 2005
19
Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. 61 54
15728653 2005
20
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. 61 54
15781809 2005
21
Chronic ischemia induces regional axonal damage in experimental primate optic neuropathy. 54 61
15477464 2004
22
[Optic neuropathy in biotinidase deficiency]. 61 54
15306966 2004
23
[Study on the optic neuropathy induced response protein gene mutation in Chinese patients with primary open-angle glaucoma]. 54 61
15312511 2004
24
Optineurin in primary open angle glaucoma. 54 61
14740994 2003
25
Suppression of complex I gene expression induces optic neuropathy. 54 61
12557286 2003
26
Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. 61 54
12379221 2002
27
Mutation spectrum and splicing variants in the OPA1 gene. 61 54
11810270 2001
28
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 61 54
11133798 2001
29
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 54 61
11017079 2000
30
Physiology of perfusion as it relates to the optic nerve head. 54 61
10416744 1999
31
Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. 61 54
9878213 1998
32
Association study of the 5' flanking regions of endothelial-nitric oxide synthase and endothelin-1 genes in familial primary open-angle glaucoma. 54 61
9493554 1998
33
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 54 61
9433860 1997
34
The preventive effect of aldose reductase inhibition on diabetic optic neuropathy in the BB/W-rat. 54 61
8243866 1993
35
[Juvenile optic neuropathy caused by Km variants of biotinidase]. 61 54
1315891 1992
36
A biotinidase Km variant causing late onset bilateral optic neuropathy. 54 61
1739323 1992
37
MicroRNA-based therapeutics for optic neuropathy: opportunities and challenges. 61
33642375 2021
38
Tacrolimus induced optic neuropathy in post-lung transplant patients: A series of 3 patients. 61
33778180 2021
39
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients. 61
33717984 2021
40
Latanoprost-loaded phytantriol cubosomes for the treatment of glaucoma. 61
33567324 2021
41
Metabolic syndrome and the aging retina. 61
33630786 2021
42
Leber's hereditary optic neuropathy: course of disease in consideration of idebenone treatment and type of mutation. 61
33337510 2021
43
Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus. 61
32918965 2021
44
Orbital decompressive effect of endoscopic transorbital surgery for sphenoorbital meningioma. 61
33226438 2021
45
Compressive optic neuropathy. Not everything that progresses is glaucoma. 61
32605796 2021
46
Optic Neuropathy with Headache and Palpable Temporal Arteries Due to Hypertrophic Pachymeningitis Rather than Giant Cell Arteritis. 61
33793376 2021
47
Thyrotropin receptor antibodies and Graves' orbitopathy. 61
32749654 2021
48
Giant cell arteritis with ocular involvement successfully treated with tocilizumab and very short-course glucocorticoids: A case report. 61
33712335 2021
49
Nerve Growth Factor Protects Retinal Ganglion Cells Related to Inhibiting Endoplasmic Reticulum Stress by Inhibiting IRE1-JNK-CHOP Signaling Pathway. 61
33793349 2021
50
Reactive Fibroblasts in Response to Optic Nerve Crush Injury. 61
33184784 2021

Variations for Optic Nerve Disease

ClinVar genetic disease variations for Optic Nerve Disease:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXG1 NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) SNV Pathogenic 453289 rs267606826 GRCh37: 14:29237109-29237109
GRCh38: 14:28767903-28767903
2 KARS1 NM_005548.2(KARS1):c.599C>T (p.Pro200Leu) SNV Pathogenic 224983 rs201650281 GRCh37: 16:75669880-75669880
GRCh38: 16:75635982-75635982
3 KARS1 NM_001130089.1(KARS1):c.871T>G (p.Phe291Val) SNV Pathogenic 562001 rs772410450 GRCh37: 16:75669586-75669586
GRCh38: 16:75635688-75635688
4 MT-ND1 m.3700G>A SNV Pathogenic 65519 rs397515508 GRCh37: MT:3700-3700
GRCh38: MT:3700-3700
5 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg) SNV Pathogenic 3781 rs28940877 GRCh37: 11:88911386-88911386
GRCh38: 11:89178218-89178218
6 LIPT1 , MITD1 NM_145199.3(LIPT1):c.369del (p.Lys123fs) Deletion Likely pathogenic 420362 rs552120721 GRCh37: 2:99778789-99778789
GRCh38: 2:99162326-99162326
7 MT-ATP8 NC_012920.1:m.8418T>C SNV Likely pathogenic 370050 rs1057516062 GRCh37: MT:8418-8418
GRCh38: MT:8418-8418
8 MT-ATP6 NC_012920.1:m.9166T>C SNV Likely pathogenic 370051 rs1057516063 GRCh37: MT:9166-9166
GRCh38: MT:9166-9166
9 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) SNV Likely pathogenic 523363 rs376823382 GRCh37: 11:89018108-89018108
GRCh38: 11:89284940-89284940
10 MT-ND4 NC_012920.1:m.11443A>C SNV Uncertain significance 523305 rs1556423952 GRCh37: MT:11443-11443
GRCh38: MT:11443-11443
11 GLI2 NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala) SNV Likely benign 373963 rs1057518803 GRCh37: 2:121685042-121685042
GRCh38: 2:120927466-120927466
12 CHD2 NM_001271.4(CHD2):c.949A>G (p.Ile317Val) SNV Likely benign 373964 rs750380444 GRCh37: 15:93486195-93486195
GRCh38: 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
13.65 TYR PDE5A NDUFA1 MT-ND6 MT-ND4 MT-ND1
2
Show member pathways
12.68 OPTN NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8
3
Show member pathways
11.97 NDUFA1 MT-ND6 MT-ND4 MT-ND1
4
Show member pathways
11.82 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6

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 9.85 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
2 respiratory chain GO:0070469 9.56 NDUFA1 MT-ND6 MT-ND4 MT-ND1
3 mitochondrial respiratory chain complex I GO:0005747 9.5 NDUFA1 MT-ND4 MT-ND1
4 mitochondrial membrane GO:0031966 9.43 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP8 MT-ATP6
6 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP8 MT-ATP6
7 mitochondrial inner membrane GO:0005743 9.23 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1

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

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.62 OPA1 MT-ND4 MT-ATP6 FOXG1
2 ATP synthesis coupled proton transport GO:0015986 9.43 MT-ATP8 MT-ATP6
3 dorsal/ventral pattern formation GO:0009953 9.43 PAX6 FOXG1 EDN1
4 positive regulation of neuroblast proliferation GO:0002052 9.4 PAX6 FOXG1
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.37 MT-ATP8 MT-ATP6
6 response to nicotine GO:0035094 9.33 MT-ND6 MT-ND4 EDN1
7 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 NDUFA1 MT-ND6 MT-ND4 MT-ND1
8 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 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.16 MT-ATP8 MT-ATP6
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 for Optic Nerve Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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