MCID: OPT006
MIFTS: 56

Optic Nerve Disease

Categories: Eye diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Optic Nerve Disease

MalaCards integrated aliases for Optic Nerve Disease:

Name: Optic Nerve Disease 11 14
Optic Neuropathy 11 53 5 14 71
Abnormality of the Optic Nerve 5
Disorder of the Second Nerve 11
Disorder of the Optic Nerve 71
Optic Nerve Disorders 41
Optic Nerve Disorder 11
Neuropathy, Optic 38
Optic Nerve 75

Classifications:



External Ids:

Disease Ontology 11 DOID:1891
MeSH 43 D009901
NCIt 49 C79698
SNOMED-CT 68 77157004
ICD10 31 H47.0
UMLS 71 C0029132 C3887709

Summaries for Optic Nerve Disease

MedlinePlus: 41 The optic nerve is a bundle of more than 1 million nerve fibers that carry visual messages. You have one connecting the back of each eye (your retina) to your brain. Damage to an optic nerve can cause vision loss. The type of vision loss and how severe it is depends on where the damage occurs. It may affect one or both eyes. There are many different types of optic nerve disorders, including: Glaucoma is a group of diseases that are the leading cause of blindness in the United States. Glaucoma usually happens when the fluid pressure inside the eyes slowly rises and damages the optic nerve. Optic neuritis is an inflammation of the optic nerve. Causes include infections and immune-related illnesses such as multiple sclerosis. Sometimes the cause is unknown. Optic nerve atrophy is damage to the optic nerve. Causes include poor blood flow to the eye, disease, trauma, or exposure to toxic substances. Optic nerve head drusen are pockets of protein and calcium salts that build up in the optic nerve over time Contact your health care provider if you are having vision problems. Tests for optic nerve disorders may include eye exams, ophthalmoscopy (an examination of the back of your eye), and imaging tests. Treatment depends on which disorder that you have. With some optic nerve disorders, you may get your vision back. With others, there is no treatment, or treatment may only prevent further vision loss.

MalaCards based summary: Optic Nerve Disease, also known as optic neuropathy, is related to leber optic atrophy and dystonia and toxic optic neuropathy, 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include optic nerve, eye and retina, and related phenotype is vision/eye.

Disease Ontology: 11 A cranial nerve disease that is located in the optic nerve.

Wikipedia: 75 In neuroanatomy, the optic nerve, also known as the second cranial nerve, cranial nerve II, or simply CN... 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 1891)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 33.3 MT-ND6 MT-ND4 MT-ND1
2 toxic optic neuropathy 33.0 MT-ND6 MT-ND4 AQP4
3 mitochondrial complex i deficiency, nuclear type 1 32.9 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8
4 leber plus disease 32.8 MYOC MT-ND6 MT-ND4 MT-ND1 MT-ATP6 CRYAA
5 nutritional optic neuropathy 32.8 MT-ND6 MT-ND4
6 3-methylglutaconic aciduria, type iii 32.5 OPA1 MYOC MT-ND6 MT-ND4 MT-ND1 MT-ATP6
7 optic neuritis 32.5 MT-ND6 MT-ND4 MOG EDN1 AQP4
8 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.4 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
9 mitochondrial complex i deficiency, nuclear type 16 32.3 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
10 optic atrophy 7 with or without auditory neuropathy 32.3 OPA1 MT-ND6 MT-ND4
11 juvenile glaucoma 32.3 OPTN MYOC CRYAA
12 steroid-induced glaucoma 32.2 OPTN MYOC CRYAA
13 phacogenic glaucoma 32.2 OPTN MYOC CRYAA
14 chronic closed-angle glaucoma 32.2 MYOC CRYAA
15 mitochondrial disease 32.1 OPA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
16 open-angle glaucoma 31.9 OPTN OPA1 MYOC CRYAA
17 glaucoma, primary open angle 31.9 OPTN MYOC EDN1 CRYAA
18 glaucoma, normal tension 31.7 OPTN OPA1 MYOC EDN1 CRYAA
19 kearns-sayre syndrome 31.6 OPA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
20 central retinal artery occlusion 31.6 EDN1 CRYAA
21 leigh syndrome 31.4 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8
22 primary angle-closure glaucoma 31.4 OPTN MYOC CRYAA
23 strabismus 31.3 TYR MOG FOXG1 CRYAA AQP4
24 lactic acidosis 31.3 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6 LIPT1
25 multiple sclerosis 31.3 MT-ND1 MT-ATP8 MT-ATP6 MOG AQP4
26 retinitis pigmentosa 31.3 TYR OPTN MYOC MT-ND6 MT-ND4 MT-ND1
27 nervous system disease 31.2 TYR OPTN OPA1 MYOC MOG FOXG1
28 neurosarcoidosis 31.1 MOG AQP4
29 mitochondrial encephalomyopathy 31.1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
30 hereditary optic neuropathy 31.1 MT-ND6 MT-ND4 MT-ATP6
31 neuroretinitis 31.1 MOG AQP4
32 abducens palsy 31.1 MOG AQP4
33 leber hereditary optic neuropathy, modifier of 31.1 OPTN OPA1 NDUFA1 MYOC MT-ND6 MT-ND4
34 chronic progressive external ophthalmoplegia 31.0 OPA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
35 acute retrobulbar neuritis 31.0 MT-ND4 MOG AQP4
36 optic atrophy 3, autosomal dominant 31.0 OPA1 CRYAA
37 intracranial hypertension, idiopathic 31.0 MOG AQP4
38 acute closed-angle glaucoma 31.0 OPTN MYOC
39 mitochondrial myopathy 30.9 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8
40 hypotonia 30.9 MITD1 LIPT1 KARS1 FOXG1 BTD
41 intraocular pressure quantitative trait locus 30.9 OPTN OPA1 MYOC EDN1 CRYAA AQP4
42 cortical blindness 30.8 MT-ND6 MT-ND4 MT-ND1
43 optic papillitis 30.8 MOG AQP4
44 cranial nerve palsy 30.8 MOG AQP4
45 miller fisher syndrome 30.8 MOG AQP4
46 myoclonic epilepsy associated with ragged-red fibers 30.8 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
47 keratitis, hereditary 30.8 OPTN MYOC CRYAA
48 early myoclonic encephalopathy 30.7 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
49 fundus dystrophy 30.7 TYR OPA1 MYOC MT-ND4 CRYAA
50 hypertrophic cardiomyopathy 30.7 OPA1 MT-ND1 MT-ATP8 MT-ATP6 EDN1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 AQP4 BTD CRYAA FOXG1 LIPT1 MOG

Drugs & Therapeutics for Optic Nerve Disease

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

(show top 50) (show all 209)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
7
Carbidopa Approved Phase 4 28860-95-9 34359 38101
8
Levodopa Approved Phase 4 59-92-7, 63-84-3 6047
9
Dalfampridine Approved Phase 4 504-24-5 1727
10
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
11
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
12
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
13 Neurotransmitter Agents Phase 4
14 Adrenergic Agents Phase 4
15 Antihypertensive Agents Phase 4
16 Pharmaceutical Solutions Phase 4
17
Methylprednisolone Acetate Phase 4 584547
18 Antineoplastic Agents, Hormonal Phase 4
19 Hormones Phase 4
20 Hormone Antagonists Phase 4
21 glucocorticoids Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Carbidopa, levodopa drug combination Phase 4
24 Adjuvants, Immunologic Phase 4
25 Dopamine agonists Phase 4
26 Antiparkinson Agents Phase 4
27 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
28 Immunologic Factors Phase 4
29 Potassium Channel Blockers Phase 4
30 Ophthalmic Solutions Phase 4
31
Brimonidine Tartrate Phase 4 70359-46-5
32 Adrenergic alpha-Agonists Phase 4
33 Adrenergic Agonists Phase 4
34
Ginkgo Phase 4
35 Phosphodiesterase 5 Inhibitors Phase 4
36 Vardenafil Dihydrochloride Phase 4
37
Curcumin Approved, Investigational Phase 3 458-37-7, 84765-67-3 969516
38
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
39
Bezafibrate Approved, Investigational Phase 2, Phase 3 41859-67-0 39042
40
Nalbuphine Approved Phase 3 20594-83-6 5311304
41
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
42
Magnesium sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9
43
Dexmedetomidine Approved, Experimental, Vet_approved Phase 3 86347-14-0, 113775-47-6 68602 5311068
44
Linezolid Approved, Investigational Phase 3 165800-03-3 441401
45
Acetazolamide Approved, Vet_approved Phase 3 59-66-5, 1424-27-7 1986
46 Immunosuppressive Agents Phase 3
47
Epoetin Alfa Phase 3
48 Hematinics Phase 3
49 Antirheumatic Agents Phase 3
50 Anti-Inflammatory Agents, Non-Steroidal Phase 3

Interventional clinical trials:

(show top 50) (show all 320)
# Name Status NCT ID Phase Drugs
1 Sevoflurane Versus Propofol on Optic Nerve Sheath Diameter During Anesthesia in Steep Trendelenburg Position Unknown status NCT04289090 Phase 4 Sevoflurane Inhalant Product;Propofol 10 MG/ML
2 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
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 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
5 Effect of Levodopa-Carbidopa on Visual Function in Patients With Recent-Onset Nonarteritic Anterior Ischemic Optic Neuropathy Completed NCT00432393 Phase 4 levodopa-carbidopa
6 Dalfampridine Treatment for Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT01975324 Phase 4 dalfampridine;Placebo
7 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) Completed NCT02774005 Phase 4 Idebenone
8 Use of Bevacizumab in Trabeculectomy Surgery. A Prospective, 2 Centre, Randomized, Controlled Trial Completed NCT01166594 Phase 4 Bevacizumab;Control
9 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
10 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
11 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
12 The Effect of Topical Brimonidine on the Hemodynamics of the Optic Nerve Head and Retinochoroidal Circulation in Patients of Primary Open Angle Glaucoma Using Optical Coherence Tomography Angiography Completed NCT05474716 Phase 4 Brimonidine tartrate 0.2% ophthalmic solution
13 To Evaluate the Effect of Ginkgo Biloba Extract on Optic Nerve Head Perfusion Not yet recruiting NCT04846179 Phase 4
14 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
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 Retrobulbar Triamcinolone Acetonide Injection in the Treatment of Nonarteritic Anterior Ischemic Optic Neuropathy Unknown status NCT02329288 Phase 3 Triamcinolone Acetonide;placebo
17 Erythropoietin in Methanol Associated Optic Neuropathy Unknown status NCT02376881 Phase 3 Erythropoietin
18 The Role of Optic Nerve Sheath Fenestration in Leukemic Patients Having Increased Intracranial Pressure Unknown status NCT04431882 Phase 2, Phase 3
19 Ischemic Optic Neuropathy Decompression Trial (IONDT) Completed NCT00000127 Phase 3
20 Bioretina Inc Ankara University Technopolis Completed NCT04877067 Phase 3
21 Traumatic Optic Neuropathy Treatment Trial 2; Efficacy of Different Doses of Erythropoietin. A Multicenter, Double Blind RCT Completed NCT03308448 Phase 3 Recombinant human erythropoietin
22 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials (RESTORE) Completed NCT03406104 Phase 3
23 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
24 Effect of Bosentan in Patients With Non Arteritic Ischemic Optic Neuropathy Recruiting NCT02377271 Phase 3 bosentan;placebo
25 A Phase 1/2/3, Multi-center, Two-part Clinical Trial to Evaluate the Safety and Efficacy of Gene Therapy for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation Recruiting NCT04912843 Phase 2, Phase 3 NR082 injection
26 Study of Efficacy of Befizal® 200 mg for the Treatment of Leber Hereditary Optic Neuropathy Recruiting NCT04561466 Phase 2, Phase 3 Béfizal
27 Optic Nerve Sheath Diameter (ONSD): A New Modality to Assess Postoperative Agitation After a Single Bolus of Dexmedetomidine Versus Nalbuphine in Children With Cleft Palate Repair Recruiting NCT04928391 Phase 3 Dexmedetomidine;Nalbuphine
28 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
29 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
30 Sedation of Ventilated Traumatic Brain Injury Patients With Midazolam Alone Versus Combination With Dexmedetomidine or Magnesium Sulfate; Monitored by Ultrasonograghic Optic Nerve Sheath Diameter Not yet recruiting NCT05340803 Phase 3 midazolam;dexmedetomidine;magnesium sulfate
31 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
32 Prospective Study Of Ophthalmologic Function In Patients Receiving Linezolid For Six Weeks Or Greater Terminated NCT00359632 Phase 3 Zyvox - linezolid;Matched control
33 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
34 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
35 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
36 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
37 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)
38 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
39 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
40 Treatment of Optic Neuropathies Using Autologous Bone-Marrow Derived Clusters of Differentiation (CD) 34+, 133+, and 271+ Stem Cells: A Pilot Study Unknown status NCT02638714 Phase 1, Phase 2
41 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
42 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
43 Treatment of Patients With Optic Nerve Damage Patients Using Electrostimulation: a Home Stimulation Study Unknown status NCT04010994 Phase 1, Phase 2
44 A Preliminary Double Blind Clinical Study, Efficacy Study of RPh201 Treatment of Ischemic Optic Neuropathy (ION). Completed NCT02045212 Phase 2 RPh201;Placebo
45 Neurotomy of Optic Nerve in Non-Arthritic Anterior Ischemic Optic Neuropathy Completed NCT00372021 Phase 1, Phase 2
46 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
47 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
48 A Prospective, Randomized, Double-Masked, Vehicle Controlled, Phase 2 Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide 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
49 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
50 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

Search NIH Clinical Center for Optic Nerve Disease

Genetic Tests for Optic Nerve Disease

Anatomical Context for Optic Nerve Disease

Organs/tissues related to Optic Nerve Disease:

FMA: Optic Nerve
MalaCards : Eye, Retina, Bone Marrow, Brain, Thyroid, Lung, Bone

Publications for Optic Nerve Disease

Articles related to Optic Nerve Disease:

(show top 50) (show all 10924)
# Title Authors PMID Year
1
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 62 5
28027978 2017
2
Glaucoma - a neurodegenerative disease with cerebral neuroconnectivity elements. 62 41
36349168 2022
3
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
4
Relative Contributions of Intraocular and Cerebrospinal Fluid Pressures to the Biomechanics of the Lamina Cribrosa and Laminar Neural Tissues. 41
36255364 2022
5
Elk-1 regulates retinal ganglion cell axon regeneration after injury. 41
36261683 2022
6
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. 53 62
20157369 2010
7
Nonarteritic ischaemic optic neuropathy (NAION) after 36 h of intake of sildenafil citrate: first Egyptian case. 53 62
19737280 2009
8
Phosphodiesterase inhibitors and the eye. 53 62
19624350 2009
9
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 53 62
19325939 2009
10
Nonarteritic anterior ischemic optic neuropathy with PDE-5 inhibitors for erectile dysfunction. 53 62
18528398 2008
11
Role of the ETB receptor in retinal ganglion cell death in glaucoma. 53 62
18516102 2008
12
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 53 62
18158317 2008
13
Current safety and tolerability issues in men with erectile dysfunction receiving PDE5 inhibitors. 53 62
17655683 2007
14
Endothelin-1, endothelin A and B receptor expression and their pharmacological properties in GFAP negative human lamina cribrosa cells. 53 62
17433294 2007
15
The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. 53 62
17197509 2007
16
Mitochondrial abnormalities in patients with LHON-like optic neuropathies. 53 62
17003408 2006
17
Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. 53 62
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. 53 62
16081055 2005
19
Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. 53 62
15728653 2005
20
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. 53 62
15781809 2005
21
Chronic ischemia induces regional axonal damage in experimental primate optic neuropathy. 53 62
15477464 2004
22
[Optic neuropathy in biotinidase deficiency]. 53 62
15306966 2004
23
[Study on the optic neuropathy induced response protein gene mutation in Chinese patients with primary open-angle glaucoma]. 53 62
15312511 2004
24
Optineurin in primary open angle glaucoma. 53 62
14740994 2003
25
Suppression of complex I gene expression induces optic neuropathy. 53 62
12557286 2003
26
Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. 53 62
12379221 2002
27
Mutation spectrum and splicing variants in the OPA1 gene. 53 62
11810270 2001
28
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 53 62
11133798 2001
29
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 53 62
11017079 2000
30
Physiology of perfusion as it relates to the optic nerve head. 53 62
10416744 1999
31
Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. 53 62
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. 53 62
9493554 1998
33
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 53 62
9433860 1997
34
The preventive effect of aldose reductase inhibition on diabetic optic neuropathy in the BB/W-rat. 53 62
8243866 1993
35
[Juvenile optic neuropathy caused by Km variants of biotinidase]. 53 62
1315891 1992
36
A biotinidase Km variant causing late onset bilateral optic neuropathy. 53 62
1739323 1992
37
Nonarteritic Anterior Ischemic Optic Neuropathy: Cystic Change in the Inner Nuclear Layer Caused by Edema and Retrograde Maculopathy. 62
36439696 2023
38
Temporal Alterations of Sphingolipids in Optic Nerves After Indirect Traumatic Optic Neuropathy. 62
36275202 2023
39
Establishment of a minimally invasive distal traumatic optic neuropathy model in mice to investigate cascade reactions of retinal glial cells. 62
36468758 2023
40
Analyses and Localization of Serotonin and L-DOPA in Ocular Tissues by Imaging Mass Spectrometry. 62
36152160 2023
41
Regulatory mechanisms of retinal ganglion cell death in normal tension glaucoma and potential therapies. 62
35799514 2023
42
Myelin oligodendrocyte glycoprotein antibody-associated optic neuritis: an update. 62
35170658 2023
43
Posterior segment spectral domain oct in the differential diagnosis of bilateral temporal optic neuropathy and its correlation with visual acuity. 62
35809163 2022
44
Optic Disc Drusen in Patients With Ocular Hypertension: A Case Series and Review of the Literature. 62
35916300 2022
45
Usefulness of critical flicker fusion frequency measurement and its laterality for evaluating compressive optic neuropathy due to pituitary neuroendocrine tumors. 62
36471083 2022
46
The ICD-10 Glaucoma Severity Score Underestimates the Extent of Glaucomatous Optic Nerve Damage. 62
35998682 2022
47
Commentary: Dysthyroid optic neuropathy: A lurking danger in thyroid eye disease. 62
36453359 2022
48
Chromatic visual evoked potentials identify optic nerve dysfunction in patients with Graves' orbitopathy. 62
35635597 2022
49
Orbital abscess: 20 years' experience at a tertiary eye care center. 62
35195044 2022
50
Ankle-brachial index and ocular diseases in a Russian population. 62
34845354 2022

Variations for Optic Nerve Disease

ClinVar genetic disease variations for Optic Nerve Disease:

5 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KARS1 NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) SNV Pathogenic
224983 rs201650281 GRCh37: 16:75669880-75669880
GRCh38: 16:75635982-75635982
2 FOXG1 NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) SNV Pathogenic
453289 rs267606826 GRCh37: 14:29237109-29237109
GRCh38: 14:28767903-28767903
3 KARS1 NM_005548.3(KARS1):c.787T>G (p.Phe263Val) 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 TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) SNV Likely Pathogenic
523363 rs376823382 GRCh37: 11:89018108-89018108
GRCh38: 11:89284940-89284940
7 LIPT1, MITD1 NM_145199.3(LIPT1):c.369del (p.Lys123fs) DEL Likely Pathogenic
420362 rs552120721 GRCh37: 2:99778789-99778789
GRCh38: 2:99162326-99162326
8 MT-ATP8 NC_012920.1:m.8418T>C SNV Likely Pathogenic
370050 rs1057516062 GRCh37: MT:8418-8418
GRCh38: MT:8418-8418
9 MT-ATP6 NC_012920.1:m.9166T>C SNV Likely Pathogenic
370051 rs1057516063 GRCh37: MT:9166-9166
GRCh38: MT:9166-9166
10 MT-ND4 NC_012920.1:m.11443A>C SNV Uncertain Significance
523305 rs1556423952 GRCh37: MT:11443-11443
GRCh38: MT:11443-11443
11 LYST NM_000081.4(LYST):c.949G>A (p.Glu317Lys) SNV Uncertain Significance
801637 GRCh37: 1:235973169-235973169
GRCh38: 1:235809869-235809869
12 GLI2 NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala) SNV Likely Benign
373963 rs1057518803 GRCh37: 2:121685042-121685042
GRCh38: 2:120927466-120927466
13 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

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 10.2 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
2 mitochondrial respiratory chain complex I GO:0005747 9.86 NDUFA1 MT-ND6 MT-ND4 MT-ND1
3 mitochondrial inner membrane GO:0005743 9.86 OPA1 NDUFA1 MYOC MT-ND6 MT-ND4 MT-ND1
4 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.54 MT-ATP8 MT-ATP6
5 respirasome GO:0070469 9.46 MT-ND1 MT-ND4 MT-ND6 NDUFA1
6 mitochondrial membrane GO:0031966 9.28 OPA1 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8

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

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.86 NDUFA1 MT-ND6 MT-ND4 MT-ND1
2 response to nicotine GO:0035094 9.8 MT-ND6 MT-ND4 EDN1
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.76 MT-ND1 MT-ND4 MT-ND6 NDUFA1
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.56 NDUFA1 MT-ND6 MT-ND4 MT-ND1
5 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.4 NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6

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 9.26 MT-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.23 NDUFA1 MT-ND6 MT-ND4 MT-ND1

Sources for Optic Nerve Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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