The Indian Practitioner

Open Access Open Access  Restricted Access Subscription Access
Open Access Open Access Open Access  Restricted Access Restricted Access Subscription Access

Molecular Basis for the Development of Coloboma : A Review


Affiliations
1 Multidisciplinary Research Unit, Shyam Shah Medical College Rewa (M.P.), India
     

   Subscribe/Renew Journal


Colobomas are congenital anomalies that cause pediatric blindness due to gaps between the corneas and optic nerves. They are typically characterized by inferior or ventral origins and can cause vision loss. During embryonic development, PAX6 belongs to a family of genes that play critical roles in tissue and organ development. PAX protein apparently activates centralized genes that play a role in the development of the eyes, spinal cord, brain, and pancreas during embryonic development. PAX6 protein controls many aspects of eye development before and after birth. Many structures of the eye are likely affected by the PAX6 protein, which regulates the expression of various genes.

Keywords

Coloboma, PAX6, Gene, Eye, Iris, Retina.
Subscription Login to verify subscription
User
Notifications
Font Size


  • Coloboma. Mosby’s Medical, Nursing & Allied Health Dictionary (4th ed.). Mosby Year-Book. 1994. p. 361.

  • Bales TR, Lopez MJ, Clark J. StatPearls. StatPearls Publishing; Treasure Island (FL): Mar 30, 2022. Embryology, Eye.

  • Rosen D, Mahabadi N. StatPearls. StatPearls Publishing; Treasure Island (FL): May 8, 2022. Embryology, Optic Cup.

  • Cook Jacob. The embryology of the eye. Eye News.2016;22(4):1-2

  • Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet 2002; May 15;11(10):1161-7. doi: 10.1093/ hmg/11.10. 1161.

  • Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991; 67: 1059–1074

  • Gehring WJ. The master control gene for morphogenesis and evolution of the eye. Genes Cells.1996; 1:11–15

  • Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation, and aniridia mutations in the human PAX6 gene. Nat Genet. 1992 Nov;2(3):232-9; doi: 10.1038/ng1192-232.

  • Georgala PA, Carr CB, Price DJ. The role of Pax6 in forebrain development. Dev Neurobiol.2011; 71(8): Aug;71(8):690-709. doi: 10.1002/dneu.20895.

  • Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab.2011 104(4): 448-456; doi: 10.1016/j.ymgme.2011.09.029

  • Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E et al. Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations Am. J. Hum. Genet. 2003; 72:1565–1570; doi: 10.1086/375555

  • Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L et al. Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patient. Eye. 2011; 25, 1581–1589; doi: 10.1038/eye.2011.215.

  • Wang P, Sun W, Li S, Xiao X, Guo X, Zhang Q. PAX6 Mutations Identified in 4 of 35 Families with Microcornea. IOVS, 2012;53(1):6338-42; doi: 10.1167/iovs.12-10472.

  • Guo H, Dai L, Huang Y, Liao Q, Bai Y. A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma. PLOS ONE. 2013;8(12): e83073; doi: 10.1371/journal.pone.0083073

  • Kanemaki N, Meguro A, Yamane T, Takeuchi M, Okada E, Iijima Y, et al. Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population. Clinical Ophthalmology 2015;9: 2005–2011; doi: 10.2147/ OPTH.S95167

  • Tsai YY, Chiang CC, Lin HJ, Lin JM, Wan L, Tsai FJ. A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia. Eye (Lond). 2008;22(4):576–581; doi: 10.1038/sj.eye.6702982

  • Han W, Leung KH, Fung WY. Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. Invest Ophthalmol Vis Sci. 2009;50(1):47–56; doi: 10.1167/iovs.07-0813.

  • Liang CL, Hsi E, Chen KC, Pan YR, Wang YS, Juo SH. A functional polymorphism at 3′UTR of the PAX6 gene may confer risk for extreme myopia in the Chinese. Invest Ophthalmol Vis Sci. 2011;52(6): 3500–3505; doi: 10.1167/ iovs.10-5859.

  • Miyake M, Yamashiro K, Nakanishi H. Assocn. of paired box 6 with high myopia in Japanese. Mol Vis. 2012; 18:2726–2735

  • Tsai Y-Y, Chiang C-C, Lin H-J, Lin J-M, Wan L, Tsai F-J. A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia. Eye. 2008; 22:576–581; doi: 10.1038/sj.eye.6702982.

  • Kang Y, Lin Y, Li X, Wu Q, Huang L, Li Q, et al. Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. Molecular Vision. 2012; 18:1750-1754

  • Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y et al. Genotype–phenotype correlation of PAX6 gene mutations in aniridia. Human Genome Variation. 2016; 3: 15052; doi: 10.1038/hgv.2015.52

  • Chograni M, Derouiche K, Chaabouni M, Lariani I, Bouhamed H. Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families. Human Genome Variation. 2014; 1: 14008; doi: 10.1038/hgv.2014.8


Abstract Views: 138

PDF Views: 0




  • Molecular Basis for the Development of Coloboma : A Review

Abstract Views: 138  |  PDF Views: 0

Authors

Sanjay Kumar Pandey
Multidisciplinary Research Unit, Shyam Shah Medical College Rewa (M.P.), India

Abstract


Colobomas are congenital anomalies that cause pediatric blindness due to gaps between the corneas and optic nerves. They are typically characterized by inferior or ventral origins and can cause vision loss. During embryonic development, PAX6 belongs to a family of genes that play critical roles in tissue and organ development. PAX protein apparently activates centralized genes that play a role in the development of the eyes, spinal cord, brain, and pancreas during embryonic development. PAX6 protein controls many aspects of eye development before and after birth. Many structures of the eye are likely affected by the PAX6 protein, which regulates the expression of various genes.

Keywords


Coloboma, PAX6, Gene, Eye, Iris, Retina.

References