Skip to main content
PMC home page
Transactions of the American Ophthalmological Society logoLink to Transactions of the American Ophthalmological Society
. 1981;79:684–733.

The eye in the Marfan syndrome.

I H Maumenee
PMCID: PMC1312201  PMID: 7043871

Abstract

One hundred sixty consecutive patients with the Marfan syndrome were reviewed for ocular, cardiovascular, and skeletal abnormalities, and were graded by severity. The most striking ocular abnormality was enlargement of the globe, presumably caused by scleral stretching. Staphylomata were not a feature of any of the patients seen, nor was keratoconus. The cornea, in fact, was flattened but not thinned. Among the 160 patients, 193 eyes showed dislocation of the lens. Dislocation of the lens was positively correlated with increased ocular axial length and with decreasing KJ readings. We postulate that the ocular pathologic changes are primarily caused by stretching of the tunica scleralis, and that the zonular fibers (thus under stress may "give" or may rupture in their area of presumably least density which may be the area of developmental fusion of the optic vesicle. In a small proportion of cases the lens dislocation was progressive. There was no correlation between ocular findings, on one hand, and the skeletal and cardiovascular abnormalities on the other. However, there was a good degree of intrafamilial consistency with regard to absence or presence of ocular pathology. The absence of correlation between the ocular and systemic findings in our data on these 160 patients is best explained by the existence of more than 1 point mutation, which may give rise to different but clinically similar phenotypes. The results of our calculations of mutation rate were compatible with such an explanation.

Full text

PDF
684

Images in this article

694FIGURE 1 A
on p.694
694FIGURE 1 B
on p.694
694FIGURE 1 C
on p.694
695FIGURE 2
on p.695
707FIGURE 4
on p.707
708FIGURE 5
on p.708
709FIGURE 6
on p.709
711FIGURE 7
on p.711
713FIGURE 9
on p.713
714FIGURE 10
on p.714
722FIGURE 12
on p.722
726FIGURE 13 A
on p.726
726FIGURE 13 B
on p.726
726FIGURE 13 C
on p.726
726FIGURE 13 D
on p.726

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AUSTIN M. G., SCHAEFER R. F. Marfan's syndrome, with unusual blood vessel manifestations. AMA Arch Pathol. 1957 Aug;64(2):205–209. [PubMed] [Google Scholar]
  2. Allen R. A., Straatsma B. R., Apt L., Hall M. O. Ocular manifestations of the Marfan syndrome. Trans Am Acad Ophthalmol Otolaryngol. 1967 Jan-Feb;71(1):18–38. [PubMed] [Google Scholar]
  3. BURIAN H. M. A case of Marfan's syndrome with bilateral glaucoma. With description of a new type of operation for developmental glaucoma (trabeculotomy ab externo). Am J Ophthalmol. 1960 Dec;50:1187–1192. [PubMed] [Google Scholar]
  4. BURIAN H. M., ALLEN L. Histologic study of the chamber angel of patients with Marfan's syndrome. A discussion of the cases of Theobald, Reeh and Lehman, and Sadi de Buen and Velazquez. Arch Ophthalmol. 1961 Mar;65:323–333. doi: 10.1001/archopht.1961.01840020325003. [DOI] [PubMed] [Google Scholar]
  5. BURIAN H. M. Chamber angle studies in developmental glaucoma: Marfan's syndrome and high myopia. Mo Med. 1958 Oct;55(10):1088–1090. [PubMed] [Google Scholar]
  6. BURIAN H. M., VON NOORDEN G. K., PONSETI I. V. Chamber angle anomalies in systemic connective tissue disorders. Arch Ophthalmol. 1960 Nov;64:671–680. doi: 10.1001/archopht.1960.01840010673008. [DOI] [PubMed] [Google Scholar]
  7. Bromley W. C. Ectopia lentis with Marfan's syndrome -- case with a useful optical correction. J Pediatr Ophthalmol. 1976 Jul-Aug;13(4):230–231. [PubMed] [Google Scholar]
  8. CHANDLER P. A. CHOICE OF TREATMENT IN DISLOCATION OF THE LENS. Arch Ophthalmol. 1964 Jun;71:765–786. doi: 10.1001/archopht.1964.00970010781002. [DOI] [PubMed] [Google Scholar]
  9. Cross H. E., Jensen A. D. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol. 1973 Mar;75(3):405–420. doi: 10.1016/0002-9394(73)91149-5. [DOI] [PubMed] [Google Scholar]
  10. FISCHL A. A., RUTHBERG J. Clinical implications of Marfan's syndrome. J Am Med Assoc. 1951 Jun 23;146(8):704–707. doi: 10.1001/jama.1951.03670080012003. [DOI] [PubMed] [Google Scholar]
  11. Farnsworth P. N., Burke P. A., Blanco J., Maltzman B. Ultrastructural abnormalities in a microspherical ectopic lens. Exp Eye Res. 1978 Oct;27(4):399–408. doi: 10.1016/0014-4835(78)90018-0. [DOI] [PubMed] [Google Scholar]
  12. Farnsworth P. N., Burke P., Dotto M. E., Cinotti A. A. Ultrastructural abnormalities in a Marfan's syndrome lens. Arch Ophthalmol. 1977 Sep;95(9):1601–1606. doi: 10.1001/archopht.1977.04450090123010. [DOI] [PubMed] [Google Scholar]
  13. Hindle N. W., Crawford J. S. Dislocation of the lens in Marfan's syndrome. Its effect and treatment. Can J Ophthalmol. 1969 Apr;4(2):128–135. [PubMed] [Google Scholar]
  14. Jarrett WH I. I. Dislocation of the lens. A study of 166 hospitalized cases. Arch Ophthalmol. 1967 Sep;78(3):289–296. doi: 10.1001/archopht.1967.00980030291006. [DOI] [PubMed] [Google Scholar]
  15. LYNAS M. A. Marfan's syndrome in Northern Ireland; an account of thirteen families. Ann Hum Genet. 1958 Jul;22(4):289–309. doi: 10.1111/j.1469-1809.1958.tb01423.x. [DOI] [PubMed] [Google Scholar]
  16. Mash A. J., Hegmann J. P., Spivey B. E. Genetic analysis of indices of corneal power and corneal astigmatism in human populations with varying incidences of strabismus. Invest Ophthalmol. 1975 Nov;14(11):826–832. [PubMed] [Google Scholar]
  17. McKanna J. A., Casagrande V. A. Reduced lens development in lid-suture myopia. Exp Eye Res. 1978 Jun;26(6):715–723. doi: 10.1016/0014-4835(78)90106-9. [DOI] [PubMed] [Google Scholar]
  18. Michael E. B. Studies on the biochemical basis of the Marfan syndrome--a review. Ala J Med Sci. 1976 Jan;13(1):54–58. [PubMed] [Google Scholar]
  19. Murdoch J. L., Walker B. A., Halpern B. L., Kuzma J. W., McKusick V. A. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972 Apr 13;286(15):804–808. doi: 10.1056/NEJM197204132861502. [DOI] [PubMed] [Google Scholar]
  20. Pyeritz R. E., McKusick V. A. The Marfan syndrome: diagnosis and management. N Engl J Med. 1979 Apr 5;300(14):772–777. doi: 10.1056/NEJM197904053001406. [DOI] [PubMed] [Google Scholar]
  21. REEH M. J., LEHMAN W. L. Marfan's syndrome (arachnodactyly) with ectopia lentis. Trans Am Acad Ophthalmol Otolaryngol. 1954 Mar-Apr;58(2):212–216. [PubMed] [Google Scholar]
  22. Ramsey M. S., Fine B. S., Shields J. A., Yanoff M. The Marfan syndrome. A histopathologic study of ocular findings. Am J Ophthalmol. 1973 Jul;76(1):102–116. [PubMed] [Google Scholar]
  23. Ramsey M. S., Yanoff M., Fine B. S. The ocular histopathology of homocystinuria. A light and electron microscopic study. Am J Ophthalmol. 1972 Sep;74(3):377–385. doi: 10.1016/0002-9394(72)90895-1. [DOI] [PubMed] [Google Scholar]
  24. Seetner A. A., Crawford J. S. Surgical correction of lens dislocation in children. Am J Ophthalmol. 1981 Jan;91(1):106–110. doi: 10.1016/0002-9394(81)90354-8. [DOI] [PubMed] [Google Scholar]
  25. Seland J. H. The lenticular attachment of the zonular apparatus in congenital simple ectopia lentis. Acta Ophthalmol (Copenh) 1973;51(4):520–528. doi: 10.1111/j.1755-3768.1973.tb06031.x. [DOI] [PubMed] [Google Scholar]
  26. Takebayashi S., Kubota I., Takagi T. Ultrastructural and histochemical studies of vascular lesions in Marfan's syndrome, with report of 4 autopsy cases. Acta Pathol Jpn. 1973 Nov;23(4):847–866. doi: 10.1111/j.1440-1827.1973.tb02780.x. [DOI] [PubMed] [Google Scholar]
  27. VON NOORDEN G. K., SCHULTZ R. O. A gonioscopic study of the chamber angle in Marfan's syndrome. Arch Ophthalmol. 1960 Dec;64:929–934. doi: 10.1001/archopht.1960.01840010931015. [DOI] [PubMed] [Google Scholar]
  28. Wachtel J. G. The ocular pathology of Marfan's syndrome, including a clinicopathological correlation and an explanation of ectopia lentis. Arch Ophthalmol. 1966 Oct;76(4):512–522. doi: 10.1001/archopht.1966.03850010514009. [DOI] [PubMed] [Google Scholar]
  29. Williams E. Rare Cases, with Practical Remarks. Trans Am Ophthalmol Soc. 1875;2:291–301. [PMC free article] [PubMed] [Google Scholar]

Articles from Transactions of the American Ophthalmological Society are provided here courtesy of American Ophthalmological Society

RESOURCES