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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); COAG - chronic open-angle glaucoma (77075001); CSG - chronic simple glaucoma (77075001); POAG - primary 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
Aptel F, Bron AM, Lachkar Y, Schweitzer C
J Glaucoma 2017 Oct;26(10):875-880. doi: 10.1097/IJG.0000000000000748. PMID: 28834827

Curated

UK NICE Guideline NG81, Glaucoma: diagnosis and management

Recent clinical studies

Etiology

Un Y, Imamoglu S
Int Ophthalmol 2024 Feb 7;44(1):25. doi: 10.1007/s10792-024-02918-z. PMID: 38326580
Molero-Senosiain M, Morales-Fernandez L, Saenz-Frances F, Kwan J, Garcia Feijoo J, Martínez-de-la-Casa JM
J Fr Ophtalmol 2023 Mar;46(3):249-257. Epub 2023 Feb 2 doi: 10.1016/j.jfo.2022.08.013. PMID: 36739259
Senthilkumar VA, Kumar MR, Wijesinghe HK, Uduman MS, Krishna SM, Odayappan A, Puthuran GV
Indian J Ophthalmol 2022 Sep;70(9):3322-3327. doi: 10.4103/ijo.IJO_856_22. PMID: 36018113Free PMC Article
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
Chiquet C, Gavard O, Arnould L, Mautuit T, Macgillivray TJ, Bron AM, Semecas R, Trucco E, Florent A
Acta Ophthalmol 2020 Feb;98(1):e88-e93. Epub 2019 Jul 29 doi: 10.1111/aos.14192. PMID: 31359603

Diagnosis

Ulhaq ZS, Istifiani LA, Pamungkas SA
J Fr Ophtalmol 2023 Jun;46(6):622-629. Epub 2023 Apr 22 doi: 10.1016/j.jfo.2022.11.022. PMID: 37095023
Eslami Y, Ghods S, Mohammadi M, Safizadeh M, Fakhraie G, Zarei R, Vahedian Z, Tabatabaei SM
Int Ophthalmol 2022 Dec;42(12):3645-3659. Epub 2022 May 17 doi: 10.1007/s10792-022-02360-z. PMID: 35579770
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
Fotesko K, Thomsen BSV, Kolko M, Vohra R
Cell Mol Neurobiol 2022 Jan;42(1):41-57. Epub 2020 Oct 11 doi: 10.1007/s10571-020-00965-5. PMID: 33040237
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
Khatib TZ, Martin KR
Curr Eye Res 2020 Mar;45(3):327-338. Epub 2019 Sep 16 doi: 10.1080/02713683.2019.1663385. PMID: 31475591
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
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

Un Y, Imamoglu S
Int Ophthalmol 2024 Feb 7;44(1):25. doi: 10.1007/s10792-024-02918-z. PMID: 38326580
Chiquet C, Gavard O, Arnould L, Mautuit T, Macgillivray TJ, Bron AM, Semecas R, Trucco E, Florent A
Acta Ophthalmol 2020 Feb;98(1):e88-e93. Epub 2019 Jul 29 doi: 10.1111/aos.14192. PMID: 31359603
Khachatryan N, Pistilli M, Maguire MG, Salowe RJ, Fertig RM, Moore T, Gudiseva HV, Chavali VRM, Collins DW, Daniel E, Murphy W, Henderer JD, Lehman A, Cui Q, Addis V, Sankar PS, Miller-Ellis EG, O'Brien JM
PLoS One 2019;14(8):e0218804. Epub 2019 Aug 1 doi: 10.1371/journal.pone.0218804. PMID: 31369581Free PMC Article
Smith BL, Ellyson AC, Kim WI
Mil Med 2018 Mar 1;183(suppl_1):146-149. doi: 10.1093/milmed/usx174. PMID: 29635580
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

Verma SS, Gudiseva HV, Chavali VRM, Salowe RJ, Bradford Y, Guare L, Lucas A, Collins DW, Vrathasha V, Nair RM, Rathi S, Zhao B, He J, Lee R, Zenebe-Gete S, Bowman AS, McHugh CP, Zody MC, Pistilli M, Khachatryan N, Daniel E, Murphy W, Henderer J; Regeneron Genetics Center, Kinzy TG, Iyengar SK, Peachey NS; VA Million Veteran Program, Taylor KD, Guo X, Chen YI, Zangwill L, Girkin C, Ayyagari R, Liebmann J, Chuka-Okosa CM, Williams SE, Akafo S, Budenz DL, Olawoye OO, Ramsay M, Ashaye A, Akpa OM, Aung T, Wiggs JL, Ross AG, Cui QN, Addis V, Lehman A, Miller-Ellis E, Sankar PS, Williams SM, Ying GS, Cooke Bailey J, Rotter JI, Weinreb R, Khor CC, Hauser MA, Ritchie MD, O'Brien JM
Cell 2024 Jan 18;187(2):464-480.e10. doi: 10.1016/j.cell.2023.12.006. PMID: 38242088
Ulhaq ZS, Istifiani LA, Pamungkas SA
J Fr Ophtalmol 2023 Jun;46(6):622-629. Epub 2023 Apr 22 doi: 10.1016/j.jfo.2022.11.022. PMID: 37095023
Sung MS, Ji YS, Heo H, Park SW
J Glaucoma 2022 Jul 1;31(7):574-583. Epub 2022 May 16 doi: 10.1097/IJG.0000000000002053. PMID: 35583511
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

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
Cheng JW, Cheng SW, Ma XY, Cai JP, Li Y, Lu GC, Wei RL
PLoS One 2012;7(9):e46632. Epub 2012 Sep 28 doi: 10.1371/journal.pone.0046632. PMID: 23029558Free 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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