Orozco-Gómez LP, Castellanos-Pérez BCG, Hernández-Salazar L

Idioma: Español
Referencias bibliográficas: 36
Paginas: -82
Archivo PDF: 227.93 Kb.

RESUMEN

Las distrofias en patrón son patologías de la retina genéticamente determinadas que se caracterizan por anormalidades en el epitelio pigmentario que se visualizan en el fondo de ojo conformando diversos patrones de puntos o líneas. Realizamos una revisión detallada de las diversas variedades de presentación y sus características más importantes, e incluimos una secuencia fotográfica de las más representativas.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Daniele S, Carbonara A, Daniele C, Restagno G, Orcidi F. Pattern dystrophies of the retinal pigment epithelium. Acta Ophthalmol Scand 1996;74:51-55.

2. 2.Marmor MF, Byers B. Pattern dystrophy of the pigment epithelium. Am J Ophthalmol 1977;84:32-44.

3. 3.Fu AD, Ai E, McDonald R, Johnson RN, Jumper JM. Degeneration and atrophy of the choroid. In: Taesman W, Jaeger EA, eds. The Pattern Dystrophies. Clinical Ophthalmology. Philadelphia: Lippincot Raven; 2006. pp. 88-91.

4. 4.Marmor MF, McNamara JA. Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula. Am J Ophthalmol 1996;122:382-392.

5. Swann PG, Collin HB, Livanes A. Pattern dystrophies of the retinal pigment epithelium. Clin Exp Optom 2000;83:274–278.

6. 6.Travis GH, Sutcliffe G, Bok D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 1991;6:61.

7. 7.Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993;3:213.

8. Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res 2008;27:213-235.

9. Hollander AI, van Lith-Verhoeven JJC, Kersten FFJ, Heister JGAM, Kovel CG, Deutman AD, et al. Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2 J Med Genet 2004;41:699-702.

10. 10.Youssri A, Miller JW. Best’s macular dystrophy. Int Ophthalmol Clin 2001;41:165-171.

11. Spaide RF, Noble K, Morgan A, Bailey K. Vitelliform macular dystrophy Ophthalmology 2006;113:1392-1400.

12. Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, et al. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet 2007;44:e70.

13. 13.Vaclavik V, Ooi KG, Bird AC, Robson AG, Holder GE, Webster AR. Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy. Arch Ophthalmol 2007;125:274-277.

14. Benhamou N, Souied EH, Zolf R, Coscas F, Coscas G, Soubrane G. Adultonset foveomacular vitelliform dystrophy: a study by optical coherence tomography. Am J Ophthalmol 2003;135:362-367.

15. 15.Do P, Ferrucci S. Adult-onset foveomacular vitelliform dystrophy. Optometry 2006;77:156-166.

16. Khairallah M, Kamoun N, Mikati R, Messaoud R, Chachia N. Late polymorphous aspect of familial reticulated dystrophy of the pigment epithelium J Fr Ophtalmol 1997;20:650-651.

17. Cardillo PF, Zingirian M. Pattern dystrophy of the retinal pigment epithelium with vitelliform macular lesion: evolution in ten years. Int Ophthalmol 1988;11:207-217.

18. Giuffrè G, Lodato G. Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family. Br J Ophthalmol 1986;70:526-532.

19. Lodato G, Giuffré G. Unusual associations of pattern dystrophies J Fr Ophtalmol 1985;8:147-154.

20. Girard P, Setbon G, Forest A, Coscas G. Macroreticular and butterfly shaped dystrophies of the retinal pigment epithelium. J Fr Ophtalmol 1980;3:101-108.

21. Harrison TJ, Boles RG, Johnson DR, LeBlond C, Wong LJ. Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. Am J Ophthalmol 1997;124:217-221.

22. McGimpsey SJ, Rankin SJ. Case of Sjögren reticular dystrophy. Arch Ophthalmol 2007;125:850.

23. Rinaldi M, Villani A, Borrelli M, Russo S, Cotticelli L. Sjögren reticular dystrophy of the retinal pigment epithelium: a case report. Eur J Ophthalmol 2003;13:491-495.

24. Agarwal A, Patel P, Adkins T, Gass JD. Spectrum of pattern dystrophy in pseudoxanthoma elasticum. Arch Ophthalmol 2005;123:923-928.

25. Giusti C. Maculopathy in Curschmann-Steinert myotonic dystrophy. Recent Prog Med 2003;94:16-18.

26. Cruvinel DL, Vieira R, Ávila M. Distrofia em forma de borboleta: relato de caso. Arq Bras Oftalmol 2007;70:129-132.

27. Simonelli F, Testa F, Marini V, Interlandi E, Rossi S, Pognuz DR, et al. Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene. Ophthalmic Res 2007;39:255-259.

28. De Franceschi P, Costagliola C, Soreca E, Di Meo A, Giacoia A, Romano A. Pattern dystrophy of the retinal pigment epithelium in Crohn’s disease. A case report. Ophthalmologica 2000;214:441-446.

29. Burton BJL, Holder GE, Duguid G, Gregory-Evans K. Optical coherence tomography findings in benign concentric annular dystrophy. Eye 2005;19:699-701.

30. Salinas A, Sadaba E, Corcostegui C, García LA. Distrofia macular anular benigna. Arch Soc Esp Oftalmol 2005;80:45-48.

31. Pérez M, Fernández C. Distrofia macular anular benigna concéntrica: dos casos. Arch Soc Esp Oftalmol 2003;78:451-454.

32. Chew E, Deutman AF. Pigment dispersion syndrome and pigmented pattern dystrophy of retinal pigment epithelium. Br J Ophthalmol 1983;67:538-541.

33. Marano F, Deutman AF, Leys AL, Aandekerk A. Hereditary retinal dystrophies and choroidal neovascularization. Graefe’s Arch Clin Exp Ophthalmol 2000;238:760–764.

34. Battaglia PM, Da Pozzo S, Ravalico G. Photodynamic therapy for choroidal neovascularization associated with pattern dystrophy. Retina 2003;23:171- 176.

35. Parodi MB, Liberali T, Pedio M, Francis PJ, Piccolino FC, Fiotti N, et al. Photodynamic therapy of subfoveal choroidal neovascularization secondary to reticular pattern dystrophy: three-year results of an uncontrolled, prospective case series. Am J Ophthalmol 2006;141:1152-1154.

36. Marano F, Deutman AF, Aandekerk AL. Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization. Graefes Arch Clin Exp Ophthalmol 1996;234:270-274.