Skip to main content
NCBI home page
Transactions of the American Ophthalmological Society logoLink to Transactions of the American Ophthalmological Society
. 1990;88:123–135.

Colobomatous malformations of the eye.

I H Maumenee 1, T N Mitchell 1
PMCID: PMC1298581  PMID: 2095017

Full text

PDF
123

Images in this article

129FIGURE 2 A
on p.129
129FIGURE 2 B
on p.129
130FIGURE 2 C
on p.130
130FIGURE 2 D
on p.130
131FIGURE 2 E
on p.131

Selected References

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

  1. Apple D. J., Rabb M. F., Walsh P. M. Congenital anomalies of the optic disc. Surv Ophthalmol. 1982 Jul-Aug;27(1):3–41. doi: 10.1016/0039-6257(82)90111-4. [DOI] [PubMed] [Google Scholar]
  2. Bateman J. B., Maumenee I. H. Colobomatous macrophthalmia with microcornea. Ophthalmic Paediatr Genet. 1984 Aug;4(2):59–66. doi: 10.3109/13816818409007839. [DOI] [PubMed] [Google Scholar]
  3. Brown G. C., Augsburger J. J. Congenital pits of the optic nerve head and retinochoroidal colobomas. Can J Ophthalmol. 1980 Jul;15(3):144–146. [PubMed] [Google Scholar]
  4. Brown G. C. Optic nerve hypoplasia and colobomatous defects. J Pediatr Ophthalmol Strabismus. 1982 Mar-Apr;19(2):90–93. doi: 10.3928/0191-3913-19820301-06. [DOI] [PubMed] [Google Scholar]
  5. Causes of severe visual impairment in children and their prevention. Doc Ophthalmol. 1975 Dec 30;39(2):213–341. [PubMed] [Google Scholar]
  6. Duvall J., Miller S. L., Cheatle E., Tso M. O. Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies. Am J Ophthalmol. 1987 May 15;103(5):701–705. doi: 10.1016/s0002-9394(14)74333-8. [DOI] [PubMed] [Google Scholar]
  7. Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin. 1968 Winter;8(4):797–816. [PubMed] [Google Scholar]
  8. François J. Hérédité des affections colobomateuses du globe oculaire. Ann Ocul (Paris) 1966 Jun;199(6):545–573. [PubMed] [Google Scholar]
  9. Gardner T. W., Zaparackas Z. G., Naidich T. P. Congenital optic nerve colobomas: CT demonstration. J Comput Assist Tomogr. 1984 Feb;8(1):95–102. doi: 10.1097/00004728-198402000-00018. [DOI] [PubMed] [Google Scholar]
  10. Goravalingappa J. P., Nashi H. K. Congenital malformations in a study of 2398 consecutive births. Indian J Med Res. 1979 Jan;69:140–146. [PubMed] [Google Scholar]
  11. Hussels I. E. Midface syndrome with iridochoroidal coloboma and deafness in a mother: microphthalmia in her son. Birth Defects Orig Artic Ser. 1971 Jun;7(7):269–269. [PubMed] [Google Scholar]
  12. Kremer I., Cohen S., Izhak R. B., Ben-Sira I. An unusual case of congenital unilateral Coats's disease associated with morning glory optic disc anomaly. Br J Ophthalmol. 1985 Jan;69(1):32–37. doi: 10.1136/bjo.69.1.32. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Lin C. C., Tso M. O., Vygantas C. M. Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. Arch Ophthalmol. 1984 Nov;102(11):1651–1654. doi: 10.1001/archopht.1984.01040031341023. [DOI] [PubMed] [Google Scholar]
  14. Lindstedt E. Congenital malformations of the eye. Report on 218 cases of grave reduction of vision caused by bilateral malformation of the ocular bulb. Acta Ophthalmol (Copenh) 1968;46(3):355–360. [PubMed] [Google Scholar]
  15. Mafee M. F., Jampol L. M., Langer B. G., Tso M. Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst. Radiol Clin North Am. 1987 Jul;25(4):693–699. [PubMed] [Google Scholar]
  16. Opitz J. M., Gilbert E. F. CNS anomalies and the midline as a "developmental field". Am J Med Genet. 1982 Aug;12(4):443–455. doi: 10.1002/ajmg.1320120408. [DOI] [PubMed] [Google Scholar]
  17. Opitz J. M. The developmental field concept. Am J Med Genet. 1985 May;21(1):1–11. doi: 10.1002/ajmg.1320210102. [DOI] [PubMed] [Google Scholar]
  18. Orcutt J. C., Bunt A. H. Anomalous optic discs in a patient with a Dandy-Walker cyst. J Clin Neuroophthalmol. 1982 Mar;2(1):43–47. [PubMed] [Google Scholar]
  19. Pagon R. A. Ocular coloboma. Surv Ophthalmol. 1981 Jan-Feb;25(4):223–236. doi: 10.1016/0039-6257(81)90092-8. [DOI] [PubMed] [Google Scholar]
  20. Pisteljić D. T., Vranjesević D., Apostolski S., Pisteljić D. D. Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc). J Med Genet. 1986 Aug;23(4):364–366. doi: 10.1136/jmg.23.4.364. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Ribeiro-da-Silva J., Castanheira-Dinis A., Agoas V., Godinho-de-Matos J. Congenital optic disc deformities. A clinical approach. Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):67–70. doi: 10.3109/13816818509007857. [DOI] [PubMed] [Google Scholar]
  22. Rosenberg L. F., Burde R. M. Progressive visual loss caused by an arachnoidal brain cyst in a patient with an optic nerve coloboma. Am J Ophthalmol. 1988 Sep 15;106(3):322–325. doi: 10.1016/0002-9394(88)90368-6. [DOI] [PubMed] [Google Scholar]
  23. Savell J., Cook J. R. Optic nerve colobomas of autosomal-dominant heredity. Arch Ophthalmol. 1976 Mar;94(3):395–400. doi: 10.1001/archopht.1976.03910030183002. [DOI] [PubMed] [Google Scholar]
  24. Taylor D. S. The genetic implications of optic disc anomalies. Trans Ophthalmol Soc U K. 1985;104(Pt 8):853–856. [PubMed] [Google Scholar]
  25. Traboulsi E. I., Lenz W., Gonzales-Ramos M., Siegel J., Macrae W. G., Maumenee I. H. The Lenz microphthalmia syndrome. Am J Ophthalmol. 1988 Jan 15;105(1):40–45. doi: 10.1016/0002-9394(88)90119-5. [DOI] [PubMed] [Google Scholar]
  26. Warburg M., Friedrich U. Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field. Ophthalmic Paediatr Genet. 1987 Jun;8(2):105–118. doi: 10.3109/13816818709028526. [DOI] [PubMed] [Google Scholar]
  27. Warburg M. Genetics of microphthalmos. Int Ophthalmol. 1981 Aug;4(1-2):45–65. doi: 10.1007/BF00139580. [DOI] [PubMed] [Google Scholar]
  28. Weaver R. G., Cashwell L. F., Lorentz W., Whiteman D., Geisinger K. R., Ball M. Optic nerve coloboma associated with renal disease. Am J Med Genet. 1988 Mar;29(3):597–605. doi: 10.1002/ajmg.1320290318. [DOI] [PubMed] [Google Scholar]
  29. van Dalen J. T., Delleman J. W., Yogiantoro M. A discussion of 61 cases of optic nerve coloboma. Doc Ophthalmol. 1983 Dec 15;56(1-2):177–181. doi: 10.1007/BF00154727. [DOI] [PubMed] [Google Scholar]

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

RESOURCES