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Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR)

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Abstract

A heterogenous group of diseases, progressive cone dystrophy usually begins in the mid-teenage years or later in life. The estimated prevalence is 1 in 30,000–40,000 individuals. Patients usually present with decreased central vision and a color vision deficit; the visual loss is progressive and often accompanied by day blindness (hemeralopia) and light intolerance (photophobia). Over time, affected individuals develop night blindness and loss of peripheral field. Visual acuity deteriorates to 20/200 or even counting fingers. There is some association between X-linked cone-rod dystrophy (CORD) and high myopia.

Keywords

X-linked Cone dystrophy Cone-rod dystrophy 

Suggested Reading

  1. 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.CrossRefGoogle Scholar
  2. Rahner N, Nuernberg G, Finis D, Nuernberg P, Royer-Pokora B. A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Ophthalmic Genet. 2016;37:294–300.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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