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ISSN 1561-3070 (Electronic)

2014, Number 4

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Rev Cub Oftal 2014; 27 (4)

Generational study conducted in families with Fuchs' endotelial corneal dystrophy

López GM, Rodríguez PU, López HSM, García GD, Lapido PS, Baldoquin RW

Language: Spanish
References: 22
Page: 528-539
PDF size: 134.58 Kb.


ABSTRACT

Objective: to identify clinical features of Fuchs' endothelial corneal dystrophy in relatives of patients with this diagnosis.
Methods: bservational, descriptive and transversal study of 15 three- generation families of those patients with Fuchs' endothelial corneal dystrophy who went to the cornea consultation of the "Ramón Pando Ferrer", Cuban Institute of Ophthalmology from 2008 to 2011. The sample was made up of 78 patients. Data collection forms were used to study the following variables of interest: Cornea Guttata by degree, clinical classification, age, sex and degree of relationship as family tree. Qualitative variables were summarized using percentage absolute and relative frequencies.
Results: of the total number of direct descendants, 44,1 % had cornea guttata; 34,6 % of the patients presented with Fuchs' endothelial corneal dystrophy and 23,1 % of them had cornea guttata. Dystrophy and cornea guttata were found more frequently in females, with the highest incidence of the former in patients over 60 years. First degree descendants showed more corneal involvement than the second degree ones (75,9 and 23,5 %, respectively). All the families had offspring affected by the disease.
Conclusions: most of the members of the families suffered corneal endothelial changes, so they should be included in the study for diagnostic and preventive purposes.


REFERENCES

  1. Barraquer RI, De Toledo MC, Torres E. Distrofias y degeneraciones corneales. Atlas y Texto. Barcelona: Expas; 2004. p. 20921.

  2. Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' dystrophy. Am J Ophthalmol. 1990;90:455-62.

  3. Chang SW, Tuli S, Azar D. Corneal Dystrophies. Genetic diseases of the eye: a textbook and atlas. New York: Oxford University; 1998.

  4. Urquhart JE, Biswas S, Black GC, Munier FL, Sutphin J. Exclution of COL8A1, the gen encoding the (VIII)2 chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. Brit J Ophthalmol. 2006;90:1430-31.

  5. Ula VJ, Rawe I, Bitar MS, Cheng Z, Harris DL, Colby K, Joyce NC. Decreased Expression of Peroxiredoxins in Fuchs' Endothelial Dystrophy. Invest Ophthalmol. Vis Sci. 2008;49(7):2956-63.

  6. Biswas S, Munier FL, Yardley J. Missense mutation in COL8A2, the gene encoding the a2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2006;10:2415-23.

  7. Aldave AJ, Rayner Sa, Salem AK. No pathogenic mutations identified in the COL8A2 genes in familial with Fuchs' corneal dystrophy. Invest Ophthalmol Vis Sci. 2006;47(9):3787-90.

  8. Mok JW, Kim HS, Joo CK. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye. 2009;23:895-903.

  9. Okumura N, Koizumi N, Ueno M, et al. Enhancement of corneal endothelium wound healing by Rho-associated kinase (ROCK) inhibitor eye drops. Br J Ophthalmol. 2011;95:1006-9.

  10. Krachmer JH, Purcell JJ, Young CW, Bucher KD. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol. 1978;96:2036-9.

  11. Lorenzetti DWC, Uotila MH, Parikh N, Kaufman HE. Central cornea guttata. Incidente in the general population. Am J Ophathalmol. 1967;64:115558.

  12. Roth SI, Stock EL, Justabha R. Endothelial inclusions in Fuchs' corneal dystrophy. Hum Pathol. 2006;18(4):338-41.

  13. Patel SV, Baratz KH, Hodge DO, et al. The effect of corneal light scatter on vision after Descemet stripping with endothelial keratoplasty. Arch Ophthalmol. 2009;127:153-60.

  14. Veitía RZ, Bauza FY, Hernández SR, Ramos LM, Curbelo CL, López HI. Estudio comparativo de la pérdida celular endotelial entre las técnicas de facoemulsificación por ultrachop y prechop. Rev Cub Oftalmol. 2010 [citado 20 de agosto de 2014];23(Supl.2). Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864- 21762010000400007&lng=es&nrm=iso&tlng=es

  15. Hecker AL, McLaren JW, Bachman LA, Sanjay V, Patel BA. Anterior Keratocyte Depletion in Fuchs' Endothelial Dystrophy. Arch Ophthalmol. 2011;129(5):555-61.

  16. Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs` endothelial dystrophy. Arch Ophthalmol. 1991;85:268-72.

  17. Zoega GM, Fujisawa A, Sasaki H, et al. Prevalence and risk factors for cornea guttata in the Reykjavik Eye Study. Ophthalmology. 2006;113:565-9.

  18. Moshirfar M, Feiz V, Feilmeier MR, Kang PC. Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy. J Cataract Refract Surg. 2005;31(12):2281-6.

  19. Bolaños G. Distrofia endotelial de Fuchs. OSL, St. Luc¡a: Oftalmol. 2009;8(3):85-94.

  20. Bergmanson JP, Sheldon TM, Goosey JD. Fuchs' endothelial dystrophy: a fresh look at an aging disease. Ophthalmic Physiol Opt. 1999;19:210-22.

  21. Gottsch JD, Eghrari OA. Fuchs' corneal dystrophy. Cataract, Cornea and External Disease Service. Wilmer Eye Institute. Expert Rev Ophthalmol. 2010;5(2):147-59.

  22. Sundin OH, Jun AS, Broman KW, Liu SH, Sheehan SE, Vito EC, et al. Linkage of lateonset Fuchs corneal dystrophy to a novel locus at 13 ptel13 q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-5.




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