Optic Nerve Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: OPT006 MIFTS: 56	Optic Nerve Disease Categories: Eye diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of optic nerve and visual pathways

Other disorders of optic [2nd] nerve and visual pathways

Disorders of optic nerve, not elsewhere classified

ICD11: ³³

Diseases of the visual system

Disorders of the visual pathways or centres

Disorder of the optic nerve

Disorder of the optic nerve, unspecified

Other specified disorder of the optic nerve

External Ids:

Disease Ontology ¹¹ DOID:1891

MeSH ⁴³ D009901

NCIt ⁴⁹ C79698

SNOMED-CT ⁶⁸ 77157004

ICD10 ³¹ H47.0

ICD11 ³³ 1411910384/other 1411910384/unspecified

UMLS ⁷¹ C0029132 C3887709

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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...

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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:

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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

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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

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Carbidopa

Approved

Phase 4

28860-95-9

34359 38101

Levodopa

Approved

Phase 4

59-92-7, 63-84-3

6047

Dalfampridine

Approved

Phase 4

504-24-5

1727

Sildenafil

Approved, Investigational

Phase 4

139755-83-2, 171599-83-0

5212 135398744

Tadalafil

Approved, Investigational

Phase 4

171596-29-5

110635

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Neurotransmitter Agents

Phase 4

Adrenergic Agents

Phase 4

Antihypertensive Agents

Phase 4

Pharmaceutical Solutions

Phase 4

Methylprednisolone Acetate

Phase 4

584547

Antineoplastic Agents, Hormonal

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

glucocorticoids

Phase 4

Anti-Inflammatory Agents

Phase 4

Carbidopa, levodopa drug combination

Phase 4

Adjuvants, Immunologic

Phase 4

Dopamine agonists

Phase 4

Antiparkinson Agents

Phase 4

Aromatic Amino Acid Decarboxylase Inhibitors

Phase 4

Immunologic Factors

Phase 4

Potassium Channel Blockers

Phase 4

Ophthalmic Solutions

Phase 4

Brimonidine Tartrate

Phase 4

70359-46-5

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Ginkgo

Phase 4

Phosphodiesterase 5 Inhibitors

Phase 4

Vardenafil Dihydrochloride

Phase 4

Curcumin

Approved, Investigational

Phase 3

458-37-7, 84765-67-3

969516

Bosentan

Approved, Investigational

Phase 3

147536-97-8

104865

Bezafibrate

Approved, Investigational

Phase 2, Phase 3

41859-67-0

39042

Nalbuphine

Approved

Phase 3

20594-83-6

5311304

Midazolam

Approved, Illicit

Phase 3

59467-70-8

4192

Magnesium sulfate

Approved, Investigational, Vet_approved

Phase 3

7487-88-9

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 3

86347-14-0, 113775-47-6

68602 5311068

Linezolid

Approved, Investigational

Phase 3

165800-03-3

441401

Acetazolamide

Approved, Vet_approved

Phase 3

59-66-5, 1424-27-7

1986

Immunosuppressive Agents

Phase 3

Epoetin Alfa

Phase 3

Hematinics

Phase 3

Antirheumatic Agents

Phase 3

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

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Genetic Tests for Optic Nerve Disease

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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

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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	Bacalhau M...Grazina M	28027978	2017
2	Glaucoma - a neurodegenerative disease with cerebral neuroconnectivity elements. ⁶² ⁴¹	Neac?u AM...Ferechide D	36349168	2022
3	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
4	Relative Contributions of Intraocular and Cerebrospinal Fluid Pressures to the Biomechanics of the Lamina Cribrosa and Laminar Neural Tissues. ⁴¹	Karimi A...Downs JC	36255364	2022
5	Elk-1 regulates retinal ganglion cell axon regeneration after injury. ⁴¹	Noro T...Goldberg JL	36261683	2022
6	Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. ⁵³ ⁶²	Gallus GN...Federico A	20157369	2010
7	Nonarteritic ischaemic optic neuropathy (NAION) after 36 h of intake of sildenafil citrate: first Egyptian case. ⁵³ ⁶²	El-Domyati MM...Morad KE	19737280	2009
8	Phosphodiesterase inhibitors and the eye. ⁵³ ⁶²	Kerr NM...Danesh-Meyer HV	19624350	2009
9	Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. ⁵³ ⁶²	Nochez Y...Reynier P	19325939	2009
10	Nonarteritic anterior ischemic optic neuropathy with PDE-5 inhibitors for erectile dysfunction. ⁵³ ⁶²	Thurtell MJ...Tomsak RL	18528398	2008
11	Role of the ETB receptor in retinal ganglion cell death in glaucoma. ⁵³ ⁶²	Krishnamoorthy RR...Yorio T	18516102	2008
12	OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. ⁵³ ⁶²	Amati-Bonneau P...Carelli V	18158317	2008
13	Current safety and tolerability issues in men with erectile dysfunction receiving PDE5 inhibitors. ⁵³ ⁶²	Hellstrom WJ	17655683	2007
14	Endothelin-1, endothelin A and B receptor expression and their pharmacological properties in GFAP negative human lamina cribrosa cells. ⁵³ ⁶²	Rao VR...Yorio T	17433294	2007
15	The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. ⁵³ ⁶²	Qi X...Guy J	17197509	2007
16	Mitochondrial abnormalities in patients with LHON-like optic neuropathies. ⁵³ ⁶²	Abu-Amero KK...Bosley TM	17003408	2006
17	Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. ⁵³ ⁶²	De Marco N...Diez-Roux G	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	Hashimoto K...Hernandez MR	16081055	2005
19	Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. ⁵³ ⁶²	Danielson SR...Cortopassi GA	15728653	2005
20	Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. ⁵³ ⁶²	Kim JY...Park SS	15781809	2005
21	Chronic ischemia induces regional axonal damage in experimental primate optic neuropathy. ⁵³ ⁶²	Cioffi GA...Van Buskirk EM	15477464	2004
22	[Optic neuropathy in biotinidase deficiency]. ⁵³ ⁶²	Puertas Bordallo D...Valls Ferran MI	15306966	2004
23	[Study on the optic neuropathy induced response protein gene mutation in Chinese patients with primary open-angle glaucoma]. ⁵³ ⁶²	Chen JH...Li Y	15312511	2004
24	Optineurin in primary open angle glaucoma. ⁵³ ⁶²	Sarfarazi M...Rezaie T	14740994	2003
25	Suppression of complex I gene expression induces optic neuropathy. ⁵³ ⁶²	Qi X...Guy J	12557286	2003
26	Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. ⁵³ ⁶²	Vittitow J...Borras T	12379221	2002
27	Mutation spectrum and splicing variants in the OPA1 gene. ⁵³ ⁶²	Delettre C...Hamel CP	11810270	2001
28	The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. ⁵³ ⁶²	Chinnery PF...Howell N	11133798	2001
29	Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. ⁵³ ⁶²	Delettre C...Hamel CP	11017079	2000
30	Physiology of perfusion as it relates to the optic nerve head. ⁵³ ⁶²	Orgul S...Flammer J	10416744	1999
31	Elastosis of the lamina cribrosa in glaucomatous optic neuropathy. ⁵³ ⁶²	Pena JD...Hernandez MR	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	Tunny TJ...Clark CV	9493554	1998
33	Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. ⁵³ ⁶²	Rahman S...Pike MG	9433860	1997
34	The preventive effect of aldose reductase inhibition on diabetic optic neuropathy in the BB/W-rat. ⁵³ ⁶²	Kamijo M...Sima AA	8243866	1993
35	[Juvenile optic neuropathy caused by Km variants of biotinidase]. ⁵³ ⁶²	Brab M...Reim M	1315891	1992
36	A biotinidase Km variant causing late onset bilateral optic neuropathy. ⁵³ ⁶²	Ramaekers VT...Baumgartner ER	1739323	1992
37	Nonarteritic Anterior Ischemic Optic Neuropathy: Cystic Change in the Inner Nuclear Layer Caused by Edema and Retrograde Maculopathy. ⁶²	Chapelle AC...Plant GT	36439696	2023
38	Temporal Alterations of Sphingolipids in Optic Nerves After Indirect Traumatic Optic Neuropathy. ⁶²	Chauhan MZ...Bhattacharya SK	36275202	2023
39	Establishment of a minimally invasive distal traumatic optic neuropathy model in mice to investigate cascade reactions of retinal glial cells. ⁶²	Shen B...Zhong Y	36468758	2023
40	Analyses and Localization of Serotonin and L-DOPA in Ocular Tissues by Imaging Mass Spectrometry. ⁶²	Krishnan V...Bhattacharya SK	36152160	2023
41	Regulatory mechanisms of retinal ganglion cell death in normal tension glaucoma and potential therapies. ⁶²	Shen WC...Yang J	35799514	2023
42	Myelin oligodendrocyte glycoprotein antibody-associated optic neuritis: an update. ⁶²	Messias K...Messias A	35170658	2023
43	Posterior segment spectral domain oct in the differential diagnosis of bilateral temporal optic neuropathy and its correlation with visual acuity. ⁶²	Buelens T...Willermain F	35809163	2022
44	Optic Disc Drusen in Patients With Ocular Hypertension: A Case Series and Review of the Literature. ⁶²	Kohli D...Roddy GW	35916300	2022
45	Usefulness of critical flicker fusion frequency measurement and its laterality for evaluating compressive optic neuropathy due to pituitary neuroendocrine tumors. ⁶²	Taguchi A...Horie N	36471083	2022
46	The ICD-10 Glaucoma Severity Score Underestimates the Extent of Glaucomatous Optic Nerve Damage. ⁶²	Leshno A...Hood DC	35998682	2022
47	Commentary: Dysthyroid optic neuropathy: A lurking danger in thyroid eye disease. ⁶²	Singh M...Gupta P	36453359	2022
48	Chromatic visual evoked potentials identify optic nerve dysfunction in patients with Graves' orbitopathy. ⁶²	Yu Y...Jiang F	35635597	2022
49	Orbital abscess: 20 years' experience at a tertiary eye care center. ⁶²	Alam MS...Mukherjee B	35195044	2022
50	Ankle-brachial index and ocular diseases in a Russian population. ⁶²	Bikbov MM...Jonas JB	34845354	2022

Sources

Genes for Optic Nerve Disease

Genes related to Optic Nerve Disease (4 elite genes):

(show top 50) (show all 116)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TYR	Tyrosinase	Protein Coding	428.8	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
2	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	415.88	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
3	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	404.57	Pathogenic ⁵ DISEASES inferred ¹⁴
4	FOXG1	Forkhead Box G1	Protein Coding	403.75	Pathogenic ⁵ DISEASES inferred ¹⁴	32581362
5	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	32.18	Likely pathogenic ⁵ DISEASES inferred ¹⁴	28027978
6	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	31.08	Likely pathogenic ⁵ DISEASES inferred ¹⁴	28027978
7	LIPT1	Lipoyltransferase 1	Protein Coding	28.34	Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	MITD1	Microtubule Interacting And Trafficking Domain Containing 1	Protein Coding	25	Likely pathogenic ⁵
9	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	18.76	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19325939 11017079 20157369 (more) 18158317 17003408 15781809 11810270 19389487
10	MYOC	Myocilin	Protein Coding	16.41	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	14740994
11	OPTN	Optineurin	Protein Coding	15.86	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12379221 16569640 14740994 (more) 15312511
12	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	15.79	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17197509
13	NDUFA1	NADH:Ubiquinone Oxidoreductase Subunit A1	Protein Coding	15.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12557286
14	MT-ND6	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6	Protein Coding	14.48	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11133798
15	PDE5A	Phosphodiesterase 5A	Protein Coding	12.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17655683 18528398 19737280 (more) 19624350
16	BTD	Biotinidase	Protein Coding	12.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15306966 1739323 1315891 (more) 9433860
17	AQP4	Aquaporin 4	Protein Coding	10.2	DISEASES inferred ¹⁴
18	EDN1	Endothelin 1	Protein Coding	10.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15477464 10416744 17433294 (more) 9493554 18516102
19	MOG	Myelin Oligodendrocyte Glycoprotein	Protein Coding	9.45	DISEASES inferred ¹⁴
20	CRYAA	Crystallin Alpha A	Protein Coding	9.11	DISEASES inferred ¹⁴ ¹⁴
21	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	9	DISEASES inferred ¹⁴ ¹⁴
22	ELN	Elastin	Protein Coding	8.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9878213
23	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	8.22	DISEASES inferred ¹⁴
24	MFN2	Mitofusin 2	Protein Coding	8.16	DISEASES inferred ¹⁴
25	MFN1	Mitofusin 1	Protein Coding	8	DISEASES inferred ¹⁴
26	OPA3	Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3	Protein Coding	7.84	DISEASES inferred ¹⁴
27	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	7.81	DISEASES inferred ¹⁴ ¹⁴
28	DNM1L	Dynamin 1 Like	Protein Coding	7.79	DISEASES inferred ¹⁴
29	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	7.72	DISEASES inferred ¹⁴ ¹⁴
30	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	7.69	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16081055
31	MBP	Myelin Basic Protein	Protein Coding	7.62	DISEASES inferred ¹⁴
32	FIS1	Fission, Mitochondrial 1	Protein Coding	7.49	DISEASES inferred ¹⁴
33	POU4F1	POU Class 4 Homeobox 1	Protein Coding	7.42	DISEASES inferred ¹⁴
34	IFNB1	Interferon Beta 1	Protein Coding	7.4	DISEASES inferred ¹⁴
35	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	7.2	DISEASES inferred ¹⁴
36	ATP1A3	ATPase Na+/K+ Transporting Subunit Alpha 3	Protein Coding	7.19	DISEASES inferred ¹⁴
37	MFF	Mitochondrial Fission Factor	Protein Coding	7.14	DISEASES inferred ¹⁴
38	DPYSL5	Dihydropyrimidinase Like 5	Protein Coding	7	DISEASES inferred ¹⁴
39	OPN4	Opsin 4	Protein Coding	7	DISEASES inferred ¹⁴
40	EDNRB	Endothelin Receptor Type B	Protein Coding	6.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17433294
41	IL6	Interleukin 6	Protein Coding	6.97	DISEASES inferred ¹⁴
42	TMEM126A	Transmembrane Protein 126A	Protein Coding	6.96	DISEASES inferred ¹⁴
43	NEFL	Neurofilament Light Chain	Protein Coding	6.95	DISEASES inferred ¹⁴
44	SERPINA3	Serpin Family A Member 3	Protein Coding	6.94	DISEASES inferred ¹⁴ ¹⁴
45	CCNDBP1	Cyclin D1 Binding Protein 1	Protein Coding	6.93	DISEASES inferred ¹⁴
46	CD4	CD4 Molecule	Protein Coding	6.9	DISEASES inferred ¹⁴
47	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	6.85	DISEASES inferred ¹⁴ ¹⁴
48	RBPMS	RNA Binding Protein, MRNA Processing Factor	Protein Coding	6.85	DISEASES inferred ¹⁴
49	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	6.84	DISEASES inferred ¹⁴
50	CRP	C-Reactive Protein	Protein Coding	6.83	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Optic Nerve Disease

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

Sources

Pathways for Optic Nerve Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.31	TYR NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Electron transport chain: OXPHOS system in mitochondria ⁷⁴ Mitochondrial Uncoupling ⁶⁶ Oleoyl-phe metabolism ⁶⁶ Oxidative phosphorylation ⁷⁴ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶	12.19	NDUFA1 MT-ND6 MT-ND4 MT-ND1 MT-ATP8 MT-ATP6
3	Complex I biogenesis ⁶⁶ Show member pathways Mitochondrial complex I assembly model OXPHOS system ⁷⁴	10.97	NDUFA1 MT-ND6 MT-ND4 MT-ND1

Sources

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