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Myopia 27(MYP27)

MedGen UID:
1719756
•Concept ID:
C5394215
•
Disease or Syndrome
Synonym: MYOPIA 27, AUTOSOMAL DOMINANT
 
Gene (location): CPSF1 (8q24.3)
 
Monarch Initiative: MONDO:0032941
OMIM®: 618827

Definition

Myopia-27 (MYP27) is characterized by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina (Ouyang et al., 2019). [from OMIM]

Clinical features

From HPO
High myopia
MedGen UID:
78759
•Concept ID:
C0271183
•
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
See: Feature record | Search on this feature
Increased axial length of the globe
MedGen UID:
320525
•Concept ID:
C1835117
•
Finding
Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Trends in myopia management attitudes and strategies in clinical practice: Survey of eye care practitioners in Africa.
Nti AN, Owusu-Afriyie B, Osuagwu UL, Kyei S, Ovenseri-Ogbomo G, Ogbuehi KC, Ouzzani M, Agho KE, Mashige KP, Ekure E, Ekpenyong BN, Ocansey S, Ndep AO, Obinwanne CJ, Berntsen DA, Wolffsohn JS, Naidoo KS
Cont Lens Anterior Eye 2023 Feb;46(1):101597. Epub 2022 Apr 12 doi: 10.1016/j.clae.2022.101597. PMID: 35428590
Risk factors for myopic choroidal neovascularization-related macular atrophy after anti-VEGF treatment.
Bae KW, Kim DI, Kim BH, Oh BL, Lee EK, Yoon CK, Park UC
PLoS One 2022;17(9):e0273613. Epub 2022 Sep 22 doi: 10.1371/journal.pone.0273613. PMID: 36137056Free PMC Article
Fixation stability improvement after occlusion treatment for severe amblyopia.
Wang S, Zou L, Tian T, Zhan A, Liu Y, Wen W, Liu H
Int Ophthalmol 2022 Mar;42(3):1007-1012. Epub 2021 Oct 19 doi: 10.1007/s10792-021-02084-6. PMID: 34668103

Recent clinical studies

Etiology

Degree of Myopia and Glaucoma Risk: A Dose-Response Meta-analysis.
Ha A, Kim CY, Shim SR, Chang IB, Kim YK
Am J Ophthalmol 2022 Apr;236:107-119. Epub 2021 Oct 11 doi: 10.1016/j.ajo.2021.10.007. PMID: 34648776
Progression of Myopia in School-Aged Children After COVID-19 Home Confinement.
Wang J, Li Y, Musch DC, Wei N, Qi X, Ding G, Li X, Li J, Song L, Zhang Y, Ning Y, Zeng X, Hua N, Li S, Qian X
JAMA Ophthalmol 2021 Mar 1;139(3):293-300. doi: 10.1001/jamaophthalmol.2020.6239. PMID: 33443542Free PMC Article
A review on the epidemiology of myopia in school children worldwide.
Grzybowski A, Kanclerz P, Tsubota K, Lanca C, Saw SM
BMC Ophthalmol 2020 Jan 14;20(1):27. doi: 10.1186/s12886-019-1220-0. PMID: 31937276Free PMC Article
Education and myopia: assessing the direction of causality by mendelian randomisation.
Mountjoy E, Davies NM, Plotnikov D, Smith GD, Rodriguez S, Williams CE, Guggenheim JA, Atan D
BMJ 2018 Jun 6;361:k2022. doi: 10.1136/bmj.k2022. PMID: 29875094Free PMC Article
Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050.
Holden BA, Fricke TR, Wilson DA, Jong M, Naidoo KS, Sankaridurg P, Wong TY, Naduvilath TJ, Resnikoff S
Ophthalmology 2016 May;123(5):1036-42. Epub 2016 Feb 11 doi: 10.1016/j.ophtha.2016.01.006. PMID: 26875007

Diagnosis

Efficacy Comparison of Repeated Low-Level Red Light and Low-Dose Atropine for Myopia Control: A Randomized Controlled Trial.
Chen Y, Xiong R, Chen X, Zhang J, Bulloch G, Lin X, Wu X, Li J
Transl Vis Sci Technol 2022 Oct 3;11(10):33. doi: 10.1167/tvst.11.10.33. PMID: 36269184Free PMC Article
Continued Increase of Axial Length and Its Risk Factors in Adults With High Myopia.
Du R, Xie S, Igarashi-Yokoi T, Watanabe T, Uramoto K, Takahashi H, Nakao N, Yoshida T, Fang Y, Ohno-Matsui K
JAMA Ophthalmol 2021 Oct 1;139(10):1096-1103. doi: 10.1001/jamaophthalmol.2021.3303. PMID: 34436537Free PMC Article
Progression of Myopia in School-Aged Children After COVID-19 Home Confinement.
Wang J, Li Y, Musch DC, Wei N, Qi X, Ding G, Li X, Li J, Song L, Zhang Y, Ning Y, Zeng X, Hua N, Li S, Qian X
JAMA Ophthalmol 2021 Mar 1;139(3):293-300. doi: 10.1001/jamaophthalmol.2020.6239. PMID: 33443542Free PMC Article
Education and myopia: assessing the direction of causality by mendelian randomisation.
Mountjoy E, Davies NM, Plotnikov D, Smith GD, Rodriguez S, Williams CE, Guggenheim JA, Atan D
BMJ 2018 Jun 6;361:k2022. doi: 10.1136/bmj.k2022. PMID: 29875094Free PMC Article
Update on myopia.
Warner N
Curr Opin Ophthalmol 2016 Sep;27(5):402-6. doi: 10.1097/ICU.0000000000000292. PMID: 27228418

Therapy

Interventions for myopia control in children: a living systematic review and network meta-analysis.
Lawrenson JG, Shah R, Huntjens B, Downie LE, Virgili G, Dhakal R, Verkicharla PK, Li D, Mavi S, Kernohan A, Li T, Walline JJ
Cochrane Database Syst Rev 2023 Feb 16;2(2):CD014758. doi: 10.1002/14651858.CD014758.pub2. PMID: 36809645Free PMC Article
Myopia and Near Work: A Systematic Review and Meta-Analysis.
Dutheil F, Oueslati T, Delamarre L, Castanon J, Maurin C, Chiambaretta F, Baker JS, Ugbolue UC, Zak M, Lakbar I, Pereira B, Navel V
Int J Environ Res Public Health 2023 Jan 3;20(1) doi: 10.3390/ijerph20010875. PMID: 36613196Free PMC Article
Efficacy and Safety of 8 Atropine Concentrations for Myopia Control in Children: A Network Meta-Analysis.
Ha A, Kim SJ, Shim SR, Kim YK, Jung JH
Ophthalmology 2022 Mar;129(3):322-333. Epub 2021 Oct 22 doi: 10.1016/j.ophtha.2021.10.016. PMID: 34688698
Degree of Myopia and Glaucoma Risk: A Dose-Response Meta-analysis.
Ha A, Kim CY, Shim SR, Chang IB, Kim YK
Am J Ophthalmol 2022 Apr;236:107-119. Epub 2021 Oct 11 doi: 10.1016/j.ajo.2021.10.007. PMID: 34648776
Association between digital smart device use and myopia: a systematic review and meta-analysis.
Foreman J, Salim AT, Praveen A, Fonseka D, Ting DSW, Guang He M, Bourne RRA, Crowston J, Wong TY, Dirani M
Lancet Digit Health 2021 Dec;3(12):e806-e818. Epub 2021 Oct 5 doi: 10.1016/S2589-7500(21)00135-7. PMID: 34625399

Prognosis

Myopia control effect of defocus incorporated multiple segments (DIMS) spectacle lens in Chinese children: results of a 3-year follow-up study.
Lam CS, Tang WC, Lee PH, Zhang HY, Qi H, Hasegawa K, To CH
Br J Ophthalmol 2022 Aug;106(8):1110-1114. Epub 2021 Mar 17 doi: 10.1136/bjophthalmol-2020-317664. PMID: 33731364Free PMC Article
Defocus Incorporated Multiple Segments (DIMS) spectacle lenses slow myopia progression: a 2-year randomised clinical trial.
Lam CSY, Tang WC, Tse DY, Lee RPK, Chun RKM, Hasegawa K, Qi H, Hatanaka T, To CH
Br J Ophthalmol 2020 Mar;104(3):363-368. Epub 2019 May 29 doi: 10.1136/bjophthalmol-2018-313739. PMID: 31142465Free PMC Article
A 3-year Randomized Clinical Trial of MiSight Lenses for Myopia Control.
Chamberlain P, Peixoto-de-Matos SC, Logan NS, Ngo C, Jones D, Young G
Optom Vis Sci 2019 Aug;96(8):556-567. doi: 10.1097/OPX.0000000000001410. PMID: 31343513
Myopia Prevention and Outdoor Light Intensity in a School-Based Cluster Randomized Trial.
Wu PC, Chen CT, Lin KK, Sun CC, Kuo CN, Huang HM, Poon YC, Yang ML, Chen CY, Huang JC, Wu PC, Yang IH, Yu HJ, Fang PC, Tsai CL, Chiou ST, Yang YH
Ophthalmology 2018 Aug;125(8):1239-1250. Epub 2018 Jan 19 doi: 10.1016/j.ophtha.2017.12.011. PMID: 29371008
Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050.
Holden BA, Fricke TR, Wilson DA, Jong M, Naidoo KS, Sankaridurg P, Wong TY, Naduvilath TJ, Resnikoff S
Ophthalmology 2016 May;123(5):1036-42. Epub 2016 Feb 11 doi: 10.1016/j.ophtha.2016.01.006. PMID: 26875007

Clinical prediction guides

Time Outdoors in Reducing Myopia: A School-Based Cluster Randomized Trial with Objective Monitoring of Outdoor Time and Light Intensity.
He X, Sankaridurg P, Wang J, Chen J, Naduvilath T, He M, Zhu Z, Li W, Morgan IG, Xiong S, Zhu J, Zou H, Rose KA, Zhang B, Weng R, Resnikoff S, Xu X
Ophthalmology 2022 Nov;129(11):1245-1254. Epub 2022 Jun 30 doi: 10.1016/j.ophtha.2022.06.024. PMID: 35779695
Efficacy and Safety of 8 Atropine Concentrations for Myopia Control in Children: A Network Meta-Analysis.
Ha A, Kim SJ, Shim SR, Kim YK, Jung JH
Ophthalmology 2022 Mar;129(3):322-333. Epub 2021 Oct 22 doi: 10.1016/j.ophtha.2021.10.016. PMID: 34688698
A 3-year Randomized Clinical Trial of MiSight Lenses for Myopia Control.
Chamberlain P, Peixoto-de-Matos SC, Logan NS, Ngo C, Jones D, Young G
Optom Vis Sci 2019 Aug;96(8):556-567. doi: 10.1097/OPX.0000000000001410. PMID: 31343513
Education and myopia: assessing the direction of causality by mendelian randomisation.
Mountjoy E, Davies NM, Plotnikov D, Smith GD, Rodriguez S, Williams CE, Guggenheim JA, Atan D
BMJ 2018 Jun 6;361:k2022. doi: 10.1136/bmj.k2022. PMID: 29875094Free PMC Article
Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050.
Holden BA, Fricke TR, Wilson DA, Jong M, Naidoo KS, Sankaridurg P, Wong TY, Naduvilath TJ, Resnikoff S
Ophthalmology 2016 May;123(5):1036-42. Epub 2016 Feb 11 doi: 10.1016/j.ophtha.2016.01.006. PMID: 26875007

Recent systematic reviews

Interventions for myopia control in children: a living systematic review and network meta-analysis.
Lawrenson JG, Shah R, Huntjens B, Downie LE, Virgili G, Dhakal R, Verkicharla PK, Li D, Mavi S, Kernohan A, Li T, Walline JJ
Cochrane Database Syst Rev 2023 Feb 16;2(2):CD014758. doi: 10.1002/14651858.CD014758.pub2. PMID: 36809645Free PMC Article
Myopia and Near Work: A Systematic Review and Meta-Analysis.
Dutheil F, Oueslati T, Delamarre L, Castanon J, Maurin C, Chiambaretta F, Baker JS, Ugbolue UC, Zak M, Lakbar I, Pereira B, Navel V
Int J Environ Res Public Health 2023 Jan 3;20(1) doi: 10.3390/ijerph20010875. PMID: 36613196Free PMC Article
Vitamin D and Ocular Diseases: A Systematic Review.
Chan HN, Zhang XJ, Ling XT, Bui CH, Wang YM, Ip P, Chu WK, Chen LJ, Tham CC, Yam JC, Pang CP
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084226. PMID: 35457041Free PMC Article
Association between digital smart device use and myopia: a systematic review and meta-analysis.
Foreman J, Salim AT, Praveen A, Fonseka D, Ting DSW, Guang He M, Bourne RRA, Crowston J, Wong TY, Dirani M
Lancet Digit Health 2021 Dec;3(12):e806-e818. Epub 2021 Oct 5 doi: 10.1016/S2589-7500(21)00135-7. PMID: 34625399
Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050.
Holden BA, Fricke TR, Wilson DA, Jong M, Naidoo KS, Sankaridurg P, Wong TY, Naduvilath TJ, Resnikoff S
Ophthalmology 2016 May;123(5):1036-42. Epub 2016 Feb 11 doi: 10.1016/j.ophtha.2016.01.006. PMID: 26875007

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    • ClinVar
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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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