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Myopia 24, autosomal dominant(MYP24)

MedGen UID:: 863199
•Concept ID:: C4014762
•: Disease or Syndrome

Synonym:	MYP24

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC39A5 (12q13.3)

Monarch Initiative:	MONDO:0014411
OMIM®:	615946

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 myopia, see 160700. [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

Abnormality of the eye
- High myopia

Professional guidelines

PubMed

Etiopathogenesis and management of high-degree myopia. Part I.

Zejmo M, Formińska-Kapuścik M, Pieczara E, Filipek E, Mrukwa-Kominek E, Samochowiec-Donocik E, Leszczyński R, Smuzyńska M
Med Sci Monit 2009 Sep;15(9):RA199-202. PMID: 19721411

See all (1)

Recent clinical studies

Etiology

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.

Zhang Y, Sun X, Tian G, Chen Y
Eye (Lond) 2023 Mar;37(4):624-630. Epub 2022 Mar 10 doi: 10.1038/s41433-022-01990-y. PMID: 35273349 Free PMC Article

Spontaneous suprachoroidal hemorrhage in a high myopia patient with rhegmatogenous retinal detachment: a case report and literature review.

Chai F, Zeng L, Li C, Zhao X
Biosci Rep 2019 Jun 28;39(6) Epub 2019 Jun 25 doi: 10.1042/BSR20181454. PMID: 31160485 Free PMC Article

Ocular findings in Loeys-Dietz syndrome.

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

Etiopathogenesis and management of high-degree myopia. Part I.

Zejmo M, Formińska-Kapuścik M, Pieczara E, Filipek E, Mrukwa-Kominek E, Samochowiec-Donocik E, Leszczyński R, Smuzyńska M
Med Sci Monit 2009 Sep;15(9):RA199-202. PMID: 19721411

Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families.

Farbrother JE, Kirov G, Owen MJ, Pong-Wong R, Haley CS, Guggenheim JA
Invest Ophthalmol Vis Sci 2004 Sep;45(9):2879-85. doi: 10.1167/iovs.03-1156. PMID: 15326098

See all (7)

Diagnosis

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.

Zhang Y, Sun X, Tian G, Chen Y
Eye (Lond) 2023 Mar;37(4):624-630. Epub 2022 Mar 10 doi: 10.1038/s41433-022-01990-y. PMID: 35273349 Free PMC Article

Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus.

Shen T, Qiu X, Lin X, Lin J, Li X, Chen Q, Pan L, Wang Z, Shen H, Zhang Q, Yan J
Ophthalmic Genet 2022 Feb;43(1):88-96. Epub 2021 Aug 3 doi: 10.1080/13816810.2021.1961283. PMID: 34344282

Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.

Goolam S, Carstens N, Ross M, Bentley D, Lopes M, Peden J, Kingsbury Z, Tsogka E, Barlow R, Carmichael TR, Ramsay M, Williams SE
Mol Vis 2018;24:407-413. Epub 2018 Jun 9 PMID: 29930474 Free PMC Article

Ocular findings in Loeys-Dietz syndrome.

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

Magnesium metabolism in childhood.

Geven WB, Monnens LA, Willems JL
Miner Electrolyte Metab 1993;19(4-5):308-13. PMID: 8264518

See all (7)

Prognosis

Spontaneous suprachoroidal hemorrhage in a high myopia patient with rhegmatogenous retinal detachment: a case report and literature review.

Chai F, Zeng L, Li C, Zhao X
Biosci Rep 2019 Jun 28;39(6) Epub 2019 Jun 25 doi: 10.1042/BSR20181454. PMID: 31160485 Free PMC Article

Etiopathogenesis and management of high-degree myopia. Part I.

Zejmo M, Formińska-Kapuścik M, Pieczara E, Filipek E, Mrukwa-Kominek E, Samochowiec-Donocik E, Leszczyński R, Smuzyńska M
Med Sci Monit 2009 Sep;15(9):RA199-202. PMID: 19721411

The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).

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

See all (3)

Clinical prediction guides

Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.

Linkage replication of the MYP12 locus in common myopia.

Chen CY, Stankovich J, Scurrah KJ, Garoufalis P, Dirani M, Pertile KK, Richardson AJ, Baird PN
Invest Ophthalmol Vis Sci 2007 Oct;48(10):4433-9. doi: 10.1167/iovs.06-1188. PMID: 17898262

Familial high myopia linkage to chromosome 18p.

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

Diurnal intraocular pressure in juvenile open-angle glaucoma.

Merritt JC, Reid LA, Smith R, Harris DF
Ann Ophthalmol 1979 Feb;11(2):253-60. PMID: 571260

See all (4)

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Myopia 24, autosomal dominant(MYP24)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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