Aniridia congénita
Congenital aniridia
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Solano, A., Díaz Granados, J., & Castillo, Ángela. (2011). Aniridia congénita. Revista Repertorio De Medicina Y Cirugía, 20(3), 185–191. https://doi.org/10.31260/RepertMedCir.v20.n3.2011.765
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Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.
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Objetivo: presentar un caso de aniridia congénita bilateral asociada con catarata e hipoplasia foveal y revisar la literatura existente. Métodos: revisión de la literatura y de la historia clínica de un paciente que consultó al Hospital de San José de Bogotá DC. Conclusiones: la aniridia es una alteración panocular, bilateral, muy poco frecuente que afecta la córnea, cámara anterior, iris, cristalino, retina, mácula y nervio óptico. Tiene una incidencia entre 1:64.000 y 1:100.000. Puede encontrarse de manera aislada o en asociación con otros síndromes, incluyendo el tumor de Wilms, anormalidades genitourinarias y retardo mental (síndrome de WARG).
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Referencias
1. Brauner SC, Walton OS, Chen TC. Aniridia. lnt Ophthalmol Clin 2008; 48(2):7985.
2. Ivanov I, Shuper A, Shohat M, Snir M, Weitz R. Aniridia: recent achievements in paediatric practice. Eur J Pediatr 1995; 154(10):795-800.
3. Lee H, Khan R, O'Keefe M. Aniridia: currentpathologyand management. Acta Ophthalmol 2008; 86(7):708-715.
4. Churchill A, Booth A. Genetics of aniridia and anteriorsegment dysgenesis. Br J Ophthalmol !996; 80(7):669-673.
5. Tasman William JE. CongenitaJ malforrnations of the eye. En: Duane's clinicalophthalmology on CD-ROM. 1999. Chapter 40.
6. Davis LK, Meyer KJ, Rudd OS, LibrantAL, Epping EA, SheffieldVC et al. Pax6 3' deletion results in aniridia, autism and mental retardation. Hum Genet 2008; 123(4):371-378.
7. Álvarez J, Gris O, Pérez J, Protocolo deactuación en pacientes con aniridia. Asociación española de aniridia. 2009. p. 1-213.
8. Fischbach BY, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005; 116(4):984-988.
9. The eye M.O Association. Aniridia. En: Pediatric ophthalmology and strabismus. AmericanAcademy of Ophthalmology. 2003-2004.Chapter XX.
10. Asociación Española de Aniridia. Exposición aniridia. Arch. Soc. Esp. Oftalmol. 2009. Disponible en: http://www.aniridia.es.
11. Lopez-Garcia JS, García-Lozano I, Rivas L, Martinez-Garchitorena J. [Congenital aniridia keratopathy treatment]. Arch Soc Esp Oftalmol 2006; 81(8):435-444.
12. Brandt JO, Casuso LA, Budenz DL. Markedly increased central cornea! thickness: an unrecognized finding in congenitaJ aniridia. Am J Ophthalrnol 2004; 137: 348-350.
13. Whitson JT, Liang C, Godfrey DG, et al. Central cornea] thickness in patients with congenital aniridia. Eye Contact Lens 2005; 31: 221-224.
14. Sugar J. Congenital stem cell deficiency. En: Holland EJ,Mannis MJ, eds, Ocular Surface Disease:Medical and Surgical Management. New York, Springer Verlag, 2002; 93-99.
15. Beattie PH:.A consideration of aniridia, with a pedigree. Br J Ophthalmol 1947; 31:649.
16. Moreker M, Parikh R, Parikh SR, Thomas R. Aniridia associated with congenital aphakia and secondary glaucoma. Indian J Ophthalmol 2009; 57(4):313-314.
17. Swanner JC, Walton OS, Chen TC. Prevention of aniridic glaucoma with goniosurgery. Int Ophthalmol Clin 2004; 44(1):67-71.
18. Beauchamp GR. Anterior segment dysgenes keratolenticular adhesion and aniridia. J Pediat Ophthalmol Strabismus 1978; 17:55-8.
19. David R, MacBeath L, Jenkins T. Aniridia associated with rnicrocomea and subluxated lenses. Br J Ophthalmol l 978; 62:118-121.
20. Hou ZQ, Hao YS, Wang W, et al. Clinicalpathological study of the anterior lens capsule abnormalities in farniliaJ congenital aniridia with catarct. Beijing Da Xue Xue Bao 2005;37:494-497;Chinese.
21. Neuhann IM, Neuhann TF. Cataract surgery and aniridia. Curr Opin Ophthalmol 2010; 21(1):60-64.
22. Tsai JH, Freeman JM, Chan C, Schwartz GS, Derby EA, Petersen MR, HollandEJ. Aprogressive anterior fibrus syndrome in patients with postsurgicaJ congenital aniridia. Am J Ophtalmol 2005; 140 (6): 1075-1079.
23. Sundmacher R, Reinhard T, Althaus C. Black diaphragmintraocular lens in congenital aniridia. Ger J Ophtalmol 1994; 3:197-201.
24. Reinhard T, Engelhardt S, Sundrnacher R. Blackdiaphragm aniridiaintraocular lens for congenital aniridia: long-term follow-up. J Cataract Refract Surg 2000; 26(3):375-381.
25. Burk SE, Da Mata AP, Snyder ME, Cionni RJ, Cohen JS, Osher RH. Prosthetic iris implantation for confenital, traumatic, or functional iris deficiencies. J Cataract Refract Surg 2001; 27:1732-1740.
26. Traboulsi EL Optic nerve malformations. En: Huang D, Kaiser PK, Lowder CY, Traboulsi El. Retina! imaging. Philadelphia, Elsevier Mosby, 2006; 591-593.
27. Kline LB. Optic nerve disorders. San Francisco, American Academy of Ophthalmology, 1996.
28. Kanski JJ, Damato B, Tanner V, Milewski SA. Diseases of theocular fundus. Edinburgh, Elsevier Mosby, 2005.
29. Dowler JG, Lyons CJ & Cooling RJ (1995): Retina! detachment and giant retina] tears in aniridia. Eye 9: 268-270.
30. Tagle RC. Congenital, developmentaJ, and degenerative disorders of the iris and ciliary body. En: Albert DM, Jakobiec FA. Principies and practice of ophthalmology: basic sciences. Philadelphia,W.B. Saunders Company, 2000;1151-1175.
31. Okamoto F, Nakano S, Okamoto C, Hommura S, Oshika T. Ultrasound biomicroscopic findings in aniridia. Am J Ophthalmol 2004; 137:858-62.
32. McGuire DE,Weinreb RN, Goldbaum MH.FoveaJ hypoplasia demonstrated in vivo with optical coherence tomography. Am J Ophthalmol 2003; 135 ( ]): 112-4.
2. Ivanov I, Shuper A, Shohat M, Snir M, Weitz R. Aniridia: recent achievements in paediatric practice. Eur J Pediatr 1995; 154(10):795-800.
3. Lee H, Khan R, O'Keefe M. Aniridia: currentpathologyand management. Acta Ophthalmol 2008; 86(7):708-715.
4. Churchill A, Booth A. Genetics of aniridia and anteriorsegment dysgenesis. Br J Ophthalmol !996; 80(7):669-673.
5. Tasman William JE. CongenitaJ malforrnations of the eye. En: Duane's clinicalophthalmology on CD-ROM. 1999. Chapter 40.
6. Davis LK, Meyer KJ, Rudd OS, LibrantAL, Epping EA, SheffieldVC et al. Pax6 3' deletion results in aniridia, autism and mental retardation. Hum Genet 2008; 123(4):371-378.
7. Álvarez J, Gris O, Pérez J, Protocolo deactuación en pacientes con aniridia. Asociación española de aniridia. 2009. p. 1-213.
8. Fischbach BY, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005; 116(4):984-988.
9. The eye M.O Association. Aniridia. En: Pediatric ophthalmology and strabismus. AmericanAcademy of Ophthalmology. 2003-2004.Chapter XX.
10. Asociación Española de Aniridia. Exposición aniridia. Arch. Soc. Esp. Oftalmol. 2009. Disponible en: http://www.aniridia.es.
11. Lopez-Garcia JS, García-Lozano I, Rivas L, Martinez-Garchitorena J. [Congenital aniridia keratopathy treatment]. Arch Soc Esp Oftalmol 2006; 81(8):435-444.
12. Brandt JO, Casuso LA, Budenz DL. Markedly increased central cornea! thickness: an unrecognized finding in congenitaJ aniridia. Am J Ophthalrnol 2004; 137: 348-350.
13. Whitson JT, Liang C, Godfrey DG, et al. Central cornea] thickness in patients with congenital aniridia. Eye Contact Lens 2005; 31: 221-224.
14. Sugar J. Congenital stem cell deficiency. En: Holland EJ,Mannis MJ, eds, Ocular Surface Disease:Medical and Surgical Management. New York, Springer Verlag, 2002; 93-99.
15. Beattie PH:.A consideration of aniridia, with a pedigree. Br J Ophthalmol 1947; 31:649.
16. Moreker M, Parikh R, Parikh SR, Thomas R. Aniridia associated with congenital aphakia and secondary glaucoma. Indian J Ophthalmol 2009; 57(4):313-314.
17. Swanner JC, Walton OS, Chen TC. Prevention of aniridic glaucoma with goniosurgery. Int Ophthalmol Clin 2004; 44(1):67-71.
18. Beauchamp GR. Anterior segment dysgenes keratolenticular adhesion and aniridia. J Pediat Ophthalmol Strabismus 1978; 17:55-8.
19. David R, MacBeath L, Jenkins T. Aniridia associated with rnicrocomea and subluxated lenses. Br J Ophthalmol l 978; 62:118-121.
20. Hou ZQ, Hao YS, Wang W, et al. Clinicalpathological study of the anterior lens capsule abnormalities in farniliaJ congenital aniridia with catarct. Beijing Da Xue Xue Bao 2005;37:494-497;Chinese.
21. Neuhann IM, Neuhann TF. Cataract surgery and aniridia. Curr Opin Ophthalmol 2010; 21(1):60-64.
22. Tsai JH, Freeman JM, Chan C, Schwartz GS, Derby EA, Petersen MR, HollandEJ. Aprogressive anterior fibrus syndrome in patients with postsurgicaJ congenital aniridia. Am J Ophtalmol 2005; 140 (6): 1075-1079.
23. Sundmacher R, Reinhard T, Althaus C. Black diaphragmintraocular lens in congenital aniridia. Ger J Ophtalmol 1994; 3:197-201.
24. Reinhard T, Engelhardt S, Sundrnacher R. Blackdiaphragm aniridiaintraocular lens for congenital aniridia: long-term follow-up. J Cataract Refract Surg 2000; 26(3):375-381.
25. Burk SE, Da Mata AP, Snyder ME, Cionni RJ, Cohen JS, Osher RH. Prosthetic iris implantation for confenital, traumatic, or functional iris deficiencies. J Cataract Refract Surg 2001; 27:1732-1740.
26. Traboulsi EL Optic nerve malformations. En: Huang D, Kaiser PK, Lowder CY, Traboulsi El. Retina! imaging. Philadelphia, Elsevier Mosby, 2006; 591-593.
27. Kline LB. Optic nerve disorders. San Francisco, American Academy of Ophthalmology, 1996.
28. Kanski JJ, Damato B, Tanner V, Milewski SA. Diseases of theocular fundus. Edinburgh, Elsevier Mosby, 2005.
29. Dowler JG, Lyons CJ & Cooling RJ (1995): Retina! detachment and giant retina] tears in aniridia. Eye 9: 268-270.
30. Tagle RC. Congenital, developmentaJ, and degenerative disorders of the iris and ciliary body. En: Albert DM, Jakobiec FA. Principies and practice of ophthalmology: basic sciences. Philadelphia,W.B. Saunders Company, 2000;1151-1175.
31. Okamoto F, Nakano S, Okamoto C, Hommura S, Oshika T. Ultrasound biomicroscopic findings in aniridia. Am J Ophthalmol 2004; 137:858-62.
32. McGuire DE,Weinreb RN, Goldbaum MH.FoveaJ hypoplasia demonstrated in vivo with optical coherence tomography. Am J Ophthalmol 2003; 135 ( ]): 112-4.
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