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POAG
MCID: GLC092
MIFTS: 63

Glaucoma, Primary Open Angle (POAG)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Glaucoma, Primary Open Angle

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MalaCards integrated aliases for Glaucoma, Primary Open Angle:

Name: Glaucoma, Primary Open Angle 57 74 38 72
Primary Open Angle Glaucoma 12 37 29 55 6 15
Glaucoma 1, Open Angle, E 57 74 29 13 6 72
Poag 57 74
Adult-Onset Primary Open Angle Glaucoma 74
Primary Open Angle Glaucoma 1e 74
Glaucoma, Open Angle, Primary 40
Chronic Simple Glaucoma 12
Glc1e 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
glaucoma, primary open angle:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:1070
OMIM 57 137760
KEGG 37 H00612
ICD9CM 35 365.11
MeSH 44 D005902
NCIt 50 C35394
SNOMED-CT 68 77075001
ICD10 33 H40.11
UMLS 72 C0339573 C1842026
Sources

Summaries for Glaucoma, Primary Open Angle

About this section
UniProtKB/Swiss-Prot : 74 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 glaucoma 1, open angle, a and early-onset glaucoma. 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 Bimatoprost and Latanoprost have been mentioned in the context of this disorder. Affiliated tissues include Eye, eye and testes, 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 : 57 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 : 37
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.

Sources

Related Diseases for Glaucoma, Primary Open Angle

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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 225)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 34.1 OPTN MYOC CYP1B1
2 early-onset glaucoma 33.8 MYOC CYP1B1
3 glaucoma 3, primary congenital, a 33.7 OPTN MYOC CYP1B1
4 ocular hypertension 31.5 TMCO1 OPTN MYOC
5 glaucoma-related pigment dispersion syndrome 31.4 LOXL1 CYP1B1
6 chronic closed-angle glaucoma 31.4 TGFB2 OPTN
7 glaucoma, normal tension 31.3 OPTN LOXL1
8 primary angle-closure glaucoma 31.3 OPTN MYOC CYP1B1
9 primary congenital glaucoma 31.2 WDR36 OPTN MYOC CYP1B1
10 neovascular glaucoma 30.9 TGFB2 OPTN
11 juvenile glaucoma 30.4 WDR36 TGFB2 OPTN MYOC ELN CYP1B1
12 open-angle glaucoma 29.8 WDR36 TMCO1 TGFB2 SIX6 SIX1 OPTN
13 glaucoma 1, primary open angle, c 12.1
14 glaucoma 1, open angle, f 11.9
15 glaucoma 1, open angle, j 11.9
16 glaucoma 1, open angle, d 11.8
17 glaucoma 1, open angle, k 11.8
18 glaucoma 1, open angle, g 11.7
19 glaucoma 1, open angle, p 11.5
20 glaucoma 1, open angle, o 11.3
21 intraocular pressure quantitative trait locus 10.9
22 refractive error 10.8
23 acrofrontofacionasal dysostosis 10.7 OPTN CYP1B1
24 hydrophthalmos 10.7 OPTN CYP1B1
25 eye disease 10.7
26 excessive tearing 10.7 OPTN MYOC CYP1B1
27 corneal edema 10.7 OPTN MYOC CYP1B1
28 autosomal recessive cutis laxa type iii 10.6 OPTN ELN
29 axenfeld-rieger syndrome, type 2 10.6 OPTN ASB10
30 neuropathy 10.6
31 iris disease 10.6 OPTN LOXL1 CRYAA
32 senile cataract 10.6
33 axenfeld-rieger syndrome 10.6 OPTN CYP1B1 ASB10
34 phimosis 10.5 ELN CYP1B1
35 3-methylglutaconic aciduria, type iii 10.5
36 scotoma 10.5
37 macular degeneration, age-related, 1 10.5
38 alzheimer disease 10.5
39 helicobacter pylori infection 10.5
40 phacogenic glaucoma 10.4 OPTN LOXL1 ELN CRYAA
41 aortic aneurysm 10.4 TGFB2 ELN CDKN2B-AS1
42 migraine with or without aura 1 10.4
43 astigmatism 10.4
44 glaucoma 1, open angle, b 10.4
45 vascular disease 10.4
46 microvascular complications of diabetes 5 10.4
47 macular retinal edema 10.4
48 yemenite deaf-blind hypopigmentation syndrome 10.4
49 deafness, autosomal dominant 23 10.4 SIX1 COCH
50 retinal detachment 10.3

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
Sources

Symptoms & Phenotypes for Glaucoma, Primary Open Angle

About this section

Human phenotypes related to Glaucoma, Primary Open Angle:

32
# Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 open angle glaucoma 32 HP:0012108

Symptoms via clinical synopsis from OMIM:

57
Eyes:
myopia
open angle glaucoma

Misc:
more frequent among african americans

Clinical features from OMIM:

137760
Sources

Drugs & Therapeutics for Glaucoma, Primary Open Angle

About this section

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

(show top 50) (show all 186)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
2
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
3
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
6
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
7
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
8
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
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 3154 5284549
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 Contraceptive Agents Phase 4
17 Luteolytic Agents Phase 4
18 Dextrans Phase 4
19 Lubricant Eye Drops Phase 4
20 Plasma Substitutes Phase 4
21 Anticoagulants Phase 4
22 Blood Substitutes Phase 4
23 Anesthetics Phase 4
24 Anti-Infective Agents, Local Phase 4
25 Benzalkonium Compounds Phase 4
26 Anti-Allergic Agents Phase 4
27 Dermatologic Agents Phase 4
28 Peripheral Nervous System Agents Phase 4
29 Autonomic Agents Phase 4
30 Hormones Phase 4
31 Anti-Inflammatory Agents Phase 4
32 Gastrointestinal Agents Phase 4
33 Antiemetics Phase 4
34 glucocorticoids Phase 4
35 Antineoplastic Agents, Hormonal Phase 4
36 Hormone Antagonists Phase 4
37 Anti-Infective Agents Phase 4
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
39 HIV Protease Inhibitors Phase 4
40
protease inhibitors Phase 4
41 Polymyxins Phase 4
42 BB 1101 Phase 4
43 Micronutrients Phase 4
44 Trace Elements Phase 4
45 Nutrients Phase 4
46 Ubiquinone Phase 4
47 Ophthalmic Solutions Phase 4
48 Pharmaceutical Solutions Phase 4
49 Antihypertensive Agents Phase 4
50 Neurotransmitter Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 405)
# Name Status NCT ID Phase Drugs
1 Comparison of Silicone and Porous Plate Ahmed Glaucoma Valves Unknown status NCT01883856 Phase 4
2 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
3 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
4 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
5 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
6 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
7 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
8 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
9 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
10 A Study of LUMIGAN® RC in the Clinical Setting Completed NCT01833741 Phase 4 Bimatoprost 0.01%
11 Dose, Effects and Characteristics of Pilocarpine Completed NCT00803803 Phase 4 Pilocarpine Concentration;Pilocarpine Frequency
12 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
13 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%
14 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
15 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
16 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
17 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
18 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
19 Phase 4 Study to Evaluate Efficacy And Safety of Pneumatic Trabeculoplasty (PNT) in Subjects Affected by Primary Open Angle Glaucoma Completed NCT01540331 Phase 4
20 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
21 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
22 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%
23 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
24 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
25 A Study of 0.03% Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02020512 Phase 4 0.03% Bimatoprost
26 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%
27 A Study of Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02061683 Phase 4 Bimatoprost 0.03%
28 24-hour IOP-lowering Effect of 0.01% Bimatoprost Completed NCT01271686 Phase 4 0.01% bimatoprost
29 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)
30 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
31 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
32 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
33 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.
34 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
35 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®)
36 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)
37 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
38 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%
39 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
40 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
41 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)
42 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%
43 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%
44 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
45 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
46 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
47 Prospective, Randomized Clinical Trial,to Compare Standard Trabeculectomy to the Ex-PRESS Mini Glaucoma Shunt Implantation Under a Scleral Flap in Eyes With Open-Angle Glaucoma Completed NCT00698438 Phase 4
48 Efficacy and Tolerability of Preservative-free 0.0015% Tafluprost in Glaucoma Patients Completed NCT03104621 Phase 4 Benzalkonium chloride (BAK);0.0015% tafluprost
49 Safety and Efficacy Assessment of Geltim LP® 1 mg/g (Unpreserved Timolol Gel - TG1030) in Ocular Hypertensive or Glaucomatous Patients Stabilized by Xalatan® With Ocular Intolerance Signs. Completed NCT01155219 Phase 4 Geltim LP 1 mg/g;Xalatan
50 Influence of Travoprost 0.004% and Latanoprost 0.005% on Retinal Vascular Diameter and Choroidal Blood Flow in Glaucoma Patients Completed NCT00308945 Phase 4 travoprost 0.004% (drug);latanoprost 0.005% (drug)

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
Sources

Genetic Tests for Glaucoma, Primary Open Angle

About this section

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
Sources

Anatomical Context for Glaucoma, Primary Open Angle

About this section

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

41
Eye, Testes, Endothelial, Retina, Brain, Cortex, Bone
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
Sources

Publications for Glaucoma, Primary Open Angle

About this section

Articles related to Glaucoma, Primary Open Angle:

(show top 50) (show all 6786)
# Title Authors PMID Year
1
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 38 8 71
11834836 2002
2
Altered nitric oxide system in patients with open-angle glaucoma. 38 8
17420369 2007
3
Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma. 38 8
17325163 2007
4
Systemic reduction in glutathione levels occurs in patients with primary open-angle glaucoma. 38 8
15728543 2005
5
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 38 71
15342693 2004
6
Reduction of posterior pole retinal thickness in glaucoma detected using the Retinal Thickness Analyzer. 38 8
15019374 2004
7
Oxidative stress markers in aqueous humor of glaucoma patients. 38 8
14700645 2004
8
Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. 38 8
14691154 2004
9
Effects of TGF-beta2 in perfused human eyes. 38 8
14691167 2004
10
A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. 38 8
12616399 2003
11
T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. 38 8
11292402 2001
12
Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients. 38 8
11129344 2000
13
Genome-wide scan for adult onset primary open angle glaucoma. 38 8
10767336 2000
14
Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families. 38 8
9748694 1998
15
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. 38 8
9497264 1998
16
Models of open-angle glaucoma prevalence and incidence in the United States. 38 8
9008633 1997
17
Recent advances in molecular genetics of glaucomas. 38 8
9300658 1997
18
The distinction between juvenile and adult-onset primary open-angle glaucoma. 38 8
8554064 1996
19
Genetic defect in cortisol metabolism in primary open angle glaucoma. 38 8
3842204 1985
20
Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma. 8
25819459 2015
21
Prevention of nocturnal elevation of intraocular pressure by gene transfer of dominant-negative RhoA in rats. 8
25412195 2015
22
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. 8
21532571 2011
23
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 71
18470941 2008
24
Prostaglandins increase trabecular meshwork outflow facility in cultured human anterior segments. 8
17988642 2008
25
Global changes in optic nerve head gene expression after exposure to elevated intraocular pressure in a rat glaucoma model. 8
17591886 2007
26
Presence of an established calcification marker in trabecular meshwork tissue of glaucoma donors. 8
17591888 2007
27
Heritable features of the optic disc: a novel twin method for determining genetic significance. 8
17525172 2007
28
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. 8
17389490 2007
29
High myopia and glaucoma susceptibility the Beijing Eye Study. 8
17123613 2007
30
Endothelin B receptor in human glaucoma and experimentally induced optic nerve damage. 8
16682595 2006
31
Model of endothelin-1-induced chronic optic neuropathy in rat. 8
14691166 2004
32
Ganglion cell losses underlying visual field defects from experimental glaucoma. 8
10476789 1999
33
Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. 8
9012399 1997
34
Risk factors for the development of glaucomatous visual field loss in ocular hypertension. 8
8185522 1994
35
Open-angle glaucoma. 8
8455668 1993
36
Racial differences in intraocular tension and glaucoma surgery. 8
7387780 1980
37
Current concepts in ophthalmology: the glaucomas. 8
351398 1978
38
Twin heritability study of the effect of corticosteroids on intraocular pressure. 8
5065285 1972
39
Ocular pressure and aqueous outflow facility in siblings. 8
5670691 1968
40
The heritable nature of dexamethasone-induced ocular hypertension. 8
5900502 1966
41
THE INHERITANCE OF GLAUCOMA. A PEDIGREE OF FAMILIAL GLAUCOMA. 8
14310076 1965
42
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece. 9 38
20390039 2010
43
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma. 9 38
20021252 2010
44
[Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg]. 9 38
20198978 2009
45
Autosomal recessive primary open angle glaucoma (POAG) in beagles is not associated with mutations in the myocilin (MYOC) gene. 9 38
19225800 2009
46
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma. 9 38
19148291 2009
47
Gillies lecture: dissecting glaucoma: understanding the molecular risk factors. 9 38
18925913 2008
48
Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. 9 38
18307994 2008
49
Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. 9 38
19096718 2008
50
Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent. 9 38
18303389 2008
Sources

Variations for Glaucoma, Primary Open Angle

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ClinVar genetic disease variations for Glaucoma, Primary Open Angle:

6 (show top 50) (show all 222)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OPTN NC_000010.10: g.(?_13151103)_(13178886_?)del deletion Pathogenic 10:13151103-13178886 10:13109103-13136886
2 OPTN NM_001008211.1(OPTN): c.148G> A (p.Glu50Lys) single nucleotide variant Pathogenic rs28939688 10:13151270-13151270 10:13109270-13109270
3 OPTN OPTN, 2-BP INS, 691AG insertion Pathogenic
4 MYOC NM_000261.2(MYOC): c.1111T> C (p.Tyr371His) single nucleotide variant Pathogenic rs878854408 1:171605469-171605469 1:171636329-171636329
5 OPTN NC_000010.10: g.(?_12833157)_(13178866_?)del deletion Pathogenic 10:12833157-13178866 :0-0
6 OPTN NC_000010.10: g.(?_13151123)_(13225100_?)del deletion Pathogenic 10:13151123-13225100 10:13109123-13183100
7 OPTN NM_001008211.1(OPTN): c.158_161dup (p.Lys55fs) duplication Pathogenic 10:13151280-13151283 10:13109280-13109283
8 OPTN NM_001008211.1(OPTN): c.381_382insAG (p.Asp128fs) insertion Pathogenic 10:13154464-13154465 10:13112464-13112465
9 LTBP2 NM_000428.3(LTBP2): c.4250A> G (p.Gln1417Arg) single nucleotide variant Likely pathogenic rs137854863 14:74971805-74971805 14:74505102-74505102
10 LTBP2 NM_000428.3(LTBP2): c.4912G> A (p.Val1638Met) single nucleotide variant Likely pathogenic rs137854860 14:74969614-74969614 14:74502911-74502911
11 CARD10 NM_014550.4(CARD10): c.2485C> T (p.Arg829Trp) single nucleotide variant risk factor rs201794655 22:37888801-37888801 22:37492794-37492794
12 CARD10 NM_014550.4(CARD10): c.1210C> T (p.Arg404Trp) single nucleotide variant risk factor rs750643216 22:37902372-37902372 22:37506365-37506365
13 CARD10 NM_014550.4(CARD10): c.1024G> A (p.Val342Met) single nucleotide variant risk factor rs200148764 22:37904575-37904575 22:37508568-37508568
14 CARD10 NM_014550.4(CARD10): c.983C> T (p.Ala328Val) single nucleotide variant risk factor rs139006752 22:37904616-37904616 22:37508609-37508609
15 CARD10 NM_014550.4(CARD10): c.635G> A (p.Arg212His) single nucleotide variant risk factor rs1057519378 22:37912044-37912044 22:37516037-37516037
16 MYOC NM_000261.2(MYOC): c.1102C> T (p.Gln368Ter) single nucleotide variant Likely pathogenic rs74315329 1:171605478-171605478 1:171636338-171636338
17 LTBP2 NM_000428.3(LTBP2): c.1484G> A (p.Arg495Gln) single nucleotide variant Likely pathogenic rs137854858 14:75017969-75017969 14:74551266-74551266
18 OPTN NM_001008211.1(OPTN): c.1634G> A (p.Arg545Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs75654767 10:13178766-13178766 10:13136766-13136766
19 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 2:38302291-38302291 2:38075148-38075148
20 OPTN NM_001008211.1(OPTN): c.941A> T (p.Gln314Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142812715 10:13166053-13166053 10:13124053-13124053
21 WDR36 NM_139281.2(WDR36): c.376G> A (p.Asp126Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs115541547 5:110432794-110432794 5:111097096-111097096
22 OPTN NM_001008211.1(OPTN): c.963C> T (p.Ser321=) single nucleotide variant Conflicting interpretations of pathogenicity rs150381274 10:13166075-13166075 10:13124075-13124075
23 OPTN NM_001008211.1(OPTN): c.1569G> A (p.Ala523=) single nucleotide variant Uncertain significance rs771316696 10:13175538-13175538 10:13133538-13133538
24 OPTN NM_001008211.1(OPTN): c.*1251C> G single nucleotide variant Uncertain significance rs542617940 10:13180117-13180117 10:13138117-13138117
25 OPTN NM_001008211.1(OPTN): c.-319C> A single nucleotide variant Uncertain significance rs886046818 10:13142216-13142216 10:13100216-13100216
26 OPTN NM_001008211.1(OPTN): c.247C> T (p.Arg83Cys) single nucleotide variant Uncertain significance rs756622651 10:13152354-13152354 10:13110354-13110354
27 OPTN NM_001008211.1(OPTN): c.425A> C (p.Gln142Pro) single nucleotide variant Uncertain significance rs757411888 10:13154508-13154508 10:13112508-13112508
28 OPTN NM_001008211.1(OPTN): c.441G> A (p.Val147=) single nucleotide variant Uncertain significance rs886046819 10:13154524-13154524 10:13112524-13112524
29 OPTN NM_001008211.1(OPTN): c.*152G> T single nucleotide variant Uncertain significance rs886046823 10:13179018-13179018 10:13137018-13137018
30 OPTN NM_001008211.1(OPTN): c.*306G> A single nucleotide variant Uncertain significance rs538280633 10:13179172-13179172 10:13137172-13137172
31 OPTN NM_001008211.1(OPTN): c.*461G> A single nucleotide variant Uncertain significance rs541250740 10:13179327-13179327 10:13137327-13137327
32 OPTN NM_001008211.1(OPTN): c.-453G> T single nucleotide variant Uncertain significance rs886046816 10:13142082-13142082 10:13100082-13100082
33 OPTN NM_001008211.1(OPTN): c.573A> G (p.Ser191=) single nucleotide variant Uncertain significance rs773095721 10:13158287-13158287 10:13116287-13116287
34 OPTN NM_001008211.1(OPTN): c.*218G> C single nucleotide variant Uncertain significance rs886046824 10:13179084-13179084 10:13137084-13137084
35 OPTN NM_001008211.1(OPTN): c.*386C> A single nucleotide variant Uncertain significance rs745564491 10:13179252-13179252 10:13137252-13137252
36 OPTN NM_001008211.1(OPTN): c.*413G> A single nucleotide variant Uncertain significance rs886046825 10:13179279-13179279 10:13137279-13137279
37 OPTN NM_001008211.1(OPTN): c.403G> A (p.Glu135Lys) single nucleotide variant Uncertain significance 10:13154486-13154486 10:13112486-13112486
38 OPTN NM_001008211.1(OPTN): c.1402-3C> G single nucleotide variant Uncertain significance 10:13174064-13174064 10:13132064-13132064
39 OPTN NM_001008211.1(OPTN): c.14C> G (p.Pro5Arg) single nucleotide variant Uncertain significance 10:13151136-13151136 10:13109136-13109136
40 OPTN NM_001008211.1(OPTN): c.*938C> G single nucleotide variant Uncertain significance rs886046826 10:13179804-13179804 10:13137804-13137804
41 OPTN NM_001008211.1(OPTN): c.*1089G> A single nucleotide variant Uncertain significance rs758812707 10:13179955-13179955 10:13137955-13137955
42 WDR36 NM_139281.2(WDR36): c.*1735A> T single nucleotide variant Uncertain significance rs886059774 5:110464316-110464316 5:111128618-111128618
43 WDR36 NM_139281.2(WDR36): c.*1740C> T single nucleotide variant Uncertain significance rs886059775 5:110464321-110464321 5:111128623-111128623
44 WDR36 NM_139281.2(WDR36): c.*2223C> T single nucleotide variant Uncertain significance rs886059779 5:110464804-110464804 5:111129106-111129106
45 WDR36 NM_139281.2(WDR36): c.*2638T> G single nucleotide variant Uncertain significance rs886059783 5:110465219-110465219 5:111129521-111129521
46 WDR36 NM_139281.2(WDR36): c.*2133C> A single nucleotide variant Uncertain significance rs545595431 5:110464714-110464714 5:111129016-111129016
47 WDR36 NM_139281.2(WDR36): c.*2279_*2281CTT[1] short repeat Uncertain significance rs886059780 5:110464863-110464865 5:111129165-111129167
48 WDR36 NM_139281.2(WDR36): c.*2892G> A single nucleotide variant Uncertain significance rs886059787 5:110465473-110465473 5:111129775-111129775
49 WDR36 NM_139281.2(WDR36): c.*3457A> G single nucleotide variant Uncertain significance rs886059789 5:110466038-110466038 5:111130340-111130340
50 WDR36 NM_139281.2(WDR36): c.*3576A> G single nucleotide variant Uncertain significance rs886059790 5:110466157-110466157 5:111130459-111130459

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

74
# 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

Sources

Expression for Glaucoma, Primary Open Angle

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

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

37
# 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
Elastic fibre formation 66
Show member pathways
 10.66 TGFB2 LOXL1 ELN
Sources

GO Terms for Glaucoma, Primary Open Angle

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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 9.13 LOXL1 ELN COCH
2 collagen-containing extracellular matrix GO:0062023 8.92 TGFB2 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 anatomical structure development GO:0048856 9.16 SIX6 SIX1
2 visual perception GO:0007601 9.02 WDR36 SIX6 CYP1B1 CRYAA ABCA4
3 generation of neurons GO:0048699 8.96 TGFB2 SIX1
Sources

Sources for Glaucoma, Primary Open Angle

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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