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Primary open angle glaucoma(POAG)

MedGen UID:
87389
Concept ID:
C0339573
Disease or Syndrome
Synonyms: OPTN-related open angle glaucoma; POAG
SNOMED CT: Primary open angle glaucoma (77075001); Chronic simple glaucoma (77075001); Primary open-angle glaucoma (77075001); POAG - Primary open-angle glaucoma (77075001); CSG - Chronic simple glaucoma (77075001); COAG - Chronic open-angle glaucoma (77075001)
 
Gene (location): OPTN (10p13)
 
Monarch Initiative: MONDO:0100553
OMIM®: 137760

Definition

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. Genetic Heterogeneity of Primary Open Angle Glaucoma Other forms of primary open angle glaucoma include GLC1A (137750), caused by mutation in the MYOC gene (601652) on chromosome 1q24; GLC1B (606689) on chromosome 2cen-q13; GLC1C (601682) on chromosome 3q21-q24; GLC1D (602429) on chromosome 8q23; GLC1F (603383), caused by mutation in the ASB10 gene (615054) on chromosome 7q36; GLC1G (609887), caused by mutation in the WDR36 gene (609669) on chromosome 5q22; GLC1H (611276), caused by mutation in the EFEMP1 gene (601548) on chromosome 2p16; GLC1I (609745) on chromosome 15q11-q13; GLC1J (608695) on chromosome 9q22; GLC1K (608696) on chromosome 20p12; GLC1L (see 137750) on chromosome 3p22-p21; GLC1M (610535) on chromosome 5q22; GLC1N (611274) on chromosome 15q22-q24; GLC1O (613100), caused by mutation in the NTF4 gene (162662) on chromosome 19q13; GLC1P (177700), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (604834). Nail-patella syndrome (NPS; 161200), which is caused by mutation in the LMX1B gene (602575) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of Glaucoma For a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (231300). See 606657 for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG. See 618880 for a discussion of primary closed-angle glaucoma. [from OMIM]

Clinical features

From HPO
Open-angle glaucoma
MedGen UID:
6611
Concept ID:
C0017612
Disease or Syndrome
A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Professional guidelines

PubMed

Michels TC, Ivan O
Am Fam Physician 2023 Mar;107(3):253-262. PMID: 36920817
Gedde SJ, Vinod K, Wright MM, Muir KW, Lind JT, Chen PP, Li T, Mansberger SL; American Academy of Ophthalmology Preferred Practice Pattern Glaucoma Panel
Ophthalmology 2021 Jan;128(1):P71-P150. Epub 2020 Nov 12 doi: 10.1016/j.ophtha.2020.10.022. PMID: 34933745
Miller MA, Fingert JH, Bettis DI
Curr Opin Ophthalmol 2017 Mar;28(2):133-138. doi: 10.1097/ICU.0000000000000344. PMID: 27898466

Curated

UK NICE Guideline NG81, Glaucoma: diagnosis and management

Recent clinical studies

Etiology

Li X, Cheng S, Cheng J, Wang M, Zhong Y, Yu AY
Ophthalmology 2022 Sep;129(9):1014-1021. Epub 2022 May 10 doi: 10.1016/j.ophtha.2022.04.027. PMID: 35537532
Phu J, Agar A, Wang H, Masselos K, Kalloniatis M
Clin Exp Optom 2021 Apr;104(3):367-384. Epub 2021 Mar 29 doi: 10.1111/cxo.13114. PMID: 32808337
Sakurada Y, Mabuchi F, Kashiwagi K
Prog Brain Res 2020;256(1):31-47. Epub 2020 Jul 1 doi: 10.1016/bs.pbr.2020.06.001. PMID: 32958214
Trivli A, Zervou MI, Goulielmos GN, Spandidos DA, Detorakis ET
Mol Med Rep 2020 Aug;22(2):1103-1110. Epub 2020 Jun 9 doi: 10.3892/mmr.2020.11215. PMID: 32626970Free PMC Article
Sakurada Y, Mabuchi F
Prog Brain Res 2015;220:107-26. Epub 2015 Jul 2 doi: 10.1016/bs.pbr.2015.04.006. PMID: 26497787

Diagnosis

Rivera SS, Radunzel N, Boese EA
JAMA Ophthalmol 2023 Nov 1;141(11):e232949. Epub 2023 Nov 16 doi: 10.1001/jamaophthalmol.2023.2949. PMID: 37971506
Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
Li X, Cheng S, Cheng J, Wang M, Zhong Y, Yu AY
Ophthalmology 2022 Sep;129(9):1014-1021. Epub 2022 May 10 doi: 10.1016/j.ophtha.2022.04.027. PMID: 35537532
Sakurada Y, Mabuchi F, Kashiwagi K
Prog Brain Res 2020;256(1):31-47. Epub 2020 Jul 1 doi: 10.1016/bs.pbr.2020.06.001. PMID: 32958214
Weinreb RN, Khaw PT
Lancet 2004 May 22;363(9422):1711-20. doi: 10.1016/S0140-6736(04)16257-0. PMID: 15158634

Therapy

Li X, Cheng S, Cheng J, Wang M, Zhong Y, Yu AY
Ophthalmology 2022 Sep;129(9):1014-1021. Epub 2022 May 10 doi: 10.1016/j.ophtha.2022.04.027. PMID: 35537532
Sihota R, Angmo D, Ramaswamy D, Dada T
Indian J Ophthalmol 2018 Apr;66(4):495-505. doi: 10.4103/ijo.IJO_1130_17. PMID: 29582808Free PMC Article
Gazzard G, Konstantakopoulou E, Garway-Heath D, Barton K, Wormald R, Morris S, Hunter R, Rubin G, Buszewicz M, Ambler G, Bunce C; LiGHT Trial Study Group
Br J Ophthalmol 2018 May;102(5):593-598. Epub 2017 Sep 13 doi: 10.1136/bjophthalmol-2017-310877. PMID: 28903966
Li T, Lindsley K, Rouse B, Hong H, Shi Q, Friedman DS, Wormald R, Dickersin K
Ophthalmology 2016 Jan;123(1):129-40. Epub 2015 Oct 31 doi: 10.1016/j.ophtha.2015.09.005. PMID: 26526633Free PMC Article
Kass MA, Heuer DK, Higginbotham EJ, Johnson CA, Keltner JL, Miller JP, Parrish RK 2nd, Wilson MR, Gordon MO
Arch Ophthalmol 2002 Jun;120(6):701-13; discussion 829-30. doi: 10.1001/archopht.120.6.701. PMID: 12049574

Prognosis

Zeleznik OA, Kang JH, Lasky-Su J, Eliassen AH, Frueh L, Clish CB, Rosner BA, Elze T, Hysi P, Khawaja A, Wiggs JL, Pasquale LR; UK Biobank Eye and Vision Consortium
Nat Commun 2023 May 19;14(1):2860. doi: 10.1038/s41467-023-38466-w. PMID: 37208353Free PMC Article
Pan CW, Ke C, Chen Q, Tao YJ, Zha X, Zhang YP, Zhong H
BMC Ophthalmol 2020 May 6;20(1):183. doi: 10.1186/s12886-020-01452-7. PMID: 32375707Free PMC Article
Jasty U, Harris A, Siesky B, Rowe LW, Verticchio Vercellin AC, Mathew S, Pasquale LR
Br J Ophthalmol 2020 Nov;104(11):1488-1491. Epub 2020 Feb 18 doi: 10.1136/bjophthalmol-2019-314583. PMID: 32071036
Zhao D, Cho J, Kim MH, Guallar E
Am J Ophthalmol 2014 Sep;158(3):615-27.e9. Epub 2014 May 28 doi: 10.1016/j.ajo.2014.05.029. PMID: 24879946
Kass MA, Heuer DK, Higginbotham EJ, Johnson CA, Keltner JL, Miller JP, Parrish RK 2nd, Wilson MR, Gordon MO
Arch Ophthalmol 2002 Jun;120(6):701-13; discussion 829-30. doi: 10.1001/archopht.120.6.701. PMID: 12049574

Clinical prediction guides

Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
Cooke Bailey JN, Funk KL, Cruz LA, Waksmunski AR, Kinzy TG, Wiggs JL, Hauser MA
Genes (Basel) 2022 Dec 30;14(1) doi: 10.3390/genes14010111. PMID: 36672852Free PMC Article
Li X, Cheng S, Cheng J, Wang M, Zhong Y, Yu AY
Ophthalmology 2022 Sep;129(9):1014-1021. Epub 2022 May 10 doi: 10.1016/j.ophtha.2022.04.027. PMID: 35537532
Baudouin C, Kolko M, Melik-Parsadaniantz S, Messmer EM
Prog Retin Eye Res 2021 Jul;83:100916. Epub 2020 Oct 17 doi: 10.1016/j.preteyeres.2020.100916. PMID: 33075485
Sakurada Y, Mabuchi F, Kashiwagi K
Prog Brain Res 2020;256(1):31-47. Epub 2020 Jul 1 doi: 10.1016/bs.pbr.2020.06.001. PMID: 32958214

Recent systematic reviews

Clement Freiberg J, von Spreckelsen A, Kolko M, Azuara-Blanco A, Virgili G
Cochrane Database Syst Rev 2022 Jun 10;6(6):CD013817. doi: 10.1002/14651858.CD013817.pub2. PMID: 35686679Free PMC Article
Lavia C, Dallorto L, Maule M, Ceccarelli M, Fea AM
PLoS One 2017;12(8):e0183142. Epub 2017 Aug 29 doi: 10.1371/journal.pone.0183142. PMID: 28850575Free PMC Article
Li T, Lindsley K, Rouse B, Hong H, Shi Q, Friedman DS, Wormald R, Dickersin K
Ophthalmology 2016 Jan;123(1):129-40. Epub 2015 Oct 31 doi: 10.1016/j.ophtha.2015.09.005. PMID: 26526633Free PMC Article
Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY
Ophthalmology 2014 Nov;121(11):2081-90. Epub 2014 Jun 26 doi: 10.1016/j.ophtha.2014.05.013. PMID: 24974815
Shah R, Wormald RP
BMJ Clin Evid 2011 Jun 9;2011 PMID: 21658300Free PMC Article

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG81, Glaucoma: diagnosis and management

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