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. 1993 Feb;77(2):122–123. doi: 10.1136/bjo.77.2.122

Two cases of coloboma associated with unbalanced translocations.

M Goggin 1, M O'Keefe 1, H Hughes 1
PMCID: PMC504446  PMID: 8435414

Abstract

Two cases of coloboma are recorded, both secondary to previously unreported unbalanced translocations. These cases underline the association of chromosomal abnormalities and coloboma, particularly when accompanied by systemic abnormalities. They also highlight the importance of a full systemic assessment of coloboma patients and adequate genetic counselling for both patients and their families.

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Selected References

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

  1. Francois J. Colobomatous malformations of the ocular globe. Int Ophthalmol Clin. 1968 Winter;8(4):797–816. [PubMed] [Google Scholar]
  2. Goldberg M. F., McKusick V. A. X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome. Am J Ophthalmol. 1971 May;71(5):1128–1133. doi: 10.1016/0002-9394(71)90588-5. [DOI] [PubMed] [Google Scholar]
  3. Gonzalez C. H., Sommer A., Meisner L. F., Elejalde B. R., Opitz J. M. The trisomy 4p syndrome: case report and review. Am J Med Genet. 1977;1(2):137–156. doi: 10.1002/ajmg.1320010202. [DOI] [PubMed] [Google Scholar]
  4. McMillan L. ANOPHTHALMIA AND MALDEVELOPMENT OF THE EYES: FOUR CASES IN THE SAME FAMILY. Br J Ophthalmol. 1921 Mar;5(3):121–122. doi: 10.1136/bjo.5.3.121. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. 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]
  6. Taylor D. S. The genetic implications of optic disc anomalies. Trans Ophthalmol Soc U K. 1985;104(Pt 8):853–856. [PubMed] [Google Scholar]
  7. Warburg M. Diagnostic precision in microphthalmos and coloboma of heterogeneous origin. Birth Defects Orig Artic Ser. 1982;18(6):31–50. [PubMed] [Google Scholar]
  8. Wilson W. G., Campochiaro P. A., Conway B. P., Carter B. T., Sudduth K. W., Watson B. A., Sparkes R. S. Deletion (13)(q14.1q14.3) in two generations: variability of ocular manifestations and definition of the phenotype. Am J Med Genet. 1987 Nov;28(3):675–683. doi: 10.1002/ajmg.1320280315. [DOI] [PubMed] [Google Scholar]

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