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Hereditary Cataracts

  • Yogita Gupta
  • Chirakshi Dhull
  • Sudarshan Kumar Khokhar
Chapter

Abstract

Inheritance is observed in congenital cataracts in 8.3–25% of cases, with most common mode of inheritance pattern being autosomal dominant. Lens development is a complex process that is tightly regulated by several genes, which if undergo mutation, can present as cataract with peculiar inheritance patterns. A pediatric ophthalmologist should record a comprehensive family pedigree and screen family members of cases with congenital or developmental cataract.

References

  1. 1.
    Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications. Ophthalmology. 2004;111(12):2292–8.CrossRefGoogle Scholar
  2. 2.
    Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol. 2008;19(2):134–49.CrossRefGoogle Scholar
  3. 3.
    Churchill A, Graw J. Clinical and experimental advances in congenital and paediatric cataracts. Philos Trans R Soc Lond Ser B Biol Sci. 2011;366(1568):1234–49.CrossRefGoogle Scholar
  4. 4.
    Liu Y, et al. A novel αB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. Invest Ophthalmol Vis Sci. 2006;47:1069–75.CrossRefGoogle Scholar
  5. 5.
    Huang B, He W. Molecular characteristics of inherited congenital cataracts. Eur J Med Genet. 2010;53:347–57.CrossRefGoogle Scholar
  6. 6.
    Reddy MA, Francis PJ, Berry V, et al. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol. 2004;49:300–15.CrossRefGoogle Scholar
  7. 7.
    Kumar M, Agarwal T, Khokhar S, et al. Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract. Mol Vis. 2011;17:693–707.PubMedPubMedCentralGoogle Scholar
  8. 8.
    Kumar M, Agarwal T, Kaur P, Kumar M, Khokhar S, Dada R. Molecular and structural analysis of genetic variations in congenital cataract. Mol Vis. 2013;19:2436–50.PubMedPubMedCentralGoogle Scholar
  9. 9.
    Wieczorek D, Gillessen-Kaesbach G, Passarge E. A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome? Genet Couns. 1995;6(4):297–302; ReviewPubMedGoogle Scholar
  10. 10.
    OMIM—Online mendelian inheritance in man. http://www.omim.org/. Accessed 6 Nov 2018.
  11. 11.
    Spranger JW, Opitz JM, Bidder U. Heterogeneity of chondrodysplasia punctata. Humangenetik. 1971;11:190–212.PubMedGoogle Scholar
  12. 12.
  13. 13.
    Lejeune J, Lafourcade J, Berger R, Vialatta J, Boeswillwald M, Seringe P, Turpin R. Trois ca de deletion partielle du bras court d’un chromosome 5. C R Acad Sci (Paris). 1963;257:3098.Google Scholar
  14. 14.
    Czeizel A, Lowry RB. Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs. Acta Paediatr Hung. 1990;30:343–9.PubMedGoogle Scholar
  15. 15.
    Haargaard B, Fledelius HC. Down’s syndrome and early cataract. Br J Ophthalmol. 2006;90(8):1024–7.CrossRefGoogle Scholar
  16. 16.
    Traboulsi EI, De Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol. 1992;114:579–83.CrossRefGoogle Scholar
  17. 17.
    Gorlin R, Cohen M, Levin S. Hallermann-Streiff syndrome. Syndromes of the head and neck. 3rd ed. New York: Oxford Univiversity Press; 1990. p. 306–8.Google Scholar
  18. 18.
    Devi AS, Eisenfeld L, Uphoff D, Greenstein R. New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome). Am J Med Genet. 1995;56:62–6.CrossRefGoogle Scholar
  19. 19.
    Stambolian D, Lewis RA, Buetow K, Bond A, Nussbaum R. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet. 1990;47:13–9.PubMedPubMedCentralGoogle Scholar
  20. 20.
    Chess J, Albert DM. Ocular pathology of the Majewski syndrome. Br J Ophthalmol. 1982 Nov;66(11):736–41.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Yogita Gupta
    • 1
  • Chirakshi Dhull
    • 1
  • Sudarshan Kumar Khokhar
    • 1
  1. 1.Dr. Rajendra Prasad Centre for Ophthalmic SciencesAll India Institute of Medical SciencesNew DelhiIndia

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