Skip to main content
PMC home page
The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
. 1978 Apr;62(4):261–264. doi: 10.1136/bjo.62.4.261

Familial bilateral macular colobomata.

S A Miller, G Bresnick
PMCID: PMC1043199  PMID: 646986

Abstract

A mother and daugher had a life-long history of poor vision and photophobia, bilateral macular colobomata, and retinal pigment epithelial abnormalities; psychoelectrophysiological testing indicated extensive loss of cone or cone-rod function. These cases suggest this is a genetically determined condition unrelated to infection.

Full text

PDF
262

Images in this article

261Image
on p.261
261Image
on p.261
262Image
on p.262
262Image
on p.262

Selected References

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

  1. Clarke E. COLOBOMA AT THE MACULA (BOTH EYES). Br J Ophthalmol. 1927 Mar;11(3):97–99. doi: 10.1136/bjo.11.3.97. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Evans P. J. FAMILIAL MACULAR COLOBOMATA. Br J Ophthalmol. 1937 Sep;21(9):503–506. doi: 10.1136/bjo.21.9.503. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Frank H. R., Landers M. B., 3rd, Williams R. J., Sidbury J. B. A new dominant progressive foveal dystrophy. Am J Ophthalmol. 1974 Dec;78(6):903–916. doi: 10.1016/0002-9394(74)90800-9. [DOI] [PubMed] [Google Scholar]
  4. Freedman J., Gombos G. M. Bilateral macular coloboma, keratoconus, and retinitis pigmentosa. Ann Ophthalmol. 1971 Jun;3(6):664–p. [PubMed] [Google Scholar]
  5. GOODMAN G., RIPPS H., SIEGEL I. M. CONE DYSFUNCTION SYNDROMES. Arch Ophthalmol. 1963 Aug;70:214–231. doi: 10.1001/archopht.1963.00960050216013. [DOI] [PubMed] [Google Scholar]
  6. Krill A. E., Archer D. Classification of the choroidal atrophies. Am J Ophthalmol. 1971 Sep;72(3):562–585. doi: 10.1016/0002-9394(71)90854-3. [DOI] [PubMed] [Google Scholar]
  7. Leighton D. A., Harris R. Retinal aplasia in association with macular coloboma, keratoconus and cataract. Clin Genet. 1973;4(3):270–274. doi: 10.1111/j.1399-0004.1973.tb01154.x. [DOI] [PubMed] [Google Scholar]
  8. Margolis S., Scher B. M., Carr R. E. Macular colobomas in Leber's congenital amaurosis. Am J Ophthalmol. 1977 Jan;83(1):27–31. doi: 10.1016/0002-9394(77)90187-8. [DOI] [PubMed] [Google Scholar]
  9. Phillips C. I., Griffiths D. L. Macular coloboma and skeletal abnormality. Br J Ophthalmol. 1969 May;53(5):346–349. doi: 10.1136/bjo.53.5.346. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Sorsby A. CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET. Br J Ophthalmol. 1935 Feb;19(2):65–90. doi: 10.1136/bjo.19.2.65. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from The British Journal of Ophthalmology are provided here courtesy of BMJ Publishing Group

RESOURCES