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Pediatric Cataract

Editor(s): Nucci P. (Milan) 
Cover

Genetics of Congenital Cataract

Pichi F.a, b · Lembo A.b · Serafino M.b · Nucci P.b

Author affiliations

aCole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA; bUniversity Eye Clinic, San Giuseppe Hospital, Milan, Italy

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Nucci P (ed): Pediatric Cataract. Dev Ophthalmol. Basel, Karger, 2016, vol 57, pp 1-14

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Article / Publication Details

First-Page Preview
Abstract of  

Published online: April 01, 2016
Cover Date: 2016

Number of Print Pages: 14
Number of Figures: 0
Number of Tables: 0

ISBN: 978-3-318-05819-2 (Print)
eISBN: 978-3-318-05820-8 (Online)

Abstract

Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

© 2016 S. Karger AG, Basel


References

  1. Foster A, Gilbert C, Rahi J: Epidemiology of cataract in childhood: a global perspective. J Cataract Refract Surg 1997;23(suppl 1):601-604.
  2. Apple DJ, Ram J, Foster A, Peng Q: Elimination of cataract blindness: a global perspective entering the new millennium. Surv Ophthalmol 2000;45(suppl 1): S1-S196.
    External Resources
  3. Gilbert C, Foster A: Childhood blindness in the context of VISION 2020 - the right to sight. Bull World Health Organ 2001;79:227-232.
    External Resources
  4. Foster A: Worldwide blindness, increasing but avoidable. Semin Ophthalmol 1993;8:166-170.
    External Resources
  5. Rahi JS, Scripathi S, Gilbert C, Foster A: Childhood blindness in India: causes in 1318 blind school students in nine states. Eye (Lond) 1995;9:545-550.
  6. Tartarella MB, Kawakami LT, Scarpi MJ, Hayashi S: Aspectos cirúrgicos em catarata congênita. Arq Bras Oftalmol 1995;58:24-28.
  7. Carvalho KM, Minguini N, Moreira Filho DC, Kara-José N: Characteristics of a pediatric low-vision population. J Pediatr Ophthalmol Strabismus 1998;35:162-165.
    External Resources
  8. Haddad MA, Lobato FJ, Sampaio MW, Kara-José N: Pediatric and adolescent population with visual impairment: study of 385 cases. Clinics (São Paulo) 2006;61:239-246.
  9. Eckstein M, Vijayalakshmi P, Killerdar M, Gilbert C, Foster A: Aetiology of childhood cataract in south India. Br J Ophthalmol 1996;80:628-632.
  10. He W, Li S: Congenital cataracts: gene mapping. Hum Genet 2000;106:1-13.
  11. Messina-Baas OM, Gonzalez-Huerta LM, Cuevas-Covarrubias SA: Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene. Mol Vis 2006;12:995-1000.
    External Resources
  12. Rahi JS, Dezateux C: National cross sectional study of detection of congenital and infantile cataract in the United Kingdom: role of childhood screening and surveillance. The British Congenital Cataract Interest Group. BMJ 1999;318:362-365.
  13. Oliveira ML, Di Giovanni ME, Porfírio Neto F Jr, Tartarella MB: Catarata congênita: aspectos diagnósticos, clínicos e cirúrgicos em pacientes submetidos à lensectomia. Arq Bras Oftalmol 2004;67:921-926.
    External Resources
  14. Beby F, Morle L, Michon L, Bozon M, Edery P, Burillon C, et al: The genetics of hereditary cataract (in French). J Fr Ophtalmol 2003;26:400-408.
    External Resources
  15. Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, et al: Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci 2000;41:159-165.
    External Resources
  16. Reddy MA, Francis PJ, Berry V, Bhattacharya S, Moore AT: Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004;49:300-315.
  17. Bettelheim FA, Chylack LT Jr: Light scattering of whole excised human cataractous lenses. Relationships between different light scattering parameters. Exp Eye Res 1985;41:19-30.
  18. Kannabiran C, Balasubramanian D: Molecular genetics of cataract. Indian J Ophthalmol 2000;48:5-13.
    External Resources
  19. Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V: A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. Mol Vis 2007;13:1657-1665.
    External Resources
  20. Hejtmamcik JF, Smaoui N: Molecular genetics of cataract. Dev Ophthalmol 2003;37:67-82.
  21. Bhat SP: Crystallins, genes and cataract. Prog Drug Res 2003;60:205-263.
  22. Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, et al: Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci 2007;48:3937-3944.
  23. Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S: Missense mutations in MIP underlie autosomal dominant ‘polymorphic' and lamellar cataracts linked to 12q. Nat Genet 2000;25:15-17.
  24. Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M: Autosomal-dominant congenital cataract associated with deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet 2000;66:1432-1436.
  25. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, et al: A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataract and ASMD. Nat Genet 1998;19:167-170.
  26. Vanita V, Singh D, Robinson PN, Sperling K, Singh JR: A novel mutation in the DNA-binding domain of MAF at 16q23-1 associated with autosomal dominant ‘cerulean cataract' in an Indian family. Am J Med Genet A 2006;140:558-566.
  27. Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, et al: Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Hum Genet 2005;117:452-459.
  28. Augusteyn RC: Alpha-crystallin: a review of its structure and function. Clin Exp Optom 2004;87:356-366.
  29. Brady JP, Garland D, Duglas-Tabor Y, Robison WG Jr, Groome A, Wawrousek EF: Targed disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat-shock protein alpha B-crystallin. Proc Natl Acad Sci USA 1997;94:884-889.
  30. Bera S, Abraham EC: The alphaA-crystallin R116C mutant has a higher affinity for forming heteroaggregates with alphaB-crystallin. Biochemistry 2002;41:297-305.
  31. Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia El, et al: A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 2000;41:3511-3515.
    External Resources
  32. Santhiya ST, Soker T, Klopp N, Illig T, Prakash MV, Selvaraj B, et al: Identification of a novel, putative cataract - causing allele in CRYAA (G98R) in an Indian family. Mol Vis 2006;12:768-773.
    External Resources
  33. Berry V, Francis P, Reddy MA, Collyer D, Vithana E, Mackay L, et al: Alpha-B crystalline gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 2001;69:1141-1145.
  34. Reddy MA, Bateman OA, Chakarova C, Ferris J, Berry V, Lomas E, et al: Characterization of the G91del CRYBA1/3 crystallin protein: a cause of human inherited cataract. Hum Mol Genet 2004;13:945-953.
  35. Santhiya ST, Manisastry SM, Rawlley D, Malathi R, Anishetty S, Gopinath PM, et al: Mutation analysis of the congenital cataracts in Indian families: identification of SNPs and a new causative allele in CRYBB2 gene. Invest Ophthalmol Vis Sci 2004;45:3599-3607.
  36. Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalaskshmi P, Namperumalsamy P, Gopinath PM, et al: Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. J Med Genet 2002;39:352-358. Comment on: J Med Genet 2000;37:481-488.
  37. Fu L, Liang JJ: Conformational change and destabilization of cataract gammaC-crystallin T5P mutant. FEBS Lett 2002;513:213-216.
  38. Goodenough DA, Goliger JA, Paul DL: Connexins, connéxons, and intercellular communication. Annu Rev Biochem 1996;65:475-502.
  39. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S: A missense mutation in the human connexion 50 gene (GJA8) underlies autosomal dominant ‘zonular pulverulent' cataract, on chromosome 1q. Am J Hum Genet 1998;62:526-532.
  40. Polyakov AV, Shagina LA, Khlebnikova OV, Evgrafov OV: Mutation in the conexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet 2001;60: 476-478.
  41. Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, 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;66:1426-1431.
  42. Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, et al: Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract ocular segment dysgenesis and coloboma. Hum Mol Genet 2002;11:33-42.
  43. Santana A, Waiswol M, Arcieri ES, Vanconcellos JP, Barbosa de Melo M: Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis 2009;15:793-800.
    External Resources
  44. Renwick JH, Lawler SD: Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann Hum Genet 1963;27:67-84.

Article / Publication Details

First-Page Preview
Abstract of  

Published online: April 01, 2016
Cover Date: 2016

Number of Print Pages: 14
Number of Figures: 0
Number of Tables: 0

ISBN: 978-3-318-05819-2 (Print)
eISBN: 978-3-318-05820-8 (Online)


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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