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Myopia 25, autosomal dominant(MYP25)

MedGen UID:
934622
Concept ID:
C4310655
Disease or Syndrome
Synonym: MYP25
 
Gene (location): P4HA2 (5q31.1)
 
Monarch Initiative: MONDO:0014982
OMIM®: 617238

Definition

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. [from OMIM]

Clinical features

From HPO
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.

Professional guidelines

PubMed

Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777

Recent clinical studies

Etiology

Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV
Am J Ophthalmol 2018 Jun;190:58-68. Epub 2018 Mar 17 doi: 10.1016/j.ajo.2018.03.021. PMID: 29559409
Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP
Br J Ophthalmol 2015 Oct;99(10):1360-5. Epub 2015 Apr 16 doi: 10.1136/bjophthalmol-2014-306224. PMID: 25883087
Armon K, Bale P
Practitioner 2012 Jun;256(1752):19-23, 2-3. PMID: 22916581
Steele TM, Fabinyi DC, Couper TA, Loughnan MS
Clin Exp Ophthalmol 2008 Dec;36(9):824-30. doi: 10.1111/j.1442-9071.2009.01908.x. PMID: 19278476
Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL
Hum Genet 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. PMID: 2227956

Diagnosis

Wang Y, Xu M, Liu X, Huang Y, Zhou Y, Liu Q, Chen X, Zhao C, Wang M
Mol Vis 2019;25:912-920. Epub 2019 Dec 31 PMID: 32025183Free PMC Article
Armon K, Bale P
Practitioner 2012 Jun;256(1752):19-23, 2-3. PMID: 22916581
Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H
J Korean Med Sci 2010 Jun;25(6):918-23. Epub 2010 May 24 doi: 10.3346/jkms.2010.25.6.918. PMID: 20514315Free PMC Article
Steele TM, Fabinyi DC, Couper TA, Loughnan MS
Clin Exp Ophthalmol 2008 Dec;36(9):824-30. doi: 10.1111/j.1442-9071.2009.01908.x. PMID: 19278476
Bowling EL, Brown MD, Trundle TV
Optometry 2000 Mar;71(3):177-82. PMID: 10970261

Therapy

Verstraeten A, Alaerts M, Van Laer L, Loeys B
Hum Mutat 2016 Jun;37(6):524-31. Epub 2016 Mar 14 doi: 10.1002/humu.22977. PMID: 26919284

Prognosis

Wang Y, Xu M, Liu X, Huang Y, Zhou Y, Liu Q, Chen X, Zhao C, Wang M
Mol Vis 2019;25:912-920. Epub 2019 Dec 31 PMID: 32025183Free PMC Article
Cho KH, Park IW, Kwon SI
Am J Ophthalmol 2014 Aug;158(2):251-256.e2. Epub 2014 Apr 30 doi: 10.1016/j.ajo.2014.04.023. PMID: 24794090
Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE
Ophthalmic Genet 2004 Mar;25(1):57-62. doi: 10.1076/opge.25.1.57.29002. PMID: 15255117
Eriksson AW, Suvanto EA, Frants RR, Forsius HR
Clin Genet 1990 Jul;38(1):21-32. doi: 10.1111/j.1399-0004.1990.tb03543.x. PMID: 2387082
Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL
Hum Genet 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. PMID: 2227956

Clinical prediction guides

Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H
J Korean Med Sci 2010 Jun;25(6):918-23. Epub 2010 May 24 doi: 10.3346/jkms.2010.25.6.918. PMID: 20514315Free PMC Article
Yang Z, Xiao X, Li S, Zhang Q
Mol Vis 2009;15:312-8. Epub 2009 Feb 9 PMID: 19204786Free PMC Article
Steele TM, Fabinyi DC, Couper TA, Loughnan MS
Clin Exp Ophthalmol 2008 Dec;36(9):824-30. doi: 10.1111/j.1442-9071.2009.01908.x. PMID: 19278476
Nürnberg G, Jacobi FK, Broghammer M, Becker C, Blin N, Nürnberg P, Stephani U, Pusch CM
Int J Mol Med 2008 Apr;21(4):429-38. PMID: 18360688
Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL
Invest Ophthalmol Vis Sci 2005 Jul;46(7):2300-7. doi: 10.1167/iovs.04-1423. PMID: 15980214

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