Ocular pathology in bovine Marfan's syndrome with demonstration of altered fibrillin immunoreactivity in explanted ciliary body cells

Laboratory Investigation

Volumn 75, Issue 1, 1996, Pages 87-95

  Pessier, Allan P ^a   Potter, Kathleen A ^a  

^a WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CATTLE; CILIARY BODY; CLINICAL FEATURE; ECTOPIA LENTIS; EXTRACELLULAR MATRIX; GENE MUTATION; IMMUNOHISTOCHEMISTRY; MARFAN SYNDROME; MYOPIA; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

ANIMALS; CATTLE; CILIARY BODY; DISEASE MODELS, ANIMAL; EXTRACELLULAR MATRIX PROTEINS; EYE; EYE DISEASES; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; IRIS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MICROSCOPY, ELECTRON, SCANNING; REFERENCE VALUES;

EID: 0029895315     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Besser TE, Potter KA, Bryan GM, and Knowlen GA (1990). An animal model of the Marfan syndrome. Am J Med Genet 37:159-165.
2. Burian HM and Allen L (1961). Histologic study of the chamber angle of patients with Marfan's syndrome. Arch Ophthalmol 65:323-333.
3. Cross HE and Jensen AD (1973). Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 75:405-420.
4. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenburger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, and Francomano CA (1991). Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337-339.
5. Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, Francomano CA, and Cutting GR (1992). Marfan phenotype variability in a family segregating a missense mutation on the EGF-like motif of the fibrillin gene. J Clin Invest 89:1674-1680.
6. Dvorak-Theobald G (1941). Histologic eye findings in arachnodactyly. Am J Ophthalmol 24:1132-1137.
7. Farnsworth PN, Burke P, Dotto ME, and Cinotti AA (1977). Ultrastructural abnormalities in a Marfan's syndrome lens. Arch Ophthalmol 95:1601-1606.
8. Gelatt KN (1991). Ophthalmic embryology and anatomy. In: Gelatt K, editor. Veterinary ophthalmology. Philadelphia: Lea and Febiger, 15-87.
9. Godfrey M (1993). The Marfan syndrome. In: Beighton P, editor. Heritable disorders of connective tissue. St. Louis: Mosby, 66-67.
10. Kainulainen K, Karttunen L, Puhakka L, Sakai L, and Peltonen L (1994). Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 6:64-69.
11. Kainulainen K, Sakai LY, Child A, Pope FM, Puakka L, Ryhanen L, Palotie A, Kaitila I, and Peltonen L (1992). Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci USA 89:5917-5921.
12. Karnovsky MJ (1965). A formaldehyde-gluteraldehyde fixative of high osmolality for use in electron microscopy. J Cell Biol 27:137A.
13. Keene DR, Maddox BK, Kuo H, Sakai LY, and Glanville RW (1991). Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix micro-fibrils. J Histochem Cytochem 39:441-449.
14. Malak TM and Bell SC (1994). Distribution of fibrillin-containing microfibrils and elastin in human fetal membranes: A novel basis for membrane elasticity. Am J Obstet Gynecol 171:195-205.
15. Martin CL (1978). Zonular defects in the dog: A clinical and scanning electron microscopic study. J Am Anim Hosp Assoc 14:571-579.
16. Maumenee IH (1981). The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 79:684-732.
17. Milewicz DM, Pyeritz RE, Crawford S, and Byers PH (1992). Marfan syndrome: Defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest 89:79-86.
18. Potter KA and Besser TE (1994). Cardiovascular lesions in bovine Marfan syndrome. Vet Pathol 31:501-509.
19. Potter KA, Hoffman Y, Sakai LY, Byers PH, and Milewicz DM (1993). Defective fibrillin metabolism in bovine Marfan syndrome. Am J Pathol 142:1-8.
20. Pyeritz RE (1986). The Marfan syndrome. Am Fam Physician 34:83-94.
21. Ramsey MS, Fine BS, Shields JA, and Yanoff M (1973). The Marfan syndrome: A histopathologic study of ocular findings. Am J Ophthalmol 76:102-116.
22. Ramsey MS, Yanoff M, and Fine BS (1972). The ocular histopathology of homocystinuria. Am J Ophthalmol 74:377-385.
23. Reeh MJ and Lehman WL (1954). Marfan's syndrome (Arachnodactyly) with ectopia lentis. Trans Am Acad Ophthalmol Otolaryngol 58:212-216.
24. Sakai LY, Keene DR, and Engvall E (1986). Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 103:2499-2509.
25. Streeten BW and Licari PA (1983). The zonules and the elastic microfibrillar system in the ciliary body. Invest Ophthalmol Vis Sci 24:667-681.
26. Wachtel JG (1966). The ocular pathology of Marfan's syndrome. Arch Ophthalmol 76:512-522.
27. Wallace RN, Streeten BW, and Hanna RB (1991). Rotary shadowing of elastic system microfibrils in the ocular zonule, vitreous, and ligamentum nuchae. Curr Eye Res 10:99-109.
28. Wheatley HM, Flowers BE, Maumenee IH, Azar D, Whittum-Hudson J, and Traboulsi EI (1994). Immunohistochemical localization of fibrillin in human ocular tissues. Invest Ophthalmol Vis Sci 35:1446.