2008, Número 1
Estudio de las distrofias vitreorretinianas en población mexicana
Orozco-Gómez LP, Castellanos-Pérez BCG, Moguel-Ancheita S, Lambarri-Arroyo A
Idioma: Español
Referencias bibliográficas: 45
Paginas: 13-21
Archivo PDF: 192.91 Kb.
RESUMEN
Objetivo: Determinar la incidencia de las variedades de las distrofias vitreorretinianas en población mexicana ya que no existen reportes de la misma en la literatura.
Material y métodos: estudio retrospectivo, observacional, descriptivo y transversal con revisión de expedientes de pacientes con enfermedades retinianas de 1991 al 2006, para determinar la incidencia de distrofias vitreorretinianas.
Resultados: Fueron analizados 36,300 expedientes del Servicio de Retina revisados de enero de 1991 a diciembre de 2006 en el Centro Médico Nacional 20 de Noviembre, hospital de tercer nivel de referencia nacional de los pacientes derechohabientes del ISSSTE, en quienes se encontró una incidencia de 0.008 % para distrofia exudativa familiar, 0.008 % para retinosquisis juvenil ligada al cromosoma X, 0.005 % para la enfermedad de Wagner y 0.005 % para la enfermedad de Goldmann Favré. Presentamos casos representativos de los mismos.
Conclusiones: Las distrofias vitreorretinianas son enfermedades raras, de difícil diagnóstico, pero aunque su incidencia es baja, la tórpida evolución hacia la ceguera obliga a identificar los signos precoces para un tratamiento más oportuno.
REFERENCIAS (EN ESTE ARTÍCULO)
1. Sebag J. Vitreous Pathobiology. In: Tasman W, Jaeger E, eds. Duane’s Clinical Ophthalmology, Philadelphia: Lippincott-Raven;2005. pp. 1-18.
2. Klosowska-Zawadka A, Bernardczyk-Meller J, Gotz-Wieckowska A, Krawczynski M. Importance of family examination in juvenile X-linked retinoschisis. Ophthalmologe 2005;102:1193-1199.
3. Pérez-Alvarez MJ, Clement-Fernandez F. No X-chromosome linked juvenile foveal retinoschisis. Arch Soc Esp Oftalmol 2002;77:443-448.
4. Huopaniemi L. Molecular genetics of x-chromosomal juvenile retinoschisis. Academic dissertation Helsinki 2000, Saarijärvi 2000, 18 (http://ethesis.helsinki.fi)
5. Deutman AF. Vitreoretinal dystrophies. In: Krill A, Archer DB, eds. Hereditary Retinal and Choroidal Diseases. New York: Harper & Row;1977. pp. 1043-1108.
6. George ND, Yates JR, Moore AT. X-linked retinoschisis. Br J Ophthalmol 1995;79:697-702.
7. George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 1996,114:274.
8. Kellner U, Brummer S, Foerster MH, Wessing A. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1990;228:432-437.
9. Manschot WA. Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol 1972;88:131.
10. Regillo CD, Tasman WS, Brown GC. Surgical management of complications associated with X-linked retinoschisis. Arch Ophthalmol 1993;111:1080.
11. Kirsch LS, Brownstein S, de Wolff-Rouendaal D. A histopathological, ultrastructural, and immunohistochemical study of congenital hereditary retinoschisis. Can J Ophthalmol 1996;31:301-310.
12. Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, et al. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein and is expressed and released by Weri-Rb 1 cells. Hum Mol Genet 2000;9:1873-1879.
13. Zueva M, Tsapenko IV, Zakharova GI. Electroretinography in the diagnosis and study of pathogenesis of X-linkage retinoschizis. Vestn Ross Akad Med Nauk 2003;5:47-52.
14. Alsheikheh A, Lieb W, Grehn F. Criswick-Schepens syndrome-familial exudative vitreoretinopathy. Report of six cases in two consanguineous families. Ophthalmologe. 2004;101:914-918.
15. Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, et al. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2004;45:2083-2090.
16. Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol 2003,87:1291-1295.
17. Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet 2004;75:878-884.
18. Plager DA, Orgel IK, Ellis FD, Hartzer M, Trese MT, Shastry BS. X-linked recessive exudative vitreoretinopathy. Am J Ophthalmol 1992,114:145.
19. Li Y, Muller B, Fuhrmann C, van Nouhuys CE, Laqua H, Humphries P, et al. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 1992;51:749.
20. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum Mutat 2005;26:104-112.
Brockhurst RJ, Albert DM, Zakov N. Pathologic findings in familial exudative vitreoretinopathy. Arch Ophthalmol 1981;99:2143.
22. Canny CL, Oliver GL. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol 1976;94:1114.
23. Miyakubo H, Inohara N, Hashimoto K. Retinal involvement in familial exudative vitreoretinopathy. Ophthalmologica 1982;185:125.
24. van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol 1991;111:34.
Shubert A, Tasman W. Familial exudative vitreoretinopathy: surgical intervention and visual acuity outcomes. Graefes Arch Clin Exp Ophthalmol 1997;235:490-493.
26. Nasr YG, Cherfan GM, Michels RG, Wilkinson CP. Goldmann-Favre maculopathy. Retina 1990;10:178-180.
27. Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, et al. An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol 2005;89:1065-1066.
28. Batioðlu F. Goldmann-Favre vitreoretinal degeneration. Eur J Ophthalmol 2003;13:307-310.
29. Ikäheimo K, Tuppurainen K, Mantyjarvi M. Clinical features of Goldmann-Favre syndrome. Acta Ophthalmol Scand 1999;77:459-461.
30. Carr RE, Siegel IM. The vitreo-tapeto-retinal degenerations. Arch Ophthal 1970;84:436-445.
31. Jacobson SG, Roman AJ, Roman MI, Gass JD, Parker JA. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol 1991;111:446.
32. Theodossiadis PG, Koutsandrea C, Kollia AC, Theodossiadis GP. Optical coherence tomography in the study of the Goldmann-Favre syndrome. Am J Ophthalmol 2000;129:542-544.
33. Godel V, Nemet P, Lazar M. The Wagner Stickler syndrome complex. Doc Ophthalmol 1981;52:179.
34. Brown DM, Graemiger RA, Hergersberg M, Schinzel A, Messmer EP, Niemeyer G, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Ophthalmology 1995;113:671-675.
35. Maumenee IH, Stoll HU, Mets MR. The Wagner syndrome versus hereditary arthroophthalmopathy. Trans Am Ophthal Soc 1982;80:349.
36. Wilson MC, McDonald-McGinn DM, Quinn GE, Markowitz GD, LaRossa D, Pacuraru AD, et al. Long-term follow-up of ocular findings in children with Stickler’s syndrome. Am J Ophthalmol 1996;122:727.
37. Parke DW. Stickler Syndrome. Am J Ophthalmol 2002;134:746-748.
38. Graemiger RA, Niemeyer G, Schneeberger SA, Messmer EP. Wagner vitreoretinal degeneration: follow-up of the original pedigree. Ophthalmology 1995;102:1830-1839.
Snead MP, Yates RW. Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999;36:353-359.
40. Klingenberg C, Fossen K, Tranebjaerg L. Stickler’s syndrome – an underdiagnosed condition? Tidsskr Nor Laegeforen 2001;121:3172-3175.
41. Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, et al. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol 2003;48:191-203.
42. Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet 1994;3:1561.
Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet 1996;5:1339-1343.
44. Ziakas NG, Ramsay AS, Lynch SA, Clarke MP. Stickler’s syndrome associated with congenital glaucoma. Ophthalmic Genet 1998;19:55-58.
45. Monin C, Allagui M, Larricart P, Ameline B, Haut J. Prevention of non-traumatic retinal detachment by surgical cerclage. Apropos of 20 cases. J Fr Ophtalmol 1993;16:247.