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Benchmarking Cone Dystrophy

Benchmarking Cone Dystrophy

What does analysis of the last five years of the cone dystrophy literature tell us about the priorities of the field and the major contributors to it?

By Mark Hillen

Cone dystrophies are a clinically diverse group of genetic disorders that result in retinal degeneration, and can be inherited or acquired due to sporadic mutations. Common symptoms are progressive loss of central vision, abnormal color vision, nystagmus and photophobia. The loss of cone cells may be progressive or stationary, and onset can range from childhood to patients in their fifties.


Treatment options are limited to preventive therapies and disease management; however, several promising pharmacological and gene therapies are currently under development.

To provide insight into the past and predictions for the future of the field, a series of metrics were applied to the last five years of published literature. We asked:

  • What are the major topics for the field?
  • Which publications have the greatest impact?
  • How is the knowledge available online?
  • Who are the most prolific authors?

PubMed was searched for “cone dystrophy”, with results limited to the last five years in humans (for a clinical focus). The data were analyzed in Microsoft Excel 2013.

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About the Author
Mark Hillen

I spent seven years as a medical writer, writing primary and review manuscripts, congress presentations and marketing materials for numerous – and mostly German – pharmaceutical companies. Prior to my adventures in medical communications, I was a Wellcome Trust PhD student at the University of Edinburgh.

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