POAG
MCID: GLC092
MIFTS: 62

Glaucoma, Primary Open Angle (POAG)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glaucoma, Primary Open Angle

MalaCards integrated aliases for Glaucoma, Primary Open Angle:

Name: Glaucoma, Primary Open Angle 56 73 37 71
Primary Open Angle Glaucoma 12 36 29 54 6 15
Glaucoma 1, Open Angle, E 56 73 29 13 6 71
Poag 56 73
Adult-Onset Primary Open Angle Glaucoma 73
Primary Open Angle Glaucoma 1e 73
Glaucoma, Open Angle, Primary 39
Chronic Simple Glaucoma 12
Glc1e 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
glaucoma, primary open angle:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1070
OMIM 56 137760
KEGG 36 H00612
ICD9CM 34 365.11
MeSH 43 D005902
NCIt 49 C35394
SNOMED-CT 67 77075001
ICD10 32 H40.11
SNOMED-CT via HPO 68 263681008 57190000
UMLS 71 C0339573 C1842026

Summaries for Glaucoma, Primary Open Angle

UniProtKB/Swiss-Prot : 73 Glaucoma 1, open angle, E: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.
Glaucoma, primary open angle: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes.

MalaCards based summary : Glaucoma, Primary Open Angle, also known as primary open angle glaucoma, is related to early-onset glaucoma and glaucoma 1, open angle, a. An important gene associated with Glaucoma, Primary Open Angle is OPTN (Optineurin), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Elastic fibre formation. The drugs Polymyxin B and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include Eye, testes and endothelial, and related phenotypes are myopia and open angle glaucoma

Disease Ontology : 12 An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.

OMIM : 56 Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. (137760)

KEGG : 36 Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients.

Related Diseases for Glaucoma, Primary Open Angle

Diseases in the Open-Angle Glaucoma family:

Glaucoma 1, Open Angle, a Glaucoma, Primary Open Angle
Glaucoma 1, Open Angle, P Glaucoma 1, Primary Open Angle, C
Glaucoma 1, Open Angle, D Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, B Glaucoma 1, Open Angle, J
Glaucoma 1, Open Angle, K Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, G Glaucoma 1, Open Angle, M
Glaucoma 1, Open Angle, N Glaucoma 1, Open Angle, H
Glaucoma 1, Open Angle, O

Diseases related to Glaucoma, Primary Open Angle via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 253)
# Related Disease Score Top Affiliating Genes
1 early-onset glaucoma 33.9 MYOC CYP1B1
2 glaucoma 1, open angle, a 33.7 OPTN MYOC CYP1B1
3 glaucoma 3, primary congenital, a 33.6 WDR36 OPTN MYOC LTBP2 CYP1B1
4 open-angle glaucoma 31.8 WDR36 TMCO1 TGFB2 SIX6 OPTN MYOC
5 intraocular pressure quantitative trait locus 31.6 WDR36 TMCO1 TGFB2 OPTN MYOC LOXL1
6 eye disease 31.4 WDR36 TGFB2 RHO OPTN MYOC LOXL1
7 yemenite deaf-blind hypopigmentation syndrome 31.3 RHO OPTN ABCA4
8 chronic closed-angle glaucoma 31.3 TGFB2 MYOC LOXL1
9 microvascular complications of diabetes 5 31.3 TGFB2 RHO CRYAA
10 leber optic atrophy 31.2 WDR36 MYOC CRYAA ABCA4
11 optic nerve disease 31.2 WDR36 OPTN MYOC ELN CRYAA
12 exfoliation syndrome 31.2 LOXL1 GSTM1 ELN CRYAA
13 ocular hypertension 31.2 WDR36 TMCO1 TGFB2 RHO OPTN MYOC
14 steroid-induced glaucoma 31.2 WDR36 OPTN MYOC CYP1B1 CRYAA COCH
15 color blindness 31.1 RHO CRYAA ABCA4
16 corneal edema 31.0 MYOC LTBP2 CYP1B1
17 glaucoma-related pigment dispersion syndrome 31.0 WDR36 TMCO1 OPTN MYOC LOXL1 CYP1B1
18 glaucoma 3, primary infantile, b 31.0 LTBP2 CYP1B1
19 primary congenital glaucoma 30.9 WDR36 SRBD1 OPTN MYOC LTBP2 LOXL1
20 primary angle-closure glaucoma 30.9 OPTN MYOC CYP1B1
21 pathologic nystagmus 30.7 SIX6 RHO CRYAA
22 juvenile glaucoma 30.7 WDR36 OPTN MYOC LTBP2 LOXL1 CYP1B1
23 retinal disease 30.7 RHO OPTN MYOC CRYAA ABCA4
24 acute closed-angle glaucoma 30.7 OPTN MYOC
25 myopia 30.5 WDR36 TGFB2 SIX6 RHO MYOC LTBP2
26 cataract 30.5 TGFB2 SIX6 RHO LOXL1 GSTM1 CRYAA
27 glaucoma, normal tension 30.3 WDR36 TMCO1 SRBD1 SIX6 OPTN MYOC
28 glaucoma 1, primary open angle, c 12.1
29 glaucoma 1, open angle, f 11.9
30 glaucoma 1, open angle, j 11.9
31 glaucoma 1, open angle, d 11.8
32 glaucoma 1, open angle, k 11.8
33 glaucoma 1, open angle, g 11.7
34 glaucoma 1, open angle, p 11.5
35 glaucoma 1, open angle, o 11.3
36 refractive error 10.8
37 traumatic glaucoma 10.6 MYOC LTBP2
38 microphthalmia, isolated 2 10.6 WDR36 MYOC CYP1B1
39 phimosis 10.6 ELN CYP1B1 CRYAA
40 stargardt macular degeneration 10.6 RHO ABCA4
41 excessive tearing 10.6 WDR36 MYOC LTBP2 CYP1B1
42 hydrophthalmos 10.6 WDR36 MYOC LTBP2 CYP1B1
43 deafness, autosomal dominant 23 10.6 TMCO1 COCH
44 megalocornea 10.6 WDR36 MYOC LTBP2 CYP1B1
45 solar retinopathy 10.6 RHO ABCA4
46 aniridia 1 10.6 MYOC LTBP2 CYP1B1 CRYAA
47 neuropathy 10.6
48 vitreous disease 10.6 TGFB2 RHO CRYAA
49 cranial nerve disease 10.6 WDR36 OPTN MYOC CRYAA
50 aneurysm 10.6 TGFB2 ELN CDKN2B-AS1

Comorbidity relations with Glaucoma, Primary Open Angle via Phenotypic Disease Network (PDN):


Chronic Closed-Angle Glaucoma Hypertension, Essential
Ocular Hypertension Ocular Hypotension
Open-Angle Glaucoma Residual Stage of Open Angle Glaucoma

Graphical network of the top 20 diseases related to Glaucoma, Primary Open Angle:



Diseases related to Glaucoma, Primary Open Angle

Symptoms & Phenotypes for Glaucoma, Primary Open Angle

Human phenotypes related to Glaucoma, Primary Open Angle:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 open angle glaucoma 31 HP:0012108

Symptoms via clinical synopsis from OMIM:

56
Eyes:
myopia
open angle glaucoma

Misc:
more frequent among african americans

Clinical features from OMIM:

137760

MGI Mouse Phenotypes related to Glaucoma, Primary Open Angle:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 ABCA4 CYP1B1 LTBP2 MYOC RHO SIX6

Drugs & Therapeutics for Glaucoma, Primary Open Angle

Drugs for Glaucoma, Primary Open Angle (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 178)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
6
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
7
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
8
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
9
Timolol Approved Phase 4 26839-75-8 33624 5478
10
Brinzolamide Approved Phase 4 138890-62-7 68844
11
Travoprost Approved Phase 4 157283-68-6 5282226
12
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
13
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 4 303-98-0 5281915
14 Cloprostenol Vet_approved Phase 4 54276-21-0
15
Maleic acid Experimental, Investigational Phase 4 110-17-8, 110-16-7 444972
16 Autonomic Agents Phase 4
17 Gastrointestinal Agents Phase 4
18 Antiemetics Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20
protease inhibitors Phase 4
21 HIV Protease Inhibitors Phase 4
22 Polymyxins Phase 4
23 BB 1101 Phase 4
24 Contraceptive Agents Phase 4
25 Luteolytic Agents Phase 4
26 Anticoagulants Phase 4
27 Lubricant Eye Drops Phase 4
28 Dextrans Phase 4
29 Blood Substitutes Phase 4
30 Plasma Substitutes Phase 4
31 Anesthetics Phase 4
32 Anti-Infective Agents Phase 4
33 Benzalkonium Compounds Phase 4
34 Anti-Infective Agents, Local Phase 4
35 Dermatologic Agents Phase 4
36 Anti-Allergic Agents Phase 4
37 Trace Elements Phase 4
38 Micronutrients Phase 4
39 Nutrients Phase 4
40 Ubiquinone Phase 4
41 Pharmaceutical Solutions Phase 4
42 Ophthalmic Solutions Phase 4
43 Antihypertensive Agents Phase 4
44 Neurotransmitter Agents Phase 4
45 Anti-Arrhythmia Agents Phase 4
46 Adrenergic Antagonists Phase 4
47 Adrenergic beta-Antagonists Phase 4
48 Adrenergic Agents Phase 4
49 Adrenergic Agonists Phase 4
50 Adrenergic alpha-2 Receptor Agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 415)
# Name Status NCT ID Phase Drugs
1 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
2 Comparison of Silicone and Porous Plate Ahmed Glaucoma Valves Unknown status NCT01883856 Phase 4
3 A Prospective, Randomized Evaluation of Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent Inject) or Travoprost Ophthalmic Solution 0.004% Unknown status NCT01444040 Phase 4 Travoprost
4 Randomized Crossover Trial Comparing the Hypotensive Effect of Generic Travoprost With That of the Brand Name Travoprost in Patients With Primary Open Angle Glaucoma or Ocular Hypertension Unknown status NCT02796560 Phase 4 Brand name travoprost;Generic travoprost
5 Phase 4 Study to Evaluate Efficacy And Safety of Three Different Preparations of Latanoprost 0,005% Eyedrops in Subjects Affected by Primary Open Angle Glaucoma Unknown status NCT01580254 Phase 4 IOPIZE© Latanoprost eyedrops;GALAXIA© Latanoprost eyedrops;Latanoprost RATIOPHARM© latanoprost eyedrops
6 An 8 Week Comparison of Xalatan (Latanoprost) to Apo-latanoprost and Co-latanoprost in the Treatment of Open Angle Glaucoma Unknown status NCT02792803 Phase 4 Xalatan;Apo-Latanoprost;Co-Latanoprost
7 A Pilot Study on the Effects of Cosopt on IOP Lowering and Ocular Diastolic Perfusion Pressure in Patients Not Controlled With Xalatan Monotherapy Unknown status NCT00796198 Phase 4 Xalatan+Cosopt;Xalatan
8 Safety and Efficacy Assessment of Monoprost® in Comparison With Lumigan® 0.01% and Lumigan® 0.03% Unit Dose, in Patients With Primary Open Angle Glaucoma or Ocular Hypertension, Stabilized by Lumigan® 0.01% With Ocular Surface Intolerance Unknown status NCT02017327 Phase 4 Monoprost;Lumigan 0.01%;Lumigan 0.03% Unit Dose
9 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
10 A Randomised Controlled Trial to Compare the Clinical Effectiveness of Selective Laser Trabeculoplasty (SLT) Versus Topical Therapy in the Treatment of Pseudoexfoliative Glaucoma Unknown status NCT01704989 Phase 4 Prostagladin
11 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication (Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) Unknown status NCT02868190 Phase 4
12 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medications (One a Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) and a Postoperative Topical Prostaglandin Unknown status NCT02873806 Phase 4 Topical travoprost;Tobramycin;Dexamethasone
13 IOP and Tolerability Study of Preserved Bimatoprost 0.1% or Tafluprost Unit Dose Preservative Free 15microgram/ml, in Patients With OHT or Glaucoma Suitable for Prostaglandin Therapy Unknown status NCT02471105 Phase 4 Preserved Bimatoprost 0.01%;Tafluprost Unit Dose Preservative Free 15microgram/ml
14 A Study of LUMIGAN® RC in the Clinical Setting Completed NCT01833741 Phase 4 Bimatoprost 0.01%
15 Dose, Effects and Characteristics of Pilocarpine Completed NCT00803803 Phase 4 Pilocarpine Concentration;Pilocarpine Frequency
16 Assessing the Efficacy and Tolerability of AZARGA® (Brinzolamide 1%/Timolol 0.5% Fixed Combination) as Replacement Therapy in Patients on Brimonidine 0.2%/Timolol 0.5% Fixed Combination Therapy (COMBIGAN®) in Latin America Completed NCT01518244 Phase 4 Brinzolamide/timolol maleate fixed combination
17 A Safety and Efficacy Study of Bimatoprost 0.01% in Primary Open-Angle Glaucoma (POAG) or Ocular Hypertension (OH) Completed NCT01594970 Phase 4 Bimatoprost 0.01%
18 A Prospective, Unmasked, Randomized Evaluation of the iStent Versus Two Ocular Hypotensive Agents in Patients With Primary Open-Angle Glaucoma Completed NCT00913029 Phase 4 latanoprost/timolol
19 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
20 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
21 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
22 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
23 Phase 4 Study to Evaluate Efficacy And Safety of Pneumatic Trabeculoplasty (PNT) in Subjects Affected by Primary Open Angle Glaucoma Completed NCT01540331 Phase 4
24 A Prospective, Randomized Evaluation of Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent) or Travoprost Ophthalmic Solution 0.004% Completed NCT01443988 Phase 4 Travoprost
25 Comparative Evaluation of Intraocular Pressure During the 24 Hour in Patients Affected by Primary Open-angle Glaucoma and Ocular Hypertension: Latanoprost 0.005% Versus Tafluprost 0.0015% Ophthalmic Solutions Completed NCT01162603 Phase 4 TAFLUPROST 0.0015% EYEDROPS;LATANOPROST 0.005% EYEDROPS
26 A 12-Month, Phase 4, Open Label, Multicenter, Trial to Assess the Efficacy and Safety of COMBIGAN® in Korean Patients With Primary Open Angle Glaucoma (POAG) and Normal Tension Glaucoma (NTG) Completed NCT02863705 Phase 4 brimonidine tartrate/timolol malate Ophthalmic Solution;bimatoprost ophthalmic solution 0.01%
27 Blood-aqueous Barrier Changes After the Use of Timolol and Prostaglandin Analogues Fixed Combination in Pseudophakic Patients With Primary Open Angle Glaucoma Completed NCT01978015 Phase 4 travoprost and timolol maleate fixed combination;latanoprost and maleate timolol fixed combination;bimatoprost and timolol maleate fixed combination;dextran and hypromellose
28 A Study of 0.03% Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02020512 Phase 4 0.03% Bimatoprost
29 A Study of Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02061683 Phase 4 Bimatoprost 0.03%
30 Efficacy and Safety of Timolol Maleate 0.5% Compared to Brinzolamide 1% When Added to Travoprost 0.004% in Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00372827 Phase 4 Brinzolamide 1% added to Travoprost 0.004%
31 A Study of 0.15% Brimonidine Tartrate in Patients With Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02003534 Phase 4 0.15% Brimonidine Tartrate
32 24-hour IOP-lowering Effect of 0.01% Bimatoprost Completed NCT01271686 Phase 4 0.01% bimatoprost
33 24-Hour Intraocular Pressure (IOP) And Blood Pressure Control In Glaucoma And Ocular Hypertension Patients Completed NCT00330577 Phase 4 timolol maleate 0.5%;latanoprost/timolol fixed combination;placebo (artificial tears)
34 Health-Related Quality of Life in Two Pathways for Newly Diagnosed Open Angle Glaucoma and Ocular Hypertension: an Unmasked, Multi-centre, Randomised Controlled Trial of Initial Selective Laser Trabeculoplasty Versus Medical Therapy Completed NCT03395535 Phase 4 Primary Medical Treatment Pathway
35 An Open, Non-randomized Pilot Study on the Effect of Preservative Free Tafluprost (Saflutan® Augentropfen) in Patients With Ocular Hypertension or Primary Open Angle Glaucoma With an Uncontrolled Intraocular Pressure of 30 mmHg and More Completed NCT01979913 Phase 4 Saflutan® 15 microgram/ml Augentropfen im Einzeldosisbehältnis
36 A Single Dose Comfort Comparison of Travatan Z in One Eye Versus Xalatan in the Opposite Eye in Patients With Primary Open-Angle Glaucoma or Ocular Hypertension Completed NCT00527592 Phase 4 Travoprost ophthalmic solution 0.004% with SofZia® preservative system (TRAVATAN Z®);Latanoprost ophthalmic solution 0.005% (XALATAN®)
37 Quality of 24-hour Intraocular Pressure Control Obtained With Dorzolamide/Timolol Fixed Combination (DTFC) Compared With the Brimonidine/Timolol Fixed Combination (BTFC) in Subjects With Primary Open-angle Glaucoma Completed NCT00972257 Phase 4 treatment with dorzolamide/timolol;treatment with brimonidine/timolol
38 The Efficacy and Safety of Travoprost, 0.004% Versus Tafluprost, 0.0015% in Primary Open-Angle Glaucoma or Ocular Hypertensive Patients Completed NCT00966940 Phase 4 Travoprost 0.004% ophthalmic solution (TRAVATAN);Tafluprost 0.0015% ophthalmic solution
39 Efficacy Of The Bimatoprost/Timolol Fixed Combination In Patients Treated With Bimatoprost for Primary Open Angle Glaucoma, Exfoliation Glaucoma or Ocular Hypertension. Completed NCT00941096 Phase 4 Bimatoprost and Bimatoprost/Timolol fixed combination.
40 A Randomized Post-Marketing Efficacy And Safety Study Of Xalatan Compared With "Usual Care" Over 36 Months In Patients With Primary Open-Angle Glaucoma, Exfoliative Glaucoma Or Ocular Hypertension Completed NCT00140062 Phase 4 latanoprost 0.005% (Xalatan)
41 Multicentric Study to Evaluate the Efficacy and Tolerability of an Innovative Formulation of Benzalkonium Chloride-free Latanoprost in Patients With Primary Open-Angle Glaucoma Completed NCT03331770 Phase 4 Latanoprost Ophthalmic Product
42 A Multiple-Dose Study of the IOP-Lowering Efficacy of Azopt 1.0% Compared to Timolol 0.5% When Added to a PGA as Adjunctive Therapy Over a 24 Hour Period in Patients With Glaucoma or Ocular Hypertension Completed NCT00300079 Phase 4 brinzolamide 1.0%
43 Safety and Efficacy of Using the Travoprost/Timolol Fixed Combination (DuoTrav®) in Patients With Open-Angle Glaucoma or Uncontrolled Ocular Hypertension by Beta-blocker Monotherapy (Timolol 0.5%) Completed NCT01336569 Phase 4 Travoprost 0.004%/timolol maleate 0.5% fixed combination
44 The Effect of Inhaled Corticosteroids on Intraocular Pressure in Patients With Ocular Hypertension or Controlled Glaucoma. Completed NCT02338362 Phase 4 Fluticasone propionate inhaler;Saline placebo inhaler
45 A Crossover, Double-Masked Comparison Investigating the 24-Hour Intraocular Pressure Control With the Travoprost/Timolol Fixed Combination Versus Travoprost, When Both Are Given in the Evening, in Subjects With Primary Open-Angle Glaucoma Completed NCT00444184 Phase 4 Travoprost/timolol fixed combination, travoprost
46 Phase IV Randomised Double-masked Clinical Trial: Assessing Morning Versus Evening Dosing of a Fixed Dose Combination of Travoprost 0.004% / Timolol Maleate 0.5% in Patients With Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00759239 Phase 4 Travoprost 0.004% / Timolol maleate 0.5%;Travoprost 0.004% / Timolol maleate 0.5%
47 Patient Preference Comparison of AZARGA Versus COSOPT After Single Doses in Patients With Open-Angled Glaucoma or Ocular Hypertension Completed NCT01471158 Phase 4 Brinzolamide/Timolol Maleate Fixed Combination (AZARGA);Dorzolamide/timolol Maleate Fixed Combination (COSOPT)
48 Efficacy and Safety of Adding the Brinzolamide/Timolol Maleate Fixed Combination (AZARGA®) to Ocular Hypertensive or Glaucoma Patients Uncontrolled on Prostaglandin Monotherapy Completed NCT01263444 Phase 4 Brinzolamide 1% / timolol 0.5% Fixed Combination;Habitual prostaglandin monotherapy
49 Comparison of Brimonidine 0.15% Purite, Dorzolamide 2%, and Brinzolamide 1% as Adjunctive Therapy to Prostaglandin Analogs Completed NCT00675207 Phase 4 Brimonidine purite 0.15%;Dorzolamide 2%;Brinzolamide 1%
50 Choroidal Thickness and Its Correlations With Ocular Parameters in Cases With Primary Open-angle Glaucoma Completed NCT03966560 Phase 4 Brimonidine Tartrate;Dorzolamide (as Dorzolamide Hydrochloride) 20 Mg/mL and Timolol (as Timolol Maleate) 5 Mg/mL Eye Drops;Brinzolamide/Timolol 10 MG/1 ML-5 MG/1 ML Ophthalmic Suspension;Travoprost and Timolol;Bimatoprost and Timolol;Latanoprost

Search NIH Clinical Center for Glaucoma, Primary Open Angle

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Glaucoma, Primary Open Angle cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Glaucoma, Primary Open Angle:
Renexus (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Glaucoma, Primary Open Angle:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Genetic Tests for Glaucoma, Primary Open Angle

Genetic tests related to Glaucoma, Primary Open Angle:

# Genetic test Affiliating Genes
1 Primary Open Angle Glaucoma 29 OPTN
2 Primary Open Angle Glaucoma (adult Onset) 29
3 Glaucoma 1, Open Angle, E 29

Anatomical Context for Glaucoma, Primary Open Angle

MalaCards organs/tissues related to Glaucoma, Primary Open Angle:

40
Eye, Testes, Endothelial, Retina, Brain, Cortex, Heart
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Glaucoma, Primary Open Angle:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Ganglion Cell Layer Mature Ganglion Cells Affected by disease

Publications for Glaucoma, Primary Open Angle

Articles related to Glaucoma, Primary Open Angle:

(show top 50) (show all 6899)
# Title Authors PMID Year
1
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 6 56 61
11834836 2002
2
Altered nitric oxide system in patients with open-angle glaucoma. 56 61
17420369 2007
3
Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma. 61 56
17325163 2007
4
Systemic reduction in glutathione levels occurs in patients with primary open-angle glaucoma. 56 61
15728543 2005
5
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 6 61
15342693 2004
6
Reduction of posterior pole retinal thickness in glaucoma detected using the Retinal Thickness Analyzer. 56 61
15019374 2004
7
Oxidative stress markers in aqueous humor of glaucoma patients. 56 61
14700645 2004
8
Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. 56 61
14691154 2004
9
Effects of TGF-beta2 in perfused human eyes. 61 56
14691167 2004
10
A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. 56 61
12616399 2003
11
T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. 61 56
11292402 2001
12
Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients. 56 61
11129344 2000
13
Genome-wide scan for adult onset primary open angle glaucoma. 56 61
10767336 2000
14
Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families. 61 56
9748694 1998
15
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. 56 61
9497264 1998
16
Recent advances in molecular genetics of glaucomas. 61 56
9300658 1997
17
Models of open-angle glaucoma prevalence and incidence in the United States. 56 61
9008633 1997
18
The distinction between juvenile and adult-onset primary open-angle glaucoma. 61 56
8554064 1996
19
Genetic defect in cortisol metabolism in primary open angle glaucoma. 56 61
3842204 1985
20
Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma. 56
25819459 2015
21
Prevention of nocturnal elevation of intraocular pressure by gene transfer of dominant-negative RhoA in rats. 56
25412195 2015
22
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. 56
21532571 2011
23
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 6
18470941 2008
24
Prostaglandins increase trabecular meshwork outflow facility in cultured human anterior segments. 56
17988642 2008
25
Global changes in optic nerve head gene expression after exposure to elevated intraocular pressure in a rat glaucoma model. 56
17591886 2007
26
Presence of an established calcification marker in trabecular meshwork tissue of glaucoma donors. 56
17591888 2007
27
Heritable features of the optic disc: a novel twin method for determining genetic significance. 56
17525172 2007
28
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. 56
17389490 2007
29
High myopia and glaucoma susceptibility the Beijing Eye Study. 56
17123613 2007
30
Endothelin B receptor in human glaucoma and experimentally induced optic nerve damage. 56
16682595 2006
31
Model of endothelin-1-induced chronic optic neuropathy in rat. 56
14691166 2004
32
Ganglion cell losses underlying visual field defects from experimental glaucoma. 56
10476789 1999
33
Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. 56
9012399 1997
34
Risk factors for the development of glaucomatous visual field loss in ocular hypertension. 56
8185522 1994
35
Open-angle glaucoma. 56
8455668 1993
36
Racial differences in intraocular tension and glaucoma surgery. 56
7387780 1980
37
Current concepts in ophthalmology: the glaucomas. 56
351398 1978
38
Twin heritability study of the effect of corticosteroids on intraocular pressure. 56
5065285 1972
39
Ocular pressure and aqueous outflow facility in siblings. 56
5670691 1968
40
The heritable nature of dexamethasone-induced ocular hypertension. 56
5900502 1966
41
THE INHERITANCE OF GLAUCOMA. A PEDIGREE OF FAMILIAL GLAUCOMA. 56
14310076 1965
42
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece. 54 61
20390039 2010
43
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma. 54 61
20021252 2010
44
[Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg]. 54 61
20198978 2009
45
Autosomal recessive primary open angle glaucoma (POAG) in beagles is not associated with mutations in the myocilin (MYOC) gene. 54 61
19225800 2009
46
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma. 54 61
19148291 2009
47
Gillies lecture: dissecting glaucoma: understanding the molecular risk factors. 61 54
18925913 2008
48
Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. 61 54
18307994 2008
49
Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. 61 54
19096718 2008
50
Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent. 54 61
18303389 2008

Variations for Glaucoma, Primary Open Angle

ClinVar genetic disease variations for Glaucoma, Primary Open Angle:

6 (show top 50) (show all 222) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OPTN NM_001008212.2(OPTN):c.148G>A (p.Glu50Lys)SNV Pathogenic 7096 rs28939688 10:13151270-13151270 10:13109270-13109270
2 OPTN OPTN, 2-BP INS, 691AGinsertion Pathogenic 7097
3 MYOC NM_000261.2(MYOC):c.1111T>C (p.Tyr371His)SNV Pathogenic 242274 rs878854408 1:171605469-171605469 1:171636329-171636329
4 OPTN NC_000010.10:g.(?_13151103)_(13178886_?)deldeletion Pathogenic 529764 10:13151103-13178886 10:13109103-13136886
5 OPTN NC_000010.10:g.(?_12833157)_(13178866_?)deldeletion Pathogenic 584050 10:12833157-13178866
6 OPTN NC_000010.10:g.(?_13151123)_(13225100_?)deldeletion Pathogenic 583651 10:13151123-13225100 10:13109123-13183100
7 OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)duplication Pathogenic 576203 rs1564354968 10:13151280-13151283 10:13109280-13109283
8 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)insertion Pathogenic 647662 10:13154464-13154465 10:13112464-13112465
9 CARD10 NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp)SNV risk factor 224916 rs201794655 22:37888801-37888801 22:37492794-37492794
10 CARD10 NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp)SNV risk factor 224915 rs750643216 22:37902372-37902372 22:37506365-37506365
11 CARD10 NM_014550.4(CARD10):c.1024G>A (p.Val342Met)SNV risk factor 224914 rs200148764 22:37904575-37904575 22:37508568-37508568
12 CARD10 NM_014550.4(CARD10):c.983C>T (p.Ala328Val)SNV risk factor 224913 rs139006752 22:37904616-37904616 22:37508609-37508609
13 CARD10 NM_014550.4(CARD10):c.635G>A (p.Arg212His)SNV risk factor 224912 rs1057519378 22:37912044-37912044 22:37516037-37516037
14 LTBP2 NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg)SNV Likely pathogenic 126955 rs137854863 14:74971805-74971805 14:74505102-74505102
15 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338
16 LTBP2 NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln)SNV Likely pathogenic 126950 rs137854858 14:75017969-75017969 14:74551266-74551266
17 LTBP2 NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)SNV Likely pathogenic 126958 rs137854860 14:74969614-74969614 14:74502911-74502911
18 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn)SNV Conflicting interpretations of pathogenicity 7744 rs9282671 2:38302291-38302291 2:38075148-38075148
19 OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)SNV Conflicting interpretations of pathogenicity 7098 rs75654767 10:13178766-13178766 10:13136766-13136766
20 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053
21 WDR36 NM_139281.2(WDR36):c.376G>A (p.Asp126Asn)SNV Conflicting interpretations of pathogenicity 350303 rs115541547 5:110432794-110432794 5:111097096-111097096
22 OPTN NM_001008212.2(OPTN):c.963C>T (p.Ser321=)SNV Conflicting interpretations of pathogenicity 299218 rs150381274 10:13166075-13166075 10:13124075-13124075
23 OPTN NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)SNV Uncertain significance 299222 rs771316696 10:13175538-13175538 10:13133538-13133538
24 OPTN NM_001008212.2(OPTN):c.*938C>GSNV Uncertain significance 299232 rs886046826 10:13179804-13179804 10:13137804-13137804
25 OPTN NM_001008212.2(OPTN):c.*1089G>ASNV Uncertain significance 299235 rs758812707 10:13179955-13179955 10:13137955-13137955
26 OPTN NM_001008212.2(OPTN):c.573A>G (p.Ser191=)SNV Uncertain significance 299215 rs773095721 10:13158287-13158287 10:13116287-13116287
27 OPTN NM_001008212.2(OPTN):c.*218G>CSNV Uncertain significance 299225 rs886046824 10:13179084-13179084 10:13137084-13137084
28 OPTN NM_001008212.2(OPTN):c.*386C>ASNV Uncertain significance 299228 rs745564491 10:13179252-13179252 10:13137252-13137252
29 OPTN NM_001008212.2(OPTN):c.*413G>ASNV Uncertain significance 299229 rs886046825 10:13179279-13179279 10:13137279-13137279
30 OPTN NM_001008212.2(OPTN):c.*1251C>GSNV Uncertain significance 299236 rs542617940 10:13180117-13180117 10:13138117-13138117
31 OPTN NM_001008212.2(OPTN):c.-250C>ASNV Uncertain significance 299206 rs886046818 10:13142216-13142216 10:13100216-13100216
32 OPTN NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)SNV Uncertain significance 299209 rs756622651 10:13152354-13152354 10:13110354-13110354
33 OPTN NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)SNV Uncertain significance 299211 rs757411888 10:13154508-13154508 10:13112508-13112508
34 OPTN NM_001008212.2(OPTN):c.441G>A (p.Val147=)SNV Uncertain significance 299212 rs886046819 10:13154524-13154524 10:13112524-13112524
35 OPTN NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)SNV Uncertain significance 651429 10:13154486-13154486 10:13112486-13112486
36 OPTN NM_001008212.2(OPTN):c.1402-3C>GSNV Uncertain significance 650247 10:13174064-13174064 10:13132064-13132064
37 OPTN NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)SNV Uncertain significance 565324 rs1564354765 10:13151136-13151136 10:13109136-13109136
38 WDR36 NM_139281.2(WDR36):c.*2133C>ASNV Uncertain significance 350383 rs545595431 5:110464714-110464714 5:111129016-111129016
39 WDR36 NM_139281.2(WDR36):c.*2282_*2284delCTTshort repeat Uncertain significance 350385 rs886059780 5:110464863-110464865 5:111129165-111129167
40 WDR36 NM_139281.2(WDR36):c.*2892G>ASNV Uncertain significance 350398 rs886059787 5:110465473-110465473 5:111129775-111129775
41 WDR36 NM_139281.2(WDR36):c.*2223C>TSNV Uncertain significance 350384 rs886059779 5:110464804-110464804 5:111129106-111129106
42 WDR36 NM_139281.2(WDR36):c.*2638T>GSNV Uncertain significance 350390 rs886059783 5:110465219-110465219 5:111129521-111129521
43 WDR36 NM_139281.2(WDR36):c.*3457A>GSNV Uncertain significance 350404 rs886059789 5:110466038-110466038 5:111130340-111130340
44 WDR36 NM_139281.2(WDR36):c.*3576A>GSNV Uncertain significance 350405 rs886059790 5:110466157-110466157 5:111130459-111130459
45 WDR36 NM_139281.2(WDR36):c.*3598_*3602deldeletion Uncertain significance 350407 rs886059792 5:110466179-110466183 5:111130481-111130485
46 OPTN NM_001008212.2(OPTN):c.-272G>TSNV Uncertain significance 299204 rs886046817 10:13142194-13142194 10:13100194-13100194
47 OPTN NM_001008212.2(OPTN):c.*1042T>GSNV Uncertain significance 299233 rs886046827 10:13179908-13179908 10:13137908-13137908
48 OPTN NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)SNV Uncertain significance 299220 rs886046821 10:13174092-13174092 10:13132092-13132092
49 OPTN NM_001008212.2(OPTN):c.444G>A (p.Val148=)SNV Uncertain significance 299213 rs780011442 10:13154527-13154527 10:13112527-13112527
50 OPTN NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)SNV Uncertain significance 299217 rs886046820 10:13166073-13166073 10:13124073-13124073

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma, Primary Open Angle:

73
# Symbol AA change Variation ID SNP ID
1 OPTN p.His26Asp VAR_021537 rs200710076
2 OPTN p.Glu50Lys VAR_021538 rs28939688
3 OPTN p.Glu103Asp VAR_021540 rs134686580
4 OPTN p.His486Arg VAR_021546 rs373425395

Expression for Glaucoma, Primary Open Angle

Search GEO for disease gene expression data for Glaucoma, Primary Open Angle.

Pathways for Glaucoma, Primary Open Angle

Pathways related to Glaucoma, Primary Open Angle according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

Pathways related to Glaucoma, Primary Open Angle according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 TGFB2 LTBP2 LOXL1 ELN

GO Terms for Glaucoma, Primary Open Angle

Cellular components related to Glaucoma, Primary Open Angle according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.26 LTBP2 LOXL1 ELN COCH
2 collagen-containing extracellular matrix GO:0062023 9.1 TGFB2 MYOC LTBP2 LOXL1 ELN COCH

Biological processes related to Glaucoma, Primary Open Angle according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.1 WDR36 SIX6 RHO CYP1B1 CRYAA ABCA4
2 phototransduction, visible light GO:0007603 8.96 RHO ABCA4

Sources for Glaucoma, Primary Open Angle

3 CDC
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11 DGIdb
17 EFO
18 ExPASy
19 FMA
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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72 UMLS via Orphanet
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