Cataract

Definition:

Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can cause large fluctuations in density resulting in light scattering. In addition, light scattering and opacity will occur if there is a significant amount of high molecular weight protein aggregates. Cataracts can be classified by the age at onset: a congenital or infantile cataract presents within the first year of life; a juvenile cataract presents within the first decade of life; a presenile cataract presents before the age of about 45 years, and senile or age-related cataract after that. Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Inherited congenital cataracts may be inherited as autosomal dominant (most frequent), autosomal recessive, or X-linked traits.

References:

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[2]. Alan Shiels, et al. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 2007 Sep;81(3):596-606. [Content Brief]

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[12]. Eran Pras, et al. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet. 2002 May;70(5):1363-7. [Content Brief]

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[16]. Jianjun Chen, et al. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-838. [Content Brief]

[17]. John J Castorino, et al. Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6774-84. [Content Brief]

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[19]. Lars Hansen, et al. The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. Eur J Hum Genet. 2014 Nov;22(11):1290-7. [Content Brief]

[20]. Lei Bu, et al. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet. 2002 Jul;31(3):276-8. [Content Brief]

[21]. Linda M Reis, et al. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013 Jul;132(7):761-70. [Content Brief]

[22]. M Litt, et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997 May;6(5):665-8. [Content Brief]

[23]. M Litt, et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet. 1998 Mar;7(3):471-4. [Content Brief]

[24]. Margherita Coccia, et al. X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. [Content Brief]

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[26]. Masayuki Mori, et al. Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat. J Clin Invest. 2006 Feb;116(2):395-404. [Content Brief]

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[28]. Mohammed A Aldahmesh, et al. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012 Jun;33(6):960-2. [Content Brief]

[29]. Muhammad Ansar, et al. Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018 Oct 4;103(4):568-578. [Content Brief]

[30]. Philip M Boone, et al. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2015 Nov 14;4(1):77-94. [Content Brief]

[31]. Ramya Devi Ramachandran, et al. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet. 2007 May;121(3-4):475-82. [Content Brief]

[32]. Robyn V Jamieson, et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet. 2002 Jan 1;11(1):33-42. [Content Brief]

[33]. S Amer Riazuddin, et al. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. [Content Brief]

[34]. Salil A Lachke, et al. Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science. 2011 Mar 25;331(6024):1571-6. [Content Brief]

[35]. Shahid Y Khan, et al. FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nat Commun. 2016 Apr 6;7:10953. [Content Brief]

[36]. V Berry, et al. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet. 2001 Nov;69(5):1141-5. [Content Brief]

[37]. V Berry, et al. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet. 2000 May;25(1):15-7. [Content Brief]

[38]. Vanita Berry, et al. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet. 2013 Dec;21(12):1356-60. [Content Brief]

[39]. Y P Conley, et al. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet. 2000 Apr;66(4):1426-31. [Content Brief]

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