POAG
MCID: GLC092
MIFTS: 60

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 57 72 37 70
Primary Open Angle Glaucoma 12 36 29 54 6 15
Glaucoma 1, Open Angle, E 57 72 29 13 6 70
Poag 57 72
Adult-Onset Primary Open Angle Glaucoma 72
Primary Open Angle Glaucoma 1e 72
Glaucoma, Open Angle, Primary 39
Chronic Simple Glaucoma 12
Glc1e 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
glaucoma, primary open angle:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1070
OMIM® 57 137760
KEGG 36 H00612
ICD9CM 34 365.11
MeSH 44 D005902
NCIt 50 C35394
SNOMED-CT 67 77075001
ICD10 32 H40.11
SNOMED-CT via HPO 68 263681008 57190000
UMLS 70 C0339573 C1842026

Summaries for Glaucoma, Primary Open Angle

UniProtKB/Swiss-Prot : 72 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 3, primary congenital, a and glaucoma 1, open angle, d. 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 Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include Eye, endothelial and retina, 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) (Updated 20-May-2021)

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 275)
# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 33.2 WDR36 OPTN MYOC LTBP2 CYP1B1
2 glaucoma 1, open angle, d 33.1 OPTN MYOC LTBP2 LOC108903148 CYP1B1 CARD10
3 glaucoma 1, open angle, a 33.1 OPTN MYOC CYP1B1
4 early-onset glaucoma 32.9 MYOC CYP1B1
5 myopia 32.2 WDR36 TGFB2 SIX6 MYOC LTBP2 CRYAA
6 eye disease 31.8 TGFB2 OPTN MYOC CYP1B1 CRYAA ABCA4
7 macular degeneration, age-related, 1 31.5 TGFB2 MYOC LOXL1 ELN CRYAA ABCA4
8 intraocular pressure quantitative trait locus 31.4 WDR36 TMCO1 TGFB2 OPTN MYOC LTBP2
9 neovascular glaucoma 31.3 TGFB2 MYOC CRYAA
10 exfoliation syndrome 31.3 LTBP2 LOXL1 GSTM1 ELN
11 yemenite deaf-blind hypopigmentation syndrome 31.3 OPTN ABCA4
12 ocular hypertension 31.2 WDR36 TMCO1 TGFB2 OPTN MYOC CRYAA
13 leber hereditary optic neuropathy, modifier of 31.2 WDR36 MYOC CRYAA ABCA4
14 steroid-induced glaucoma 31.2 WDR36 TGFB2 MYOC ELN CYP1B1 CRYAA
15 open-angle glaucoma 31.1 WDR36 TMCO1 TGFB2 SIX6 OPTN MYOC
16 glaucoma-related pigment dispersion syndrome 31.1 WDR36 TMCO1 SIX6 OPTN MYOC LOXL1
17 corneal edema 31.1 MYOC LTBP2 CYP1B1
18 amyotrophic lateral sclerosis type 12 31.1 OPTN LOC108903148 CRYAA
19 chronic closed-angle glaucoma 31.1 TGFB2 MYOC LOXL1 CAV2
20 optic nerve disease 31.0 WDR36 OPTN MYOC ELN CRYAA
21 keratitis, hereditary 31.0 MYOC CYP1B1 CRYAA
22 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 31.0 OPTN LOC108903148
23 glaucoma 3, primary infantile, b 30.9 LTBP2 CYP1B1
24 optic nerve hypoplasia, bilateral 30.8 TMCO1 SRBD1 SIX6 MYOC ABCA4
25 primary congenital glaucoma 30.8 WDR36 OPTN MYOC LTBP2 LOXL1 CYP1B1
26 primary angle-closure glaucoma 30.8 OPTN MYOC CYP1B1
27 retinal disease 30.8 OPTN MYOC CRYAA ABCA4
28 pathologic nystagmus 30.7 SIX6 CRYAA ABCA4
29 cataract 30.7 TGFB2 SIX6 LOXL1 GSTM1 CRYAA
30 acute closed-angle glaucoma 30.7 OPTN MYOC CYP1B1
31 glaucoma, normal tension 30.5 WDR36 TMCO1 SRBD1 SIX6 OPTN MYOC
32 juvenile glaucoma 30.4 WDR36 OPTN MYOC LTBP2 LOXL1 CYP1B1
33 glaucoma 1, open angle, j 11.6
34 glaucoma 1, open angle, f 11.5
35 glaucoma 1, open angle, k 11.5
36 glaucoma 1, open angle, p 11.2
37 glaucoma 1, open angle, g 11.1
38 glaucoma 1, open angle, o 11.0
39 refractive error 10.8
40 senile cataract 10.6
41 neuropathy 10.6
42 3-methylglutaconic aciduria, type iii 10.6
43 retinal vascular disease 10.6
44 scotoma 10.6
45 microphthalmia, isolated 2 10.5 WDR36 MYOC CYP1B1
46 alzheimer disease 10.5
47 sleep apnea 10.5
48 47,xyy 10.5
49 excessive tearing 10.5 WDR36 MYOC LTBP2 CYP1B1
50 traumatic glaucoma 10.5 TMCO1 MYOC LTBP2 LOXL1 CYP1B1

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®:

57 (Updated 20-May-2021)
Eyes:
myopia
open angle glaucoma

Misc:
more frequent among african americans

Clinical features from OMIM®:

137760 (Updated 20-May-2021)

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 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
2
Brinzolamide Approved Phase 4 138890-62-7 68844
3
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Cefuroxime Approved Phase 4 55268-75-2 5361202 5479529
7
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
8
tannic acid Approved Phase 4 1401-55-4
9
Timolol Approved Phase 4 26839-75-8 33624 5478
10
Travoprost Approved Phase 4 157283-68-6 5282226
11
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
12
Maleic acid Experimental Phase 4 110-16-7 444266
13 Lubricant Eye Drops Phase 4
14 Dextrans Phase 4
15 Plasma Substitutes Phase 4
16 Blood Substitutes Phase 4
17 Anticoagulants Phase 4
18 Anti-Infective Agents Phase 4
19 Anti-Infective Agents, Local Phase 4
20 Benzalkonium Compounds Phase 4
21 Hormones Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Hormone Antagonists Phase 4
24 glucocorticoids Phase 4
25 Antineoplastic Agents, Hormonal Phase 4
26 Gastrointestinal Agents Phase 4
27 Antiemetics Phase 4
28 Anesthetics Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Adrenergic Agonists Phase 4
31 Brimonidine Tartrate Phase 4 70359-46-5
32 Carbonic Anhydrase Inhibitors Phase 4
33 cefuroxime axetil Phase 4
34 Anti-Arrhythmia Agents Phase 4
35 Pharmaceutical Solutions Phase 4
36 Adrenergic beta-Antagonists Phase 4
37 Adrenergic Antagonists Phase 4
38 Ophthalmic Solutions Phase 4
39 Neurotransmitter Agents Phase 4
40 Adrenergic Agents Phase 4
41 Antihypertensive Agents Phase 4
42
Adenosine Approved, Investigational Phase 3 58-61-7 60961
43
Papaverine Approved, Investigational Phase 2, Phase 3 58-74-2, 61-25-6 4680
44
Betaxolol Approved, Investigational Phase 3 659-18-7, 63659-18-7 2369
45
Moxaverine Investigational Phase 2, Phase 3 10539-19-2
46 Analgesics Phase 3
47 Vasodilator Agents Phase 3
48 Phosphodiesterase Inhibitors Phase 2, Phase 3
49 Parasympatholytics Phase 2, Phase 3
50 Adrenergic beta-1 Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 296)
# 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 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
3 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
4 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
5 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 Completed NCT02796560 Phase 4 Brand name travoprost;Generic travoprost
6 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
7 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
8 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%
9 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%
10 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
11 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
12 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%
13 Phase 4 Study to Evaluate Efficacy And Safety of Pneumatic Trabeculoplasty (PNT) in Subjects Affected by Primary Open Angle Glaucoma Completed NCT01540331 Phase 4
14 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
15 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
16 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)
17 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 Completed NCT02017327 Phase 4 Monoprost;Lumigan 0.01%;Lumigan 0.03% Unit Dose
18 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%
19 A Study of LUMIGAN® RC in the Clinical Setting Completed NCT01833741 Phase 4 Bimatoprost 0.01%
20 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
21 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%
22 Efficacy and Tolerability of Preservative-free 0.0015% Tafluprost in Glaucoma Patients Completed NCT03104621 Phase 4 Benzalkonium chloride (BAK);0.0015% tafluprost
23 Ocular Surface Conditions in Asian Glaucoma Patients With Existing Corneal Disorders Switching From Preserved Prostaglandin Analogues Monotherapy to Preservative-free Tafluprost Completed NCT04654611 Phase 4 preservative free tafluprost 0.0015%
24 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
25 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.
26 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%
27 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®)
28 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
29 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
30 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
31 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)
32 A Study of Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02061683 Phase 4 Bimatoprost 0.03%
33 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
34 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
35 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
36 A Study of 0.03% Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02020512 Phase 4 0.03% Bimatoprost
37 An Open, Non-randomized Study on the Effect of Changing From Preserved Prostaglandin Formulations to Preservative Free Tafluprost (Saflutan® Augentropfen) in Patients With Ocular Hypertension or Primary Open Angle Glaucoma on Tear Film Thickness Completed NCT03204487 Phase 4 Tafluprost 15µg/ml
38 Evaluation Of Intraocular Pressure Lowering-Effect Of Xalacom (Fixed Combination Of Latanoprost And Timolol) In Patients With Poag Or Oh. A 6-Month, Open, Multi-Center Trial In Italy Completed NCT00143208 Phase 4 Xalacom
39 Randomized, Controlled Treatment With an Intracanalicular Dexamethasone (0.4mg) Insert Following Cataract Surgery With IOL Combined With MIGS, Specifically iStent, iStent Inject or KDB in Patients With POAG or Ocular Hypertension (OHTN) Recruiting NCT04465864 Phase 4 Intracanalicular Dexamethasone, 0.4 mg insert
40 Efficacy and Safety of Latanoprost/Timolol Fixed Combination Dosed Twice Daily Compared to Once Daily in Patients With Primary Open Angle Glaucoma Recruiting NCT04098861 Phase 4 Latanoprost/Timolol
41 A Prospective Randomized Clinical Trial Comparing Three Delivery Methods of Mitomycin-C for Trabeculectomy Surgery: Preoperative Subconjunctival Injection, Intraoperative Subconjunctival Injection, and Topical Application (Conventional Use) During Trabeculectomy Surgery Recruiting NCT03875911 Phase 4 Mitomycin C
42 Comparing the Effectiveness of Phacoemulsification + ECP Laser and Phacoemulsification Alone for the Treatment of Open Angle Glaucoma in Patients With Cataract - a Randomised Controlled Trial Not yet recruiting NCT04295122 Phase 4
43 Phase IV Clinical Study to Compare the Efficacy of the Krytantek Ofteno PF® Plus Gaap Ofteno PF® Combination to the Krytantek Ofteno PF® Plus Gaap Ofteno PF® Combination, in Primary Open Angle Glaucoma or Ocular Hypertension Patients. Not yet recruiting NCT04702789 Phase 4 Dorzolamide-timolol-brimonidine and latanoprost;Dorzolamide-timolol and latanoprost
44 Efficacy of the Brand-name Latanoprost and One of Its Generic Version in Primary Open Angle Glaucoma and Ocular Hypertension Terminated NCT02047630 Phase 4 Generic latanoprost;Brand-name latanoprost
45 Study of Travatan and Cosopt in Primary Open-Angle Glaucoma or Ocular Hypertension Terminated NCT00471068 Phase 4 Travatan;Cosopt;Placebo (Timolol Vehicle)
46 A 8-Week, Randomized, Double-Masked, Parallel Group, Phase III Study Comparing The Efficacy And Safety Of Xalacom And Xalatan In Patients With Primary Open Angle Glaucoma (POAG) Or Ocular Hypertension (OH). Completed NCT00383019 Phase 3 Xalacom (KP2035);Xalatan
47 Phase III Multi-center, Randomized, Double-masked, Active- and Placebo-controlled Study of Trabodenoson in Adults With Ocular Hypertension or Primary Open-angle Glaucoma Completed NCT02565173 Phase 3 trabodenoson 4.5% BID;trabodenoson 6.0% QD;trabodenoson 3.0% QD;timolol 0.5% BID;placebo BID
48 Determination Of Predictive Factors Allowing To An Additional 10% Reduction Of Intra-Ocular Pressure After A 12-Week Treatment With Latanoprost 0.005% / Timolol 0.5% Fixed Combination (Xalacom) In Previously Treated Patients With Open Angle Glaucoma Or Ocular Hypertension Completed NCT00230763 Phase 3 LATANOPROST 0.005% / TIMOLOL 0.5% FIXED COMBINATION
49 A Phase II/III Randomized, Double-masked, Controlled, Parallel Group, Multicenter Study Assessing the Efficacy and Safety of DE-117 Ophthalmic Solution in Subjects With Primary Open Angle Glaucoma or Ocular Hypertension -AYAME Study- Completed NCT02623738 Phase 2, Phase 3 Placebo ophthalmic solution;DE-117 ophthalmic solution low;DE-117 ophthalmic solution high;Latanoprost ophthalmic solution 0.005%
50 A Phase III, Open-label, Single-arm, Multi-center Study Assessing the Safety and Efficacy of DE-117 Ophthalmic Solution in Subjects With Primary Open-angle Glaucoma or Ocular Hypertension Who Are Non-/Low-responders to Latanoprost Ophthalmic Solution: FUJI Study Completed NCT02822742 Phase 3 DE-117 ophthalmic solution;Latanoprost ophthalmic solution 0.005%

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, Endothelial, Retina, Brain, Heart, Kidney, Cortex
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 7545)
# Title Authors PMID Year
1
Adult-onset primary open-angle glaucoma caused by mutations in optineurin. 6 57 61
11834836 2002
2
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma. 6 61 54
20021252 2010
3
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma. 6 61
27896285 2016
4
Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. 61 6
22933836 2012
5
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma. 61 6
23304066 2012
6
Mutations of optineurin in amyotrophic lateral sclerosis. 6 61
20428114 2010
7
Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. 6 61
19172505 2009
8
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. 61 6
17615537 2007
9
Myocilin variants in Indian patients with open-angle glaucoma. 6 61
17562996 2007
10
Altered nitric oxide system in patients with open-angle glaucoma. 61 57
17420369 2007
11
Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma. 57 61
17325163 2007
12
Variation in optineurin (OPTN) allele frequencies between and within populations. 6 61
17293779 2007
13
Systemic reduction in glutathione levels occurs in patients with primary open-angle glaucoma. 57 61
15728543 2005
14
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 6 61
15342693 2004
15
Reduction of posterior pole retinal thickness in glaucoma detected using the Retinal Thickness Analyzer. 61 57
15019374 2004
16
Effects of TGF-beta2 in perfused human eyes. 57 61
14691167 2004
17
Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. 61 57
14691154 2004
18
Oxidative stress markers in aqueous humor of glaucoma patients. 57 61
14700645 2004
19
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. 6 61
12872267 2003
20
A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. 61 57
12616399 2003
21
Founder TIGR/myocilin mutations for glaucoma in the Québec population. 6 61
12189160 2002
22
MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. 6 61
11803488 2001
23
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. 61 6
11535458 2001
24
T cell subsets and sIL-2R/IL-2 levels in patients with glaucoma. 61 57
11292402 2001
25
Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients. 61 57
11129344 2000
26
Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. 6 61
10815160 2000
27
Genome-wide scan for adult onset primary open angle glaucoma. 57 61
10767336 2000
28
Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families. 61 57
9748694 1998
29
A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. 6 61
9639450 1998
30
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. 57 61
9497264 1998
31
Recent advances in molecular genetics of glaucomas. 61 57
9300658 1997
32
Models of open-angle glaucoma prevalence and incidence in the United States. 57 61
9008633 1997
33
Identification of a gene that causes primary open angle glaucoma. 61 6
9005853 1997
34
The distinction between juvenile and adult-onset primary open-angle glaucoma. 61 57
8554064 1996
35
Genetic defect in cortisol metabolism in primary open angle glaucoma. 61 57
3842204 1985
36
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. 6
26740678 2016
37
Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma. 57
25819459 2015
38
Prevention of nocturnal elevation of intraocular pressure by gene transfer of dominant-negative RhoA in rats. 57
25412195 2015
39
Cellular processing of myocilin. 6
24732711 2014
40
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. 57
21532571 2011
41
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 6
18470941 2008
42
Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin. 6
19023451 2008
43
Prostaglandins increase trabecular meshwork outflow facility in cultured human anterior segments. 57
17988642 2008
44
Global changes in optic nerve head gene expression after exposure to elevated intraocular pressure in a rat glaucoma model. 57
17591886 2007
45
Presence of an established calcification marker in trabecular meshwork tissue of glaucoma donors. 57
17591888 2007
46
Heritable features of the optic disc: a novel twin method for determining genetic significance. 57
17525172 2007
47
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants. 57
17389490 2007
48
High myopia and glaucoma susceptibility the Beijing Eye Study. 57
17123613 2007
49
Endothelin B receptor in human glaucoma and experimentally induced optic nerve damage. 57
16682595 2006
50
Model of endothelin-1-induced chronic optic neuropathy in rat. 57
14691166 2004

Variations for Glaucoma, Primary Open Angle

ClinVar genetic disease variations for Glaucoma, Primary Open Angle:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC108903148 , OPTN NM_001008212.2(OPTN):c.148G>A (p.Glu50Lys) SNV Pathogenic 7096 rs28939688 GRCh37: 10:13151270-13151270
GRCh38: 10:13109270-13109270
2 OPTN OPTN, 2-BP INS, 691AG Insertion Pathogenic 7097 GRCh37:
GRCh38:
3 OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) SNV Pathogenic 7098 rs75654767 GRCh37: 10:13178766-13178766
GRCh38: 10:13136766-13136766
4 LOC108903148 , OPTN NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) SNV Pathogenic 7099 rs11258194 GRCh37: 10:13152400-13152400
GRCh38: 10:13110400-13110400
5 MYOC NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) SNV Pathogenic 242274 rs878854408 GRCh37: 1:171605469-171605469
GRCh38: 1:171636329-171636329
6 LOC108903148 , OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) Duplication Pathogenic 576203 rs1564354968 GRCh37: 10:13151279-13151280
GRCh38: 10:13109279-13109280
7 overlap with 4 genes NC_000010.11:g.(?_13109123)_(13183100_?)del Deletion Pathogenic 583651 GRCh37: 10:13151123-13225100
GRCh38: 10:13109123-13183100
8 overlap with 3 genes NC_000010.10:g.(?_12833157)_(13178866_?)del Deletion Pathogenic 584050 GRCh37: 10:12833157-13178866
GRCh38:
9 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) Insertion Pathogenic 647662 rs774258585 GRCh37: 10:13154464-13154465
GRCh38: 10:13112464-13112465
10 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del Deletion Pathogenic 831344 GRCh37: 10:13158257-13158350
GRCh38:
11 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)del Deletion Pathogenic 832940 GRCh37: 10:13151113-13154645
GRCh38:
12 OPTN and overlap with 2 gene(s) NC_000010.11:g.(?_13109103)_(13136886_?)del Deletion Pathogenic 529764 GRCh37: 10:13151103-13178886
GRCh38: 10:13109103-13136886
13 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) SNV Pathogenic 7744 rs9282671 GRCh37: 2:38302291-38302291
GRCh38: 2:38075148-38075148
14 CARD10 NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp) SNV risk factor 224915 rs750643216 GRCh37: 22:37902372-37902372
GRCh38: 22:37506365-37506365
15 CARD10 NM_014550.4(CARD10):c.635G>A (p.Arg212His) SNV risk factor 224912 rs1057519378 GRCh37: 22:37912044-37912044
GRCh38: 22:37516037-37516037
16 CARD10 NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp) SNV risk factor 224916 rs201794655 GRCh37: 22:37888801-37888801
GRCh38: 22:37492794-37492794
17 CARD10 NM_014550.4(CARD10):c.983C>T (p.Ala328Val) SNV risk factor 224913 rs139006752 GRCh37: 22:37904616-37904616
GRCh38: 22:37508609-37508609
18 CARD10 NM_014550.4(CARD10):c.1024G>A (p.Val342Met) SNV risk factor 224914 rs200148764 GRCh37: 22:37904575-37904575
GRCh38: 22:37508568-37508568
19 LTBP2 NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) SNV Likely pathogenic 126950 rs137854858 GRCh37: 14:75017969-75017969
GRCh38: 14:74551266-74551266
20 LTBP2 NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) SNV Likely pathogenic 126954 rs137854862 GRCh37: 14:74975388-74975388
GRCh38: 14:74508685-74508685
21 LTBP2 NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) SNV Likely pathogenic 126955 rs137854863 GRCh37: 14:74971805-74971805
GRCh38: 14:74505102-74505102
22 LTBP2 NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) SNV Likely pathogenic 126958 rs137854860 GRCh37: 14:74969614-74969614
GRCh38: 14:74502911-74502911
23 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
24 OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) SNV Conflicting interpretations of pathogenicity 7098 rs75654767 GRCh37: 10:13178766-13178766
GRCh38: 10:13136766-13136766
25 OPTN NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) SNV Uncertain significance 299211 rs757411888 GRCh37: 10:13154508-13154508
GRCh38: 10:13112508-13112508
26 OPTN NM_001008212.2(OPTN):c.*461G>A SNV Uncertain significance 299230 rs541250740 GRCh37: 10:13179327-13179327
GRCh38: 10:13137327-13137327
27 WDR36 NM_139281.2(WDR36):c.*1044_*1045insG Insertion Uncertain significance 350361 rs886059770 GRCh37: 5:110463625-110463626
GRCh38: 5:111127927-111127928
28 OPTN NM_001008212.2(OPTN):c.*1089G>A SNV Uncertain significance 299235 rs758812707 GRCh37: 10:13179955-13179955
GRCh38: 10:13137955-13137955
29 LOC108903148 , OPTN NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) SNV Uncertain significance 299209 rs756622651 GRCh37: 10:13152354-13152354
GRCh38: 10:13110354-13110354
30 OPTN NM_001008212.2(OPTN):c.1243-13G>A SNV Uncertain significance 299219 rs374144660 GRCh37: 10:13169732-13169732
GRCh38: 10:13127732-13127732
31 WDR36 NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATA Indel Uncertain significance 350323 rs886059764 GRCh37: 5:110448753-110448759
GRCh38: 5:111113054-111113060
32 OPTN NM_001008212.2(OPTN):c.-272G>T SNV Uncertain significance 299204 rs886046817 GRCh37: 10:13142194-13142194
GRCh38: 10:13100194-13100194
33 WDR36 NM_139281.2(WDR36):c.*3598_*3602del Deletion Uncertain significance 350407 rs886059792 GRCh37: 5:110466176-110466180
GRCh38: 5:111130478-111130482
34 OPTN NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) SNV Uncertain significance 299220 rs886046821 GRCh37: 10:13174092-13174092
GRCh38: 10:13132092-13132092
35 OPTN NM_001008212.2(OPTN):c.*1042T>G SNV Uncertain significance 299233 rs886046827 GRCh37: 10:13179908-13179908
GRCh38: 10:13137908-13137908
36 OPTN NM_001008212.2(OPTN):c.*152G>T SNV Uncertain significance 299224 rs886046823 GRCh37: 10:13179018-13179018
GRCh38: 10:13137018-13137018
37 OPTN NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) SNV Uncertain significance 299217 rs886046820 GRCh37: 10:13166073-13166073
GRCh38: 10:13124073-13124073
38 WDR36 NM_139281.2(WDR36):c.1810A>G (p.Ile604Val) SNV Uncertain significance 350319 rs34661294 GRCh37: 5:110446903-110446903
GRCh38: 5:111111204-111111204
39 OPTN NM_001008212.2(OPTN):c.*413G>A SNV Uncertain significance 299229 rs886046825 GRCh37: 10:13179279-13179279
GRCh38: 10:13137279-13137279
40 WDR36 NM_139281.2(WDR36):c.*1061del Deletion Uncertain significance 350363 rs886059771 GRCh37: 5:110463641-110463641
GRCh38: 5:111127943-111127943
41 OPTN NM_001008212.2(OPTN):c.-250C>A SNV Uncertain significance 299206 rs886046818 GRCh37: 10:13142216-13142216
GRCh38: 10:13100216-13100216
42 WDR36 NM_139281.2(WDR36):c.*2644del Deletion Uncertain significance 350391 rs747448169 GRCh37: 5:110465224-110465224
GRCh38: 5:111129526-111129526
43 WDR36 NM_139281.2(WDR36):c.*2282_*2284delCTT Microsatellite Uncertain significance 350385 rs886059780 GRCh37: 5:110464860-110464862
GRCh38: 5:111129162-111129164
44 OPTN NM_001008212.2(OPTN):c.*306G>A SNV Uncertain significance 299227 rs538280633 GRCh37: 10:13179172-13179172
GRCh38: 10:13137172-13137172
45 WDR36 NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATATA Indel Uncertain significance 350324 rs886059764 GRCh37: 5:110448753-110448759
GRCh38: 5:111113054-111113060
46 WDR36 NM_139281.2(WDR36):c.2706+8_2706+11dup Duplication Uncertain significance 350336 rs886059766 GRCh37: 5:110461500-110461501
GRCh38: 5:111125802-111125803
47 OPTN NM_001008212.2(OPTN):c.441G>A (p.Val147=) SNV Uncertain significance 299212 rs886046819 GRCh37: 10:13154524-13154524
GRCh38: 10:13112524-13112524
48 OPTN NM_001008212.2(OPTN):c.*1385T>C SNV Uncertain significance 299238 rs546352206 GRCh37: 10:13180251-13180251
GRCh38: 10:13138251-13138251
49 WDR36 NM_139281.2(WDR36):c.*1040_*1050del Deletion Uncertain significance 350359 rs532039350 GRCh37: 5:110463617-110463627
GRCh38: 5:111127919-111127929
50 OPTN NM_001008212.2(OPTN):c.*1285T>C SNV Uncertain significance 299237 rs560947786 GRCh37: 10:13180151-13180151
GRCh38: 10:13138151-13138151

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

72
# 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 collagen fibril organization GO:0030199 9.13 TGFB2 LOXL1 CYP1B1
2 visual perception GO:0007601 9.02 WDR36 SIX6 CYP1B1 CRYAA ABCA4

Sources for Glaucoma, Primary Open Angle

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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