Genetic examination in cases of congenital cataract;Genetische Untersuchungen bei Kongenitaler Katarakt

Ophthalmologe

Volumn 104, Issue 7, 2007, Pages 559-565

  Lorenz, B ^a  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

Congenital cataract; Genotype phenotype; Inheritance; Molecular genetics; Syndromic cataract

Indexed keywords

EID: 34547427305     PISSN: 0941293X     EISSN: 14330423     Source Type: Journal    
DOI: 10.1007/s00347-007-1557-2     Document Type: Article

References (27)

1. Asrani S, Freedman S, Hasselblad V et al. (1997) Epidemiology of cataract in childhood. J Cataract Refract Surg 23: 601-604
2. Bermejo E, Martinez-Frias ML (1998) Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 75: 497-504
3. Billingsley G, Santhiya ST, Paterson AD et al. (2006) CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet 79: 702-709
4. Brown NAP, Bron AJ (1996) Aetiological classification of cataract: infantile, inherited, and systemic causes. In: Brown NAP, Bron AJ (eds) Lens Disorders: A Clinical Manual of Cataract Diagnosis. Butterworth-Heinemann Ltd, Oxford, England
5. Cibis GW, Waeltermann JM, Whitcraft CT et al. (1986) Lenticular opacities in carriers of Lowe's syndrome. Ophthalmology 93: 1041-1045
6. Eckstein M, Vijayalakshmi P, Killedar M et al. (1996) Aetiology of childhood cataract in south India. Br J Ophthalmol 80: 628-632
7. Ehling UH (1991) Genetic risk assessment. Annu Rev Genet 25: 255-280
8. Eiberg H, Lund AM, Warburg M, Rosenberg T (1995) Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 96: 33-38
9. Forshew T, Johnson CA, Khaliq S et al. (2005) Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Hum Genet 117: 452-459
10. Foster A, Gilbert CE, Rahi JS (1997) Epidemiology of cataract in childhood. J Cataract Refract Surg 23: 601-604
11. Francis PJ, Berry V, Bhattacharya SS, Moore AT (2000) The genetics of childhood cataract. J Med Genet 37: 481-488
12. Gilbert CE (1998) Childhood blindness. In: Johnson GJ, Minassian DC, Weale R (eds) The Epidemiology of Eye Disease. Chapman & Hall Medical, London, England, pp 181-207
13. Graw J, Klopp N, Illig T et al. (2006) Identification of a de novo mutation in CRYAA associated with congenital cataract and macular hypoplasia in man. Graefes Arch Clin Exp Ophthalmol 244: 912-919
14. Hejtmancik JF, Smaoui N (2003) Molecular genetics of cataract. Dev Ophthalmol 37: 67-82
15. Lambert SR, Drack AV (1996) Infantile cataracts. Surv Ophthalmol 40: 427-458
16. Lewis RA (1989) Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.Trans Am Ophthalmol Soc 187: 658-728
17. Pras E, Frydman M, Levy-Nissenbaum E et al. (2000) A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 41: 3511-3515
18. Rahi JS, Dezateux C (2000) Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci 41: 2108-2114
19. Rahi JS, Dezateux C, British Congenital Cataract Interest Group (2001) Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci 42: 1444-1448
20. Reddy MA, Francis PJ, Berry V et al. (2004) Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 49: 300-315
21. Ren Z, Li A, Shastry BS et al. (2000) A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet 106: 531-537
22. Riazuddin SA, Yasmeen A, Zhang Q et al. (2005) A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci 46: 623-626
23. SanGiovanni JP, Chew EY, Reed GF et al. (2002) Infantile cataract in the collaborative perinatal project. Prevalence and risk factors. Arch Ophthalmol 120: 1559-1565
24. Shiels A, Hejtmancik JF (2007) Genetic origins of cataract. Arch Ophthalmol 125: 165-173
25. Scott MH, Hejtmancik JF, Wozencraft LA et al. (1994) Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology 10: 866-871
26. Stewart-Brown SL, Haslum MN (1988) Partial sight and blindness in children of the 1970 birth cohort at 10 years of age. J Epidemiol Community Health 42: 17-23
27. Wirth MG, Russell-Eggitt IM, Craig JE et al. (2002) Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol 86: 782-786