Abstract
We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal relationship between abnormalities of chromosome 17 and retinal pigment epithelial or photoreceptor dysfunction.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Barker D., Wright E., Nguyen K., Cannon L., Fain P., Goldgar D., Bishop D. T., Carey J., Baty B., Kivlin J. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 1987 May 29;236(4805):1100–1102. doi: 10.1126/science.3107130. [DOI] [PubMed] [Google Scholar]
- Barondes M., Pauleikhoff D., Chisholm I. C., Minassian D., Bird A. C. Bilaterality of drusen. Br J Ophthalmol. 1990 Mar;74(3):180–182. doi: 10.1136/bjo.74.3.180. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bird A. C., Marshall J. Retinal pigment epithelial detachments in the elderly. Trans Ophthalmol Soc U K. 1986;105(Pt 6):674–682. [PubMed] [Google Scholar]
- Duvall-Young J., MacDonald M. K., McKechnie N. M. Fundus changes in (type II) mesangiocapillary glomerulonephritis simulating drusen: a histopathological report. Br J Ophthalmol. 1989 Apr;73(4):297–302. doi: 10.1136/bjo.73.4.297. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Huson S., Jones D., Beck L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol. 1987 Mar;71(3):235–238. doi: 10.1136/bjo.71.3.235. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Riccardi V. M., Sujansky E., Smith A. C., Francke U. Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics. 1978 Apr;61(4):604–610. [PubMed] [Google Scholar]
- Rosenberg T., Schwartz M., Niebuhr E., Yang H. M., Sardemann H., Andersen O., Lundsteen C. Choroideremia in interstitial deletion of the X chromosome. Ophthalmic Paediatr Genet. 1986 Dec;7(3):205–210. doi: 10.3109/13816818609004140. [DOI] [PubMed] [Google Scholar]
- Stratton R. F., Dobyns W. B., Airhart S. D., Ledbetter D. H. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984;67(2):193–200. doi: 10.1007/BF00273000. [DOI] [PubMed] [Google Scholar]
- Yunis J. J., Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child. 1978 Feb;132(2):161–163. doi: 10.1001/archpedi.1978.02120270059012. [DOI] [PubMed] [Google Scholar]