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Cone and Cone–Rod Dystrophies

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Inherited Chorioretinal Dystrophies

Abstract

The cone and cone–rod dystrophies are a heterogeneous group of disorders, both in terms of clinical features and underlying genetic basis, that are a major cause of childhood blindness and arguably the most devastating of inherited retinal conditions due to the loss of central vision at an early stage. They are characterised by reduced central vision, colour vision abnormalities, visual field loss and a variable degree of nystagmus and photophobia. There is absent or severely impaired cone function on electroretinography (ERG) and psychophysical testing. Patients with cone–rod dystrophy (CORD) develop additional rod system abnormalities that lead to night blindness and peripheral visual field loss later in the disease process.

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References

  1. Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004;88:291–7.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  2. Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol. 2006;51:232–58.

    Article  PubMed  Google Scholar 

  3. Downes SM, Holder GE, Fitzke FW, et al. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Arch Ophthalmol. 2001;119:96–105.

    CAS  PubMed  Google Scholar 

  4. Michaelides M, Wilkie SE, Jenkins S, et al. Mutation in the gene GUCA1A, encoding guanylate cyclase activating protein-1 (GCAP1) causes cone, cone-rod and macular dystrophy. Ophthalmology. 2005;112:1442–7.

    Article  PubMed  Google Scholar 

  5. Michaelides M, Holder GE, Hunt DM, et al. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Br J Ophthalmol. 2005;89:198–206.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  6. Hood DC, Cideciyan AV, Halevy DA, Jacobson SG. Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogram b-waves. Vision Res. 1996;36:889–901.

    Article  CAS  PubMed  Google Scholar 

  7. Michaelides M, Holder GE, Webster AR, et al. A detailed phenotypic study of "cone dystrophy with supernormal rod ERG". Br J Ophthalmol. 2005;89:332–9.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  8. Ebenezer ND, Michaelides M, Jenkins SA, et al. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci. 2005;46:1891–8.

    Article  PubMed  Google Scholar 

  9. Moore AT. Cone and cone-rod dystrophies. J Med Genet. 1992;29:289–90.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  10. Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology. 2005;112:1592–8.

    Article  PubMed  Google Scholar 

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Correspondence to Michel Michaelides BSc, MBBS, MD, FRCOphth FACS .

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© 2014 Springer-Verlag Berlin Heidelberg

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Michaelides, M. (2014). Cone and Cone–Rod Dystrophies. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_13

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  • DOI: https://doi.org/10.1007/978-3-540-69466-3_13

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  • Publisher Name: Springer, Berlin, Heidelberg

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  • Online ISBN: 978-3-540-69466-3

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