Myopia

Definition:

Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative genes have been identified. It was reported that high myopia with cataract and vitreoretinal degeneration (MCVD) is caused by homozygous mutation in the LEPREL1 (P3H2) gene.

References:

[1]. Fuxin Zhao, et al. Exome sequencing reveals CCDC111 mutation associated with high myopia. Hum Genet. 2013 Aug;132(8):913-21. [Content Brief]

[2]. H Guo, et al. Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. Clin Genet. 2014 Dec;86(6):575-9. [Content Brief]

[3]. Hui Guo, et al. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. Genet Med. 2015 Apr;17(4):300-6. [Content Brief]

[4]. Hui Guo, et al. SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia. J Med Genet. 2014 Aug;51(8):518-25. [Content Brief]

[5]. Jiamin Ouyang, et al. CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection. Hum Mol Genet. 2019 Jun 15;28(12):1959-1970. [Content Brief]

[6]. Khanh-Nhat Tran-Viet, et al. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet. 2013 May 2;92(5):820-6. [Content Brief]

[7]. Mohammed A Aldahmesh, et al. Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet. 2013 Aug 8;93(2):313-20. [Content Brief]

[8]. Yi Shi, et al. Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet. 2011 Jun;7(6):e1002084. [Content Brief]

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