U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Myopia 23, autosomal recessive(MYP23)

MedGen UID:
815812
•Concept ID:
C3809482
•
Disease or Syndrome
Synonym: MYP23
 
Gene (location): LRPAP1 (4p16.3)
 
Monarch Initiative: MONDO:0014183
OMIM®: 615431

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
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
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
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article

Recent clinical studies

Etiology

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ, Qi YH, Hu FY, Wang DD, Xu P, Guo JL, Li JK, Zhang YJ, Li W, Chen F, Xu GZ, Liu W, Chang Q, Wu JH
Br J Ophthalmol 2020 Jun;104(6):846-851. Epub 2019 Sep 13 doi: 10.1136/bjophthalmol-2019-314679. PMID: 31519547
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB
Neurology 2008 Nov 11;71(20):1602-8. Epub 2008 Aug 20 doi: 10.1212/01.wnl.0000327822.52212.c7. PMID: 18716235
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
Cohen syndrome in the Ohio Amish.
Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML
Am J Med Genet A 2004 Jul 1;128A(1):23-8. doi: 10.1002/ajmg.a.30033. PMID: 15211651

Diagnosis

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Case of Pierson syndrome presented with hyphema,vitrous haemorrhage and subsequent neovascular glaucoma.
ALKhamees A, ALShemmari M
BMC Ophthalmol 2023 Feb 24;23(1):76. doi: 10.1186/s12886-023-02826-3. PMID: 36829142Free PMC Article
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293Free PMC Article
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Dias MS, Hamel CP, Meunier I, Varin J, Blanchard S, Boyard F, Sahel JA, Zeitz C
Mol Vis 2017;23:131-139. Epub 2017 Mar 18 PMID: 28356705Free PMC Article
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD
Eur J Hum Genet 2016 Dec;24(12):1826-1827. Epub 2016 Jun 22 doi: 10.1038/ejhg.2016.74. PMID: 27329733Free PMC Article

Prognosis

Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293Free PMC Article
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB
Neurology 2008 Nov 11;71(20):1602-8. Epub 2008 Aug 20 doi: 10.1212/01.wnl.0000327822.52212.c7. PMID: 18716235

Clinical prediction guides

A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India.
Goyal S, Singh K, Uppal A, Vanita V
BMC Ophthalmol 2023 May 11;23(1):210. doi: 10.1186/s12886-023-02936-y. PMID: 37170250Free PMC Article
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293Free 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
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB
Neurology 2008 Nov 11;71(20):1602-8. Epub 2008 Aug 20 doi: 10.1212/01.wnl.0000327822.52212.c7. PMID: 18716235
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...