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Myopia 22, autosomal dominant(MYP22)

MedGen UID:
815794
•Concept ID:
C3809464
•
Disease or Syndrome
Synonym: MYP22
 
Gene (location): PRIMPOL (4q35.1)
 
Monarch Initiative: MONDO:0014177
OMIM®: 615420

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
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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

Professional guidelines

PubMed

Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.
Penpattharakul W, Pithukpakorn M
J Med Assoc Thai 2016 Jan;99(1):34-9. PMID: 27455822
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X
Mol Vis 2016;22:697-704. Epub 2016 Jun 23 PMID: 27390512Free PMC Article

Recent clinical studies

Etiology

Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.
Penpattharakul W, Pithukpakorn M
J Med Assoc Thai 2016 Jan;99(1):34-9. PMID: 27455822
Rhegmatogenous retinal detachment--an ophthalmologic emergency.
Feltgen N, Walter P
Dtsch Arztebl Int 2014 Jan 6;111(1-2):12-21; quiz 22. doi: 10.3238/arztebl.2014.0012. PMID: 24565273Free PMC Article
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.
Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL
Mol Vis 2007 Feb 15;13:229-36. PMID: 17327828Free PMC Article
Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes.
Scavello GS Jr, Paluru PC, Zhou J, White PS, Rappaport EF, Young TL
Mol Vis 2005 Feb 2;11:97-110. PMID: 15723005
The Wagner-Stickler syndrome: a study of 22 families.
Liberfarb RM, Hirose T, Holmes LB
J Pediatr 1981 Sep;99(3):394-9. doi: 10.1016/s0022-3476(81)80324-1. PMID: 7264793

Diagnosis

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X
Mol Vis 2016;22:697-704. Epub 2016 Jun 23 PMID: 27390512Free PMC Article
Rhegmatogenous retinal detachment--an ophthalmologic emergency.
Feltgen N, Walter P
Dtsch Arztebl Int 2014 Jan 6;111(1-2):12-21; quiz 22. doi: 10.3238/arztebl.2014.0012. PMID: 24565273Free PMC Article
Hereditary and clinical features of retinitis pigmentosa in Koreans.
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
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.
Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie O, Cole WG, King RA, Young TL
Invest Ophthalmol Vis Sci 2003 May;44(5):1830-6. doi: 10.1167/iovs.02-0697. PMID: 12714612
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).
Popkin JS, Polomeno RC
Can Med Assoc J 1974 Nov 16;111(10):1071-6. PMID: 4429933Free PMC Article

Therapy

Rhegmatogenous retinal detachment--an ophthalmologic emergency.
Feltgen N, Walter P
Dtsch Arztebl Int 2014 Jan 6;111(1-2):12-21; quiz 22. doi: 10.3238/arztebl.2014.0012. PMID: 24565273Free PMC Article

Prognosis

Clinical features of the congenital vitreoretinopathies.
Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337
Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes.
Scavello GS Jr, Paluru PC, Zhou J, White PS, Rappaport EF, Young TL
Mol Vis 2005 Feb 2;11:97-110. PMID: 15723005
Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.
Johnson AT, Richards JE, Boehnke M, Stringham HM, Herman SB, Wong DJ, Lichter PR
Ophthalmology 1996 May;103(5):808-14. doi: 10.1016/s0161-6420(96)30611-8. PMID: 8637692
The Wagner-Stickler syndrome: a study of 22 families.
Liberfarb RM, Hirose T, Holmes LB
J Pediatr 1981 Sep;99(3):394-9. doi: 10.1016/s0022-3476(81)80324-1. PMID: 7264793

Clinical prediction guides

Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.
Penpattharakul W, Pithukpakorn M
J Med Assoc Thai 2016 Jan;99(1):34-9. PMID: 27455822
Hereditary and clinical features of retinitis pigmentosa in Koreans.
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
Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia.
Yang Z, Xiao X, Li S, Zhang Q
Mol Vis 2009;15:312-8. Epub 2009 Feb 9 PMID: 19204786Free PMC Article
Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota.
Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL
Mol Vis 2007 Feb 15;13:229-36. PMID: 17327828Free PMC Article
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.
Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie O, Cole WG, King RA, Young TL
Invest Ophthalmol Vis Sci 2003 May;44(5):1830-6. doi: 10.1167/iovs.02-0697. PMID: 12714612

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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      Related literature resources in PubMed

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