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Myopia 21, autosomal dominant(MYP21)

MedGen UID:
481627
•Concept ID:
C3279997
•
Disease or Syndrome
Synonym: MYP21
 
Gene (location): ZNF644 (1p22.2)
 
Monarch Initiative: MONDO:0013604
OMIM®: 614167

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
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

Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
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

Clinical and molecular findings in children with retinitis pigmentosa.
Li C, Zhang C, Bai D, Cui Y
Ophthalmic Genet 2024 Oct;45(5):441-451. Epub 2024 Aug 29 doi: 10.1080/13816810.2024.2357305. PMID: 39206744
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: 35273349Free PMC Article
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
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
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V
Am J Med Genet A 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. PMID: 14598350

Diagnosis

Clinical and molecular findings in children with retinitis pigmentosa.
Li C, Zhang C, Bai D, Cui Y
Ophthalmic Genet 2024 Oct;45(5):441-451. Epub 2024 Aug 29 doi: 10.1080/13816810.2024.2357305. PMID: 39206744
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: 35273349Free PMC Article
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
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
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886

Prognosis

Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
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
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: 31160485Free PMC Article
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886
Pseudoinflammatory fundus dystrophy: a follow-up study.
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

Clinical prediction guides

Clinical and molecular findings in children with retinitis pigmentosa.
Li C, Zhang C, Bai D, Cui Y
Ophthalmic Genet 2024 Oct;45(5):441-451. Epub 2024 Aug 29 doi: 10.1080/13816810.2024.2357305. PMID: 39206744
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
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
Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa.
Wang Y, Chen X, Gao X, Zhao A, Zhao C, Chen X
BMC Ophthalmol 2021 Oct 19;21(1):371. doi: 10.1186/s12886-021-02110-2. PMID: 34666717Free PMC Article
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
Bende P, Natarajan K, Marudhamuthu T, Madhavan J
J Pediatr Ophthalmol Strabismus 2013 Jan-Feb;50(1):34-6. doi: 10.3928/01913913-20121107-01. PMID: 23463886
Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.
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

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