Congenital cataract: General review;Cataracte congénitale

Journal Francais d'Ophtalmologie

Volumn 29, Issue 4, 2006, Pages 443-455

  Roche, O ^a   Beby, F ^b   Orssaud, C ^a   Dupont Monod, S ^a   Dufier, J L ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

Congenital cataract; Dominant autosomal; Dysgenesis; Lens

Indexed keywords

AMBLYOPIA; AUTOSOMAL DOMINANT INHERITANCE; BONE DISEASE; CHROMOSOME DISORDER; CONGENITAL CATARACT; EMBRYO DEVELOPMENT; EYE MALFORMATION; EYE SURGERY; GENE MUTATION; GENERAL ANESTHESIA; GENETIC PREDISPOSITION; HUMAN; LENS IMPLANT; METABOLIC DISORDER; NEUROLOGIC DISEASE; PATHOGENESIS; PATHOPHYSIOLOGY; REVIEW; SKIN DISEASE;

EID: 33745181973     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0181-5512(06)77710-5     Document Type: Review

References (99)

1. e ed., 2002;27:458.
2. Mondino GJ, Cohn HC. Corectopia with nystagmus, absent foveal reflexes and corneal changes. Acta Ophthalmol, 1981;59:85.
3. Beebe DC, Coats JM. The lens organizes the anterior segment: specification of neural crest cell differentiation in the avian eye. Dev Biol, 2000;220:424-31.
4. Thut CJ, Rountree RB, Hwa M, Kingsley DM. A large-scale in situ screen provides molecular evidence for the induction of eye anterior segment structures by the developing lens. Dev Biol, 2001;231:63-76.
5. Dufier JL. Comment comprendre un glaucome par goniodysgéné sie. Le glaucome congénital, Ed Maury SA. 1988;1:1-8.
6. Goddé-Jolly D, Dufier JL. Ophtalmologie pédiatrique. Ed. Masson 1992, 6.
7. Hockwin and Ohrloff, in Bloemendal: Molecular and Cellular Biology of the Eye Lens, New York, Willey, 1982; p. 379.
8. Weale R. Presbyopia toward the end of the 20th century. Surv Ophthalmol, 1989;34:15-30.
9. Glasser A, Kaufman PL. The mechanism of accommodation in primates. Ophthalmology, 1999;106:863-72.
10. Baikoff G, Lutun E, Wei J, Ferraz C. Étude in vivo de l'accommodation naturelle humaine en OCT chez un albinos de 19 ans. J Fr Ophtalmol, 2005;28: 514-9.
11. Baikoff G, Lutun E, Ferraz C, Wei J. Analyse du segment antérieur de l'œil en tomographie à cohérence optique. Étude statique et dynamique. J Fr Ophtalmol, 2005;28:343-52.
12. Von Helmholtz H. Über die Akkomodation des Auges. Von Graefes für Ophtalmol, 1855,1:1-89.
13. Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI. Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology, 1994;101:66-71.
14. Percin E, Ploder LA, Yu JJ, Arici K, Horsfond DJ, Rutherford A et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet, 2000;25:397-401.
15. Jamieson R, Perveen R, Kerr B, Carette M, Yardiey J, Heon E 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;11:33-42.
16. Berry V, Francis P, Kaushal S, Moore A, Bhattacharya SS. Missense mutations in MIP underlie autosomal dominant "polymorphic" and lamellar cataracte linked to 12q. Nature Genet, 2000;25:15-7.
17. Jakobs PM, Hess JF, Fitzgerald PG, Kramer P, Veleber RG, Litt M. Autosomal dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet, 2000;66:1432-6.
18. Beaumont C, Leneuve P, Devaux L, Scoazec JY, Berthier M, Loiseau MN et al. Mutation in the iron responsive element of the L ferritin MRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet, 1995;11:444-6.
19. Francis PJ, Berry V, Bhattacharya SS, Moore AT. The genetics of childhood cataract. J Med Genet, 2000;37:481-8.
20. Foster A, Gilbert C. Cataract in children. Acta Paediatr, 2003;92:1376-8.
21. Wiesel TN, Hubel DH. Comparison of the effects of unilateral and bilateral eye closure on cortical unit responses in kittens. J Neurophysiol, 1965;28:1029-40.
22. Donate D, Kodjikian L, Beby F, Burillon C, Denis P. Ultrabiomicroscopie et masses du segment antérieur. J Fr Ophtalmol, 2004;27:430-1.
23. Smith WQ, Abu-Harb M. Undiagnosed cardiomyopathy in a neonate: significiance of low oxygen saturation during anaesthesia. Br J Anaesthesia, 2001;86:435-7.
24. Dietlein TS, Jacobi PC, Krieglstein GK. Assement of diagnostic criteria in management of infantile glaucoma. An analysis of tonometry, optic disc cup, corneal diameter and axial length. Int Ophthalmol, 1996;20:21-7.
25. Russell-Eggitt I, Childhood glaucoma. In: Taylor. Paediatric Ophthalmology. 2nd ed. Blackwell Science Ltd, 1997;40:477-97.
26. de Luca Dear G, Hammerton M, Hatch DJ, Taylor D. Anaesthesia and intraocular pressure in young children. A study of three different technics of anaesthesia. Anaesthesia, 1987;42:259-65.
27. Rahi JS, Dezateux C. Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci, 2000;41: 2108-14.
28. Francois J. Heredity in ophthalmology. St. Louis: Mosby, 1961;12:409-35.
29. Roche O, Dureau P, Uteza Y, Dufier JL. La mégalocornée congénitale: revue générale. J Fr Ophtalmol, 2002;25:312-8.
30. Dufier JL, Kaplan J. Œil et génétique. Société Française d'Ophtalmologie. Paris: Ed. Masson, 2005;11:165.
31. Maumenee AE. Further observations on the pathogensis of congenital glaucoma, Am J Ophthalmol, 1963;55:1163.
32. Roussat B, Barbat V, Cantaloube C, Baz P, Iba-Zizen MT, Hamard H. Persistance et hyperplasie du vitré primitif : aspects cliniques et thérapeutiques. J Fr Ophtalmol, 1998;21:501-7.
33. Shiono T, Tsunoda M, Chida Y, Nakazawa M, Tamai M. X linked ocular albinism in Japanese patients. Br J Ophthalmol, 1995; 79:139-43.
34. Dube P, Der Kaloustian VM, Demczuk S, Saabti H, Koenekoop RK. A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. Ophthalmic genet, 2000;21:211-6.
35. Cotlier E, Rice P. Cataracts in the Smith-Lemli-Opitz syndrome. Am J Ophthalmol, 1971;72:955-9.
36. Hittner HM, Kretzer FL, Mehta RS. Zellweger syndrome: lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes. Arch Ophthalm, 1981;99:1977-82.
37. Brei TJ, Burke MJ, Rubinstein JH. Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. J Pediatr Ophthalmol Strabismus, 1995;32:248-52.
38. Ayme S, Preus M. The Marshall and Stickler syndromes objective rejection of lumping. J Med Genet, 1984;21:34-8.
39. Lipson AH, Cowell C, Gorlin RJ. The SHORT syndrome: further delineation and natural history. J Med Genet, 1989;26:473-5.
40. Blodi FC. Developmental anomalies of the skull affecting the eye. Arch Ophthalmol, 1957;57:593.
41. Franceschetti A. Craniofacial dysostoses. In: Transactions of the New Orleans Academy of Ohthalmology. Symposium on surgical and medical management of congenital anomalies of the eye. St. Louis: C.V. Mosby; 1968,118.
42. Calamandrei D. Megalocornea in due pazienti con syndrome craniosinostocia. Q Ital Ofthalmol, 1950;3:278.
43. Miller MT. Ocular abnormalities in craniofacial malformations. Int Ophthalmol Clin, 1984;24:143.
44. Van der Meulen J, Mazzola R, Stricker M, Rapheal B: Classification of craniofacial malformations. In Stricker M, van der Meulen J, Rapheal B, Mazzola R (eds): Craniofacial Malformations. New York: Churchill Livingstone, 1989;149-309.
45. Curtis CJR, Magenis E, Brown M. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X-chromosome. N Engl J Med, 1984;311:1010-5.
46. Romke C, Froster-Iskenius U, Heyne K et al. Roberts syndrome and SC phocomelia. A single genetic entity. Clin Genet, 1987;321:170-7.
47. Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, et al. The Cockayne syndrome group. A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell. 1995;82:555-64.
48. Curtis AR, Lindsay S, Boye E, Clarke AJ, Landy SJ, Bhattacharya SS. A study of X chromosome activity in two incontinentia pigmenti families with probable linkage to Xq28. Eur J Hum Genet, 1994;2:51-8.
49. Yeh H, Price RL, Lonsdale D. Cerebral gigantism (Sotos syndrome) and cataracts. J Pediatr Ophthalmol Strab, 1978;15:231-2.
50. Koenekoop RK, Rosenbaum KN, Traboulsi EI. Ocular findings in a family with Sotos syndrome (cerebral gigantism). Am J Ophthalmol, 1995;119:657-8.
51. Newell FW, Koistinen A. Lipochondrodystrophy (gargoylism): pathologic findings in five eyes of three patients. Arch Ophthalmol, 1955;53:45.
52. Kenyon KR, Quigley HA, Hussels IE et al. The systemic mucopolysaccharidoses: ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol, 1972;73:811.
53. Libert J, Vanhoof F, Farreaux JP et al. Ocular findings in I cell disease (mucolipidosis type II). Am J Ophthalmol, 1977;83:617.
54. Gitzlemann R. Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet, 1965;2:670-1.
55. Arbisser AI, Murphree AL, Garcia CA, Howell RR. Ocular findings in mannosidosis. Am J Ophthalmol, 1976;82:465-71.
56. Moro F, Gorgone G, Li Tolti S, Cavallaro N, Faro S, Curreri R et al. Glucose-6 phosphate dehydrogenase deficiency and incidence of cataract in Sicily. Ophthalmic Paediatr Genet, 1985;5:197-200.
57. Orzalesi N, Sorcinelh R, Guiso G. Increased incidence of cataract in male subjects deficient in glucose-6-phosphate dehydrogenase. Arch Ophthalmol, 1981;99:69-70.
58. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry's disease. Arch Ophthalmol, 1979;97:671-6.
59. Gass IDI. The syndrome of keratoconjunctivitis, superficiel moniliasis, idiopathic hypoparathyroidism and Addison's disease. Am J Ophthalmol, 1962;54:660.
60. Claridge KG, Gibberd FB, Sidey MC. Refsum disease. The presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. Eye, 1992;6:371-5.
61. 1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestation combined with hyperammonemia and reduced ornithine, citrulline, arginine and proline. Eur J Pediatr, 2005;164:31-6.
62. Dufier JL, Dhermy P, Farriaux JP, Amedee-Manesme P, Broyer M, François P. Antenatal diagnosis of Lowe's syndrome based on histologic tests of the fetal eyes. J Fr Ophtalmol, 1986;9:361-6.
63. Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD et al. Deletions of both alpha 5 (IV) and alpha 6 (IV) collagen genes in Alport svndrome and in Alport syndrome associated with smooth muscle tumours. Hum Mol Genet, 1995;4:99-108.
64. Sengers RCA, Stadhouders AM, Van Lakwijk-Vondrovicova E, Kubat K, Ruitenbeek W. Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract. Br Heart J, 1985;54:543-7.
65. Lejeune J, Lafourcade J, Scharer K, de Wolff, Salmon C, Haines M et al. Heterokaryotic monozygotism, normal twin and 21 trisomal twin. C R Hebd Seances Acad Sci, 1962 Jun 25;254:4404-6.
66. Rogers GL, Polomeno RC. Autosomal-dominant inheritance of megalocornea associated with Down's syndrome. Am J Ophthalmol, 1974;78:526.
67. Tominaga N, Kondoh T, Kamimura N, Matsumoto T, Matsuzaka T, Oshima K et al. Anterior segment malformation. In Genetic diseases of the eye. Oxford ed. Oxford : University Press.1998;4:82.
68. Kamoun P, Lafourcade G, Jerome H. Catabolism of serotonin in Down's syndrome (trisomy 21). Biomedicine, 1974;10;21:426-8.
69. Parks MM. Visual results in aphakic children. Am J Ophthalmol, 1982;94:441.
70. Foster A, Gilbert C, Rahi J. Epidemiology of cataract in childhood: a global perspective [review]. J Cataract Refract Surg, 1997;23(Suppl 1):601-4.
71. Lambert SR, Drack AV. Infantile cataract. Surv Ophthalmol, 1996;40:427-58.
72. Awner S, Buckley EG, DeVaro JM, Seaber JH. Unilateral pseudophakia in children under 4 years. J Pediatr Ophthalmol Strabismus, 1996;33:230-6.
73. Sinskey RM, Stoppel JO, Amin P. Long-term results of intraocular lens implantation in pediatric patients. J Cataract Refract Surg, 1993;19:405-8.
74. Vasavada A, Chauhan H. Intraocular lens implantation in infants with congenital cataracts. J Cataract Refract Surg, 1994;20:592-8.
75. Amadieh H, Javadi MA, Ahmady M, et al. Primary capsulectomy, anterior vitrectomy, lensectomy, and posterior chamber lens implantation in children: limbal versus pars plana. J Cataract Refract Surg, 1999;25:768-75.
76. Toyofuku H, Hirose T, Schepens CL. Retinal detachment following congenital cataract surgery. I. Preoperative findings in 114 eyes. Arch Ophthalmol, 1980;98:669-75.
77. Chrousos GA, Parks MM, O'Neill JF. Incidence of chronic glaucoma, retinal detachment and secondary membrane surgery in pediatric aphakic patients. Ophthalmology, 1984;91:1238-41.
78. Asrani S, Freedman S, Hasselblad V, Buckley EG, Egbert J, Dahan E et al. Does primary intraocular lens implantation prevent "aphakic" glaucoma in children? J AAPOS, 2000;4:33-9.
79. Russell-Eggitt I, Zamiri P. Review of aphakic glaucoma after surgery for congenital cataract. J Cataract Refract Surg, 1997; 23(Suppl 1):664-8.
80. Lambert SR, Drack AV. Infantile cataracte. Surv Ophthalmol, 1996;40:427-58.
81. Wilson ME, Bluestein EC, Wang XH. Current trends in the use of intraocular lenses in children. J Cataract Refract Surg, 1994;20:579-83.
82. BenEzra D. Cataract surgery and intraocular lens implantation in children [letter]. Am J Ophthalmol, 1996;121:224-6.
83. Mann I. The development of the human eye. Ed. 2 New-York, Grube & Stratton inc. 120, 1950.
84. Inagaki Y. The rapid change of corneal curvature in the neonatal period and infancy. Arch Ophthalmol, 1986;104:1026-7.
85. Flitcroft DI, Knight-Nanan D, Bowell R, Lanigan B, O'Keefe M. Intraocular lenses in children: changes in axial length, corneal curvature, and refraction. Br J Ophthalmol, 1999;83:265-79.
86. Dahan E, Drusedau MU. Choice of lens and dioptric power in pediatric pseudophakia. J Cataract Refract Surg, 1997;23(suppl 1):618-23.
87. Mc Clatchey SK. Intraocular lens calculator for childhood cataract. J Cataract Refract Surg, 1998;24:1125-9.
88. Hoffer KJ. The Hoffer Q formula: a comparison of theoretic and regression formulas. J Cataract Refract Surg, 1993;19:700-12.
89. Brady KM, Atkinson CSD, Kilty LA, Hiles DA. Cataract surgery and intraocular lens implantation in children. Am J Ophthalmol, 1995;120:1-9.
90. BenEzra D, Paez JH. Congenital cataract and intraocular lenses. Am J Ophthalmol, 1983;96:311-4.
91. Gimbel HV, Ferensowicz M, Raanan M, DeLuca M. Implantation in children. J Pediatr Ophthalmol Strabismus, 1993;30:69-79.
92. Zetterström C. Intraocular lens implantation in the pediatric eye. J Cataract Refract Surg, 1997;23(Suppl 1):599-600.
93. Steinert RF, Aker BL, Trentacost DJ, et al. A prospective comparative study of the AMO ARRAY zonal-progressive multifocal silicone intraocular lens and a monofocal intraocular lens. Ophthalmology, 1999;106:1243-55.
94. Jacobi PC, Dietlein TS, Konen W. Multifocal Intraocular Lens Implantation in Pediatric Cataract Surgery. Ophthalmology, 2001;108:1375-80.
95. Hayashi K, Hayashi H, Nakao F, Hayashi F. Comparison of decentration and tilt between one piece and three piece polymethyl methacrylate intraocular lenses. Br J Ophthalmol, 1998;82:419-22.
96. Tappin MJ, Larkin DF. Factors leading to lens implant decentration and exchange. Eye. 2000;14:773-6.
97. Brady KM, Atkinson CS, Kilty LA, Hiles DA. Glaucoma after cataract extraction and posterior chamber lens implantation in children. J Cataract Refract Surg, 1997;23(Suppl 1):669-74.
98. Fulcher T, Chan J, Lanigan B, Bowell R, O'Keefe M. Long-term follow up of primary trabeculectomy for infantile glaucoma. Br J Ophthalmol, 1996;80:495-6.
99. Mathis A, Pagot-Mathis V, Dumas S, Roque I. Complications rétiniennes de la chirurgie de la cataracte. J Fr Ophtalmol, 2000;88-95.