2009, Number 4
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Rev Mex Oftalmol 2009; 83 (4)
Alteraciones oculares en síndrome de Marfan: Revisión de 130 casos
Figueroa-Magaña BB, Salcedo-Villanueva G, Villanueva-Mendoza MC
Language: Spanish
References: 26
Page: 201-205
PDF size: 93.92 Kb.
ABSTRACT
Objective: To determine the most common ocular alterations in patients with Marfan’s syndrome.
Methods: Observational, retrospective and longitudinal study. One hundred and thirty files of patients with Marfan’s syndrome were reviewed. The characteristics of the anterior and posterior segment, keratometries and antero-posterior axis by ultrasound were determined.
Results: Ectopia lentis was found in 87.7% of the patients, retinal degeneration was found in 21.4% and rhegmatogenous retinal detachment in 22.4%. Other important findings were flat corneas and an increase in the length of the anteroposterior axis.
Conclusions: Ectopia lentis constitutes major criteria for the diagnosis of Marfan’s syndrome. However, the ophthalmologist must know other ocular alterations also present in the disease for an accurate diagnosis as for the prevention of complications.
REFERENCES
Villanueva-Mendoza C, Joffe-B S, Niño de Rivera-O MO, Arenas-Sordo ML, Cervantes-Paredo A, Lopez-Lopez M. Genética y Oftalmología. México D.F. Publicaciones educativas en oftalmología de la Sociedad Mexicana de Oftalmología. 2000.
Fuchs J. Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey. Acta Paediatr 1997; 86:947-952.
Gray JR, Bridges AB, Faed MJ y cols. Ascertainment and severity of Marfan syndrome in a Scotish population. J Med Genet 1994; 31:51-54.
Marfan AB. Un cas de déformation congénitale des quatre membres plus prononcée aux extremités caracterisée par l’allongement des os avec un certain degre d’amincissement. Bull Mem Soc Med Hop Paris1896; 13:220-226.
Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol 2006; 51:561-575.
Sakai LY, Keene DR, Engvall E y cols. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986; 103:2499-2509.
Hollister DW, Godfrey M, Sakai LY y cols. Inmunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 1990; 323:152-159.
Weyman AE, Scherrer-Crosbie M. Marfan syndrome and the mitral valve prolapse. J Clin Invest 2004; 114:1543-1546.
Dietz HC, Pyeritz RE, Hall BD y cols. The Marfan syndrome locus: confirmation of assignment to chromosome 15q15-q21.3 Genomics 1991; 9:355-361.
Tsipouras P, Del Mastro R, Sarfarazi M y cols. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrilin genes on chromosome 15 and 5. The international Marfan syndrome collaborative study. N Eng J Med 1992; 326:905-909.
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62:417-426.
Izquierdo NJ, Traboulsi EI, Enger C y cols. Glaucoma in the Marfan síndrome. Trans Am Ophthalmol Soc 1992; 90:111-117, discussion 118-122.
Grant WM, Walton DS. Progressive changes in the angle in congenital aniridia, with development of glaucoma. Am J Ophthalmol 1974; 78:842-847.
Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 1981; 79: 684-733.
Cross HE, Jensen AD. Ocular manifestation in the Marfan syndrome and homocystinuria. Am J Ophthalmol 1973; 75:405-420.
Dvork-Theobald G. Hystologic eye findings in arachnodactyly. Am J Ophthalmol 1941; 24:1132-1137.
Wachtel JG. The ocular pathology of Marfan’s syndrome, including clinicopathological correlation and an explanation of ectopia lentis. Arch Ophthalmol 1966; 76:512-522.
Bunton TE, Biery NJ, Myers L y cols. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res 2001; 88:37-43.
Pyeritz RE. The Marfan Syndrome. Annu Rev Med 2000; 51:481-510.
Allen RA, Straatsma BR, Apt L y cols. Ocular Manifestations of the Marfan syndrome. Trans Am Acad Ophthalmol Otolaryngol 1967; 71:18-38.
Remulla JF, Tolentino FI. Retinal detachment in Marfan’s syndrome. Int Ophthalmol Clin 2001; 41:235-240.
Abboud EB. Retinal detachment surgery in Marfan’s syndrome. Retina 1998; 18:405-409.
Dotreva D. Bilateral retinal detachment in Marfan’s syndrome. Eur J Ophthalmol 1998; 8:102-105.
Dotreva D, Karel I, Clupkova E. Retinal detachment in Marfan’s syndrome. Characteristics and surgical results. Retina 1997; 17:390-396.
Patricia CW, Christopher JD, Hoskins HD. The developmental glaucomas. En: Tasman W, Jaeger EA (eds). Duane’s Clinical Ophthalmology, vol 3. Philadelphia, JB Lippincott, 2001. Chap 51.
Izquierdo NJ, Traboulsi EI, Enger C y cvols. Strabismus in the Marfan syndrome. Am J Ophthalmol 1994; 117:632-635.