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Gene Review

CACD  -  central areolar choroidal dystrophy

Homo sapiens

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Disease relevance of CACD


High impact information on CACD


Biological context of CACD


Anatomical context of CACD


Other interactions of CACD


Analytical, diagnostic and therapeutic context of CACD


  1. Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. Lotery, A.J., Ennis, K.T., Silvestri, G., Nicholl, S., McGibbon, D., Collins, A.D., Hughes, A.E. Hum. Mol. Genet. (1996) [Pubmed]
  2. Detection of occult sentinel lymph node micrometastases by immunohistochemistry in breast cancer. An NSABP protocol B-32 quality assurance study. Weaver, D.L., Krag, D.N., Manna, E.A., Ashikaga, T., Waters, B.L., Harlow, S.P., Bauer, K.D., Julian, T.B. Cancer (2006) [Pubmed]
  3. Central areolar choroidal dystrophy and slowly progressive sensorineural hearing loss. Hoyng, C.B., van Rijn, P.M., Deutman, A.F. Acta ophthalmologica Scandinavica. (1996) [Pubmed]
  4. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Kelsell, R.E., Evans, K., Gregory, C.Y., Moore, A.T., Bird, A.C., Hunt, D.M. Hum. Mol. Genet. (1997) [Pubmed]
  5. Discrimination among potential activators of the beta-globin CACCC element by correlation of binding and transcriptional properties. Hartzog, G.A., Myers, R.M. Mol. Cell. Biol. (1993) [Pubmed]
  6. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Felbor, U., Doepner, D., Schneider, U., Zrenner, E., Weber, B.H. Invest. Ophthalmol. Vis. Sci. (1997) [Pubmed]
  7. The retina: genetic studies of several retinopathies located on the short arm of chromosome 17. Joshi, A.R., Mullen, L., Small, K.W. Curr. Opin. Neurol. (1997) [Pubmed]
  8. Central areolar choroidal dystrophy associated with dominantly inherited drusen. Klevering, B.J., van Driel, M., van Hogerwou, A.J., van De Pol, D.J., Deutman, A.F., Pinckers, A.J., Cremers, F.P., Hoyng, C.B. The British journal of ophthalmology. (2002) [Pubmed]
  9. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. Hoyng, C.B., Heutink, P., Testers, L., Pinckers, A., Deutman, A.F., Oostra, B.A. Am. J. Ophthalmol. (1996) [Pubmed]
  10. Early findings in central areolar choroidal dystrophy. Hoyng, C.B., Pinckers, A.J., Deutman, A.F. Acta ophthalmologica. (1990) [Pubmed]
  11. Electrophysiology findings in a large family with central areolar choroidal dystrophy. Lotery, A.J., Silvestri, G., Collins, A.D. Documenta ophthalmologica. Advances in ophthalmology. (1998) [Pubmed]
  12. Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome. Ponjavic, V., Andreasson, S., Tranebjaerg, L., Lubs, H.A. Acta ophthalmologica Scandinavica. (1996) [Pubmed]
  13. The development of central areolar choroidal dystrophy. Hoyng, C.B., Deutman, A.F. Graefes Arch. Clin. Exp. Ophthalmol. (1996) [Pubmed]
  14. Geographic atrophy of the retinal pigment epithelium: diagnosis and vision rehabilitation. Potter, J.W., Thallemer, J.M. Journal of the American Optometric Association. (1981) [Pubmed]
  15. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Yanagihashi, S., Nakazawa, M., Kurotaki, J., Sato, M., Miyagawa, Y., Ohguro, H. Arch. Ophthalmol. (2003) [Pubmed]
  16. Abnormal cone synapses in human cone-rod dystrophy. Gregory-Evans, K., Fariss, R.N., Possin, D.E., Gregory-Evans, C.Y., Milam, A.H. Ophthalmology (1998) [Pubmed]
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