Study of vitreoretinal dystrophies in a Mexican population

Luis Porfirio Orozco-Gómez; Carmen Guadalupe Castellanos-Pérez Bolde; Silvia Moguel-Ancheita; Andrés Lambarri-Arroyo

2008, Number 1

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Cir Cir 2008; 76 (1)

Study of vitreoretinal dystrophies in a Mexican population

Orozco-Gómez LP, Castellanos-Pérez BCG, Moguel-Ancheita S, Lambarri-Arroyo A

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Language: Spanish
References: 45
Page: 13-21
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ABSTRACT

Background: We undertook this study to demonstrate the incidence of vitreoretinal dystrophies in a Mexican population.
Methods: This was a retrospective, observational, descriptive and transversal study. We analyzed the files of patients treated at the Retina Department in a medical center for state employees (ISSSTE) from January 1991 to December 2006 to obtain the incidence of vitreoretinal dystrophies.
Results: We studied 36,300 patient files. We found an incidence of 0.008 % for familial exudative vitreoretinal dystrophy, 0.008 % for X-linked juvenile retinoschisis, 0.005 % for Wagner disease and 0.005 % for Goldmann-Favre disease. We present here a representative case of each type of dystrophy.
Conclusions: Vitreoretinal dystrophies are uncommon diseases and are difficult to diagnose. Even though they have a low incidence, the poor evolution to blindness requires identification of early signs in order to offer timely and opportune treatment.

REFERENCES

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.