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Myopia 5, autosomal dominant(MYP5)

MedGen UID:
324913
Concept ID:
C1837972
Disease or Syndrome
Synonym: MYP5
 
Monarch Initiative: MONDO:0012045
OMIM®: 608474

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
Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS
Mol Genet Genomic Med 2021 May;9(5):e1628. Epub 2021 May 5 doi: 10.1002/mgg3.1628. PMID: 33951325Free PMC Article

Recent clinical studies

Etiology

Angée C, Nedelec B, Erjavec E, Rozet JM, Fares Taie L
Genes (Basel) 2021 Apr 22;12(5) doi: 10.3390/genes12050624. PMID: 33922078Free PMC Article
Busch C, Voitl R, Goergen B, Zemojtel T, Gehle P, Salchow DJ
Br J Ophthalmol 2018 Aug;102(8):1036-1040. Epub 2017 Nov 16 doi: 10.1136/bjophthalmol-2017-311254. PMID: 29146755
Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374
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
Snead MP, Yates JR
J Med Genet 1999 May;36(5):353-9. PMID: 10353778Free PMC Article

Diagnosis

Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS
Mol Genet Genomic Med 2021 May;9(5):e1628. Epub 2021 May 5 doi: 10.1002/mgg3.1628. PMID: 33951325Free PMC Article
Napolitano F, Di Iorio V, Testa F, Tirozzi A, Reccia MG, Lombardi L, Farina O, Simonelli F, Gianfrancesco F, Di Iorio G, Melone MAB, Esposito T, Sampaolo S
Clin Genet 2018 May;93(5):982-991. Epub 2018 Mar 5 doi: 10.1111/cge.13217. PMID: 29364500
Busch C, Voitl R, Goergen B, Zemojtel T, Gehle P, Salchow DJ
Br J Ophthalmol 2018 Aug;102(8):1036-1040. Epub 2017 Nov 16 doi: 10.1136/bjophthalmol-2017-311254. PMID: 29146755
Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374
Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N
Am J Hum Genet 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011. PMID: 19836009Free PMC Article

Therapy

Farbrother JE, Kirov G, Owen MJ, Guggenheim JA
Invest Ophthalmol Vis Sci 2004 Sep;45(9):2873-8. doi: 10.1167/iovs.03-1155. PMID: 15326097

Prognosis

Abdelwahed M, Hilbert P, Ahmed A, Dey M, Bouomrani S, Kamoun H, Ammar-Keskes L, Belguith N
Gene 2022 Apr 5;817:146174. Epub 2022 Jan 12 doi: 10.1016/j.gene.2021.146174. PMID: 35031424
Xiao Y, Liu X, Guo X, Liu L, Jiang L, Wang Q, Gong B
Mol Med Rep 2017 Nov;16(5):7321-7328. Epub 2017 Sep 20 doi: 10.3892/mmr.2017.7544. PMID: 28944857Free PMC Article
Xiang X, Wang T, Tong P, Li Y, Guo H, Wan A, Xia L, Liu Y, Li Y, Tian Q, Shen L, Cai X, Tian L, Jin X, Xia K, Hu Z
Mol Vis 2014;20:939-46. Epub 2014 Jun 30 PMID: 24991186Free PMC Article
Dawson EL, Hardy TG, Collin JR, Lee JP
Strabismus 2003 Sep;11(3):173-7. doi: 10.1076/stra.11.3.173.16645. PMID: 14710475
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

Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374
Ma JH, Shen SH, Zhang GW, Zhao DS, Xu C, Pan CM, Jiang H, Wang ZQ, Song HD
Mol Vis 2010 Oct 12;16:2043-54. PMID: 21042559Free PMC Article
Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF
Mol Vis 2005 Jul 22;11:554-60. PMID: 16052171
Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF
Mol Vis 2004 Nov 17;10:890-900. PMID: 15570218
Lam DS, Tam PO, Fan DS, Baum L, Leung YF, Pang CP
Ophthalmologica 2003 Mar-Apr;217(2):115-8. doi: 10.1159/000068554. PMID: 12592049

Recent systematic reviews

Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114

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