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Cone Dystrophy/Cone-Rod Dystrophy

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Inherited Retinal Disease
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Abstract

Cone dystrophy is a rare genetic retinal disorder characterized by primary cone degeneration and secondary rod involvement, with a variable fundus appearance. The loss of cones leads to predominant symptoms such as decreased visual acuity, color vision defects and day blindness. Cone dystrophies are genetically heterogeneous and can be inherited by autosomal recessive, autosomal dominant or X-linked recessive patterns.

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References

  1. Hamel CP, et al. Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes. J Fr Ophtalmol. 2000;23(10):985–95.

    CAS  PubMed  Google Scholar 

  2. Vincent A, et al. Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related “cone dystrophy with supernormal rod electroretinogram”. Invest Ophthalmol Vis Sci. 2013;54(1):898–908.

    Article  Google Scholar 

  3. Gundogan FC, Tas A, Sobaci G. Electroretinogram in hereditary retinal disorders. Electroretinograms. 2011;95–132.

    Google Scholar 

  4. Galli-Resta L, et al. Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. Invest Ophthalmol Vis Sci. 2013;54(10):6560–9.

    Article  Google Scholar 

  5. Xiao X, et al. A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. Mol Vis. 2011;17:3271–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Thiadens AA, et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009;85(2):240–7.

    Article  CAS  Google Scholar 

  7. Chowers I, et al. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol. 1999;83(2):190–3.

    Article  CAS  Google Scholar 

  8. Kelsell RE, et al. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet. 1998;7(7):1179–84.

    Article  CAS  Google Scholar 

  9. Kominami A, et al. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet. 2018;39(2):255–62.

    Article  CAS  Google Scholar 

  10. Keller LC, et al. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. Mol Biol Cell. 2009;20(4):1150–66.

    Article  CAS  Google Scholar 

  11. Krill AE, Deutman AF. Dominant macular degenerations. The cone dystrophies. Am J Ophthalmol. 1972;73(3):352–69.

    Article  CAS  Google Scholar 

  12. Jalkanen R, et al. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet. 2006;43(8):699–704.

    Article  CAS  Google Scholar 

  13. Wissinger B, et al. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics. 1998;51(3):325–31.

    Article  CAS  Google Scholar 

  14. Kohl S, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998;19(3):257–9.

    Article  CAS  Google Scholar 

  15. Kohl S, et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000;9(14):2107–16.

    Article  CAS  Google Scholar 

  16. Aligianis IA, et al. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet. 2002;39(9):656–60.

    Article  CAS  Google Scholar 

  17. Kohl S, et al. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002;71(2):422–5.

    Article  CAS  Google Scholar 

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Park, J.H. (2022). Cone Dystrophy/Cone-Rod Dystrophy. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_10

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  • DOI: https://doi.org/10.1007/978-981-16-7337-5_10

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-16-7336-8

  • Online ISBN: 978-981-16-7337-5

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